The relationship between genetics and infectious diseases is important in shaping our understanding of disease susceptibility,progression,and treatment.Recent research shows the impact of genetic variations,such as he...The relationship between genetics and infectious diseases is important in shaping our understanding of disease susceptibility,progression,and treatment.Recent research shows the impact of genetic variations,such as heme-oxygenase promoter length,on diseases like malaria and sepsis,revealing both protective and inconclusive effects.Studies on vaccine responses highlight genetic markers like human leukocyte antigens,emphasizing the potential for personalized immunization strategies.The ongoing battle against drug-resistant tuberculosis(TB)illustrates the complexity of genomic variants in predicting resistance,highlighting the need for integrated diagnostic tools.Additionally,genome-wide association studies reveal antibiotic resistance mechanisms in bacterial genomes,while host genetic polymorphisms,such as those in solute carrier family 11 member 1 and vitamin D receptor,demonstrate their role in TB susceptibility.Advanced techniques like metagenomic next-generation sequencing promise detailed pathogen detection but face challenges in cost and accessibility.A case report involving a highly virulent Mycobacterium TB strain with the pks1 gene further highlights the need for genetic insights in understanding disease severity and developing targeted interventions.This evolving landscape emphasizes the role of genetics in infectious diseases,while also addressing the need for standardized studies and accessible technologies.展开更多
BACKGROUND Fluoropyrimidines are metabolized in the liver by the enzyme dihydropyrimidine dehydrogenase(DPD),encoded by the DPYD gene.About 7%of the European population is a carrier of DPYD gene polymorphisms associat...BACKGROUND Fluoropyrimidines are metabolized in the liver by the enzyme dihydropyrimidine dehydrogenase(DPD),encoded by the DPYD gene.About 7%of the European population is a carrier of DPYD gene polymorphisms associated with reduced DPD enzyme activity.AIM To assess the prevalence of DPYD polymorphisms and their impact on fluoropyrimidine tolerability in Italian patients with gastrointestinal malignancies.METHODS A total of 300 consecutive patients with a diagnosis of gastrointestinal malignancy and treated with a fluoropyrimidine-based regimen were included in the analysis and divided into two cohorts:(1)149 patients who started fluoropyrimidines after DPYD testing;and(2)151 patients treated without DPYD testing.Among the patients in cohort A,15%tested only the DPYD2A polymorphism,19%tested four polymorphisms(DPYD2A,HapB3,c.2846A>T,and DPYD13),and 66%tested five polymorphisms including DPYD6.RESULTS Overall,14.8%of patients were found to be carriers of a DPYD variant,the most common being DPYD6(12.1%).Patients in cohort A reported≥G3 toxicities(P=0.00098),particularly fewer nonhematological toxicities(P=0.0028)compared with cohort B,whereas there was no statistically significant difference between the two cohorts in hematological toxicities(P=0.6944).Significantly fewer chemotherapy dose reductions(P=0.00002)were observed in cohort A compared to cohort B,whereas there was no statistically significant differences in chemotherapy delay.CONCLUSION Although this study had a limited sample size,it provides additional information on the prevalence of DPYD polymorphisms in the Italian population and highlights the role of pharmacogenetic testing to prevent severe toxicity.展开更多
BACKGROUND Cleidocranial dysplasia(CCD)is an infrequent clinical condition with an autosomal dominant inheritance pattern.It is characterized by abnormal clavicles,patent sutures and fontanelles,supernumerary teeth,an...BACKGROUND Cleidocranial dysplasia(CCD)is an infrequent clinical condition with an autosomal dominant inheritance pattern.It is characterized by abnormal clavicles,patent sutures and fontanelles,supernumerary teeth,and short stature.Approximately 60%-70%of patients with CCD have mutations in the RUNX family transcription factor 2 gene.However,prenatal diagnosis of CCD is difficult when the family history is unknown.CASE SUMMARY We report a rare case of fetal CCD with an unknown family history,confirmed by prenatal ultrasonography and genetic testing at a gestational age of 16 weeks.The genetic reports indicated that the fetus carried pathogenic mutations in the RUNX family transcription factor 2 gene(c.674G>A).After careful consideration,the pregnant woman and her family decided to continue the pregnancy.CONCLUSION Definitive prenatal diagnosis of CCD should include family history,ultrasound diagnosis,and genetic analysis,especially if family history is unknown.展开更多
Hepatitis B virus remains a major cause of cirrhosis and hepatocellular carcinoma,with genetic polymorphisms and mutations influencing immune responses and disease progression.Nguyen et al present novel findings on sp...Hepatitis B virus remains a major cause of cirrhosis and hepatocellular carcinoma,with genetic polymorphisms and mutations influencing immune responses and disease progression.Nguyen et al present novel findings on specific human leukocyte antigen(HLA)alleles,including rs2856718 of HLA-DQ and rs3077 and rs9277535 of HLA-DP,which may predispose individuals to cirrhosis and liver cancer,based on multi-clustering analysis.Here,we discuss the feasibility of this approach and identify key areas for further investigation,aiming to offer insights for advancing clinical practice and research in liver disease and related cancers.展开更多
Maize is an important source of calories and protein in human lives in many countries of the world and is the main staple food in Africa, particularly in eastern Africa. In the Sudan, the low yield of maize was mainly...Maize is an important source of calories and protein in human lives in many countries of the world and is the main staple food in Africa, particularly in eastern Africa. In the Sudan, the low yield of maize was mainly due to the use of low yielding landraces. It is necessary to carry out breeding programs that deal with the production of high yielding, adaptable new varieties. Therefore, this study aimed to estimate genetic variability, heritability, genotypic performance and interrelationships among the traits. Ten maize genotypes evaluated at White Nile Research Station Farm, Kosti, of the Agricultural Research Corporation (ARC), Wad Medani Sudan were planted in a randomized complete block design with three replications during the two seasons of 2021 and 2022. Most evaluated genotypes exhibited a wide and significant variation in the 11 measured traits. Genotypic coefficient of variation and genetic advance were recorded for days to 50% tasseling, ear diameter (cm), number of grains per row and grain yield (t/ha) in both seasons. High heritability and genetic advance were recorded for grain yield, ear length, ear height, plant height, number of rows per ear, ear weight, days to 50% tasseling, 100-grain weight and days to 50% silking. Moreover, there was a highly significant and positive correlation of grain yield with number of rows per ear (r = 0.479), ear length (r = 0.381), 100-grain weight (r = 0.344) and days to 50% tasseling (r = 0.214). The highest yielding five genotypes across the seasons were TZCOM1/ZDPSYN (4.2 t/ha), EEPVAH-3 (4.2 t/ha), F2TWLY131228 (4.1 t/ha), PVA SYN6F2 (3.9 t/ha) and EEPVAH-9 (3.8 t/ha) these were needed to check the adaptability, stability and to test major maize growing areas to make sound recommendations for release.展开更多
This study evaluated the molecular characterization of different ecotypes of B. aegyptiaca populations in the four sites: Koily alpha, Labgar, Ranérou and Ballou according to the environment with the aim of devel...This study evaluated the molecular characterization of different ecotypes of B. aegyptiaca populations in the four sites: Koily alpha, Labgar, Ranérou and Ballou according to the environment with the aim of developing protection strategies. We sampled leaves of B. aegyptiaca in each individual from each site to extract and amplify a fragment of mitochondrial DNA including cytochrome b and then carefully preserved. DNA extraction, polymerase chain amplification and sequencing of MT-CYB were performed in 64 individuals. Genetic diversity and structure of B. aegyptiaca were determined using the MEGA, DNasp and Arlequin software. The results showed a high haplotype diversity and low nucleotide diversity, indicating a population expansion linked to an important gene flow. Genetic distances between populations were positively correlated with geographic distance. The importance of having highlighted this genetic differentiation of the B. aegyptiaca species between these sites is to be able to understand the degree of genetic heterogeneity of each and correlate it with adaptability because genetic diversity influences the adaptation of the species.展开更多
Introduction: Influenza A (Flu A) and B (Flu B) viruses are responsible for severe acute respiratory infections (SARI) worldwide, with a morbidity of 5 million and mortality of 29,000 - 650,000 deaths per year. Influe...Introduction: Influenza A (Flu A) and B (Flu B) viruses are responsible for severe acute respiratory infections (SARI) worldwide, with a morbidity of 5 million and mortality of 29,000 - 650,000 deaths per year. Influenza B viruses are an important cause of respiratory infections in humans, but they tend to be underappreciated due to the predominance of Influenza A. No molecular study on Influenza B has been carried out in the DRC. This study was conducted to document the molecular evolution of the hemagglutinin (HA) gene in the circulating Influenza B strains over the eight consecutive epidemic seasons (from 2015 to 2022). Methods: Samples were collected from outpatient cases suspected of influenza-like illness (ILI) and in all hospitalized patients with SARI from January 2015 to December 2022. Molecular analysis was done to determine influenza type and subtype, and then segments encoding the HA gene of Influenza B viruses were performed. Results: Of 8497 samples collected and tested, 639 (7.5%) were positive for influenza viruses, including 389 (60.8%) for Influenza A viruses and 248 (38,8%) for Influenza B viruses. Of the positive Influenza B samples, 91 were sequenced, including 26 belonging to the B/Yamagata lineage and 65 to the B/Victoria lineage. The HA gene of Influenza B viruses circulating in the DRC showed deletions in the HA1 region. Molecular analysis of Influenza B viruses reflects the genetic diversity of Influenza B/Yam virus clades (Y2, Y3, Y3V1A) alternating with Influenza B/Victoria virus clades (V1A, V1A.3) depending on the year and influenza seasons. The phylogenetic analysis of these Influenza B strains shows compatibility with the corresponding vaccine strains that the WHO had validated for each influenza season. Conclusion: This study underscores the importance of continuous molecular surveillance of Influenza B viruses in the DRC to understand their epidemiology and evolutionary dynamics. Identifying mutations, such as HA deletions, is critical for assessing their impact on transmissibility vaccine efficacy and guiding effective vaccination and control strategies.展开更多
Varietal deficiencies of upland rice lead to a low paddy grain yield. The aim of this study was to mutagenesis upland rice varieties to improve their agronomic performance. Seeds of varieties FKR45N and FKR47N were th...Varietal deficiencies of upland rice lead to a low paddy grain yield. The aim of this study was to mutagenesis upland rice varieties to improve their agronomic performance. Seeds of varieties FKR45N and FKR47N were therefore irradiated with doses 300, 350 and 400 Gy. The irradiated seeds were sown and the panicles of the M1 plants were individually harvested, and then were advanced to M4 using the “one panicle - one progeny” method. The agronomic performance of M4 lines was compared to that of their parent. The gamma ray mutagenesis has induced significant variability in five yield components, i.e., plant height, main panicle length, total numbers of tillers and productive tillers and paddy grain yield between mutant lines. The highest variabilities were shown for the total number of tillers and the number of productive tillers as well as FKR45N (CV% = 40 % and 36%) and FKR47N (CV% = 31% and 30%) mutant lines. Principal component analysis led to rank the mutant lines from each variety in three clusters. The Pearson correlation showed that the paddy grain yield was significantly and positively correlated with the number of productive tillers (r = 0.61) and plant height (r = 0.66) for FKR47N mutant lines, and these correlation coefficients were r = 0.52 and r = 0.51 for FKR45N mutant lines, respectively. Gamma-ray irradiation also induced an earliness of 50% flowering of 62 days after sowing (DAS) in two FKR45N mutant lines and 67 DAS in one of KR47N mutant lines. The paddy grain yield was improved by 120% and 20% in two FKR45N and FKR47N mutant lines, respectively. A dwarf FKR45N mutant line with an early flowering of 67 DAS and a paddy grain yield (2.34 t ha−1) was generated. These results suggested that any positive increase in the six quantitative traits will increase the paddy grain yield.展开更多
Smallholder farming in West Africa faces various challenges, such as limited access to seeds, fertilizers, modern mechanization, and agricultural climate services. Crop productivity obtained under these conditions var...Smallholder farming in West Africa faces various challenges, such as limited access to seeds, fertilizers, modern mechanization, and agricultural climate services. Crop productivity obtained under these conditions varies significantly from one farmer to another, making it challenging to accurately estimate crop production through crop models. This limitation has implications for the reliability of using crop models as agricultural decision-making support tools. To support decision making in agriculture, an approach combining a genetic algorithm (GA) with the crop model AquaCrop is proposed for a location-specific calibration of maize cropping. In this approach, AquaCrop is used to simulate maize crop yield while the GA is used to derive optimal parameters set at grid cell resolution from various combinations of cultivar parameters and crop management in the process of crop and management options calibration. Statistics on pairwise simulated and observed yields indicate that the coefficient of determination varies from 0.20 to 0.65, with a yield deviation ranging from 8% to 36% across Burkina Faso (BF). An analysis of the optimal parameter sets shows that regardless of the climatic zone, a base temperature of 10˚C and an upper temperature of 32˚C is observed in at least 50% of grid cells. The growing season length and the harvest index vary significantly across BF, with the highest values found in the Soudanian zone and the lowest values in the Sahelian zone. Regarding management strategies, the fertility mean rate is approximately 35%, 39%, and 49% for the Sahelian, Soudano-sahelian, and Soudanian zones, respectively. The mean weed cover is around 36%, with the Sahelian and Soudano-sahelian zones showing the highest variability. The proposed approach can be an alternative to the conventional one-size-fits-all approach commonly used for regional crop modeling. Moreover, it has the potential to explore the performance of cropping strategies to adapt to changing climate conditions.展开更多
Duchenne muscular dystrophy (DMD) is a hereditary, progressive muscular disorder inherited in an X-linked recessive pattern (Xp21). It typically manifests in childhood and follows a severe, rapid progression. Only mal...Duchenne muscular dystrophy (DMD) is a hereditary, progressive muscular disorder inherited in an X-linked recessive pattern (Xp21). It typically manifests in childhood and follows a severe, rapid progression. Only males are affected, while females are usually carriers. Given the genetic nature of DMD, genetic counseling is an essential service for individuals affected by or at risk of carrying the disease. This service provides not only crucial medical information but also psychosocial support and ongoing management for both patients and their families. Since the discovery of the dystrophin gene in 1987, advancements in molecular genetics have made it possible to precisely identify the genes responsible for many neuromuscular diseases. These developments have revolutionized diagnosis, prognosis, and most importantly, genetic counseling, offering significant benefits for both patients and their families. To highlight the significance of these advancements, this case report focuses on a 10-year-old boy (Y) diagnosed with DMD. It emphasizes the familial nature of the disease, with Y’s two brothers, three cousins, and two maternal uncles also affected, underscoring the inherited pattern of DMD. This reinforces the critical need for early intervention, particularly in regions with high consanguinity, such as North Africa and the Middle East, where genetic counseling and prenatal diagnosis are even more essential. Additionally, the report explores the clinical presentation, diagnostic findings, and promising emerging treatments, including RNA-based therapies, which may play a key role in the future management of DMD. In light of the above, this study underscores the importance of prenatal diagnosis and genetic counseling, particularly in regions like Morocco, where consanguinity rates are notably high. By focusing on preconception care and early genetic intervention, families can be better informed, leading to more effective disease management and support.展开更多
Objective: Hereditary breast and ovarian cancer syndrome (HBOC) increases the risk of developing breast, ovarian, prostate, and pancreatic cancers. With the insurance coverage for BRCA genetic testing, the number of i...Objective: Hereditary breast and ovarian cancer syndrome (HBOC) increases the risk of developing breast, ovarian, prostate, and pancreatic cancers. With the insurance coverage for BRCA genetic testing, the number of individuals diagnosed with HBOC has increased. To use these test results effectively, cascade genetic testing (CGT) is recommended for at-risk relatives;however, it is not yet widely available. The purpose of this study was to investigate the willingness of the general population to share genetic test results and undergo CGT, as well as to analyze the factors influencing these decisions. Based on these findings, the study aimed to identify the types of support needed to support the sharing of genetic test results and promote the use of CGT. Methods: An online survey was conducted with 500 participants (50 men and women from each of the five generations, ranging from 20 to 69 years). Results: Among the HBOC blood relatives, 51.2% wanted to share the genetic results and 71.9% expressed a willingness to undergo CGT. “Matters to be shared with relatives” and “Helpful for my cancer prevention” were identified as key factors promoting the willingness to share the BRCA genetic test results and undergo CGT. The motivation for “Helpful for my cancer prevention” had a particularly strong influence on the decision to undergo CGT. Conclusion: In the general population, there is an emerging understanding that the genetic information impacts not only the individuals but also their entire families and can be valuable for cancer prevention. To promote the sharing of BRCA genetic test results and CGT uptake, the healthcare providers should offer support tailored to each family’s circumstances and establish cancer prevention measures recommended for HBOC.展开更多
Background:Platinum chemotherapy(CT)remains the backbone of systemic therapy for patients with smallcell lung cancer(SCLC).The nucleotide excision repair(NER)pathway plays a central role in the repair of the DNA damag...Background:Platinum chemotherapy(CT)remains the backbone of systemic therapy for patients with smallcell lung cancer(SCLC).The nucleotide excision repair(NER)pathway plays a central role in the repair of the DNA damage exerted by platinum agents.Alteration in this repair mechanism may affect patients’survival.Materials and Methods:We conducted a retrospective analysis of data from 38 patients with extensive disease(ED)-SCLC who underwent platinum-CT at the Clinical Oncology Unit,Careggi University Hospital,Florence(Italy),from 2015 to 2020.mRNA expression analysis and single nucleotide polymorphism(SNP)characterization of three NER pathway genes—namely ERCC1,ERCC2,and ERCC5—were performed on patient tumor samples.Results:Overall,elevated expression of ERCC genes was observed in SCLC patients compared to healthy controls.Patients with low ERCC1 and ERCC5 expression levels exhibited a better median progression-free survival(mPFS=7.1 vs.4.9 months,p=0.39 for ERCC1 and mPFS=6.9 vs.4.8 months,p=0.093 for ERCC5)and overall survival(mOS=8.7 vs.6.0 months,p=0.4 for ERCC1 and mOS=7.2 vs.6.2 months,p=0.13 for ERCC5).Genotyping analysis of five SNPs of ERCC genes showed a longer survival in patients harboring the wild-type genotype or the heterozygous variant of the ERCC1 rs11615 SNP(p=0.24 for PFS and p=0.14 for OS)and of the rs13181 and rs1799793 ERCC2 SNPs(p=0.43 and p=0.26 for PFS and p=0.21 and p=0.16 for OS,respectively)compared to patients with homozygous mutant genotypes.Conclusions:The comprehensive analysis of ERCC gene expression and SNP variants appears to identify patients who derive greater survival benefits from platinum-CT.展开更多
This paper presents an optimized strategy for multiple integrations of photovoltaic distributed generation (PV-DG) within radial distribution power systems. The proposed methodology focuses on identifying the optimal ...This paper presents an optimized strategy for multiple integrations of photovoltaic distributed generation (PV-DG) within radial distribution power systems. The proposed methodology focuses on identifying the optimal allocation and sizing of multiple PV-DG units to minimize power losses using a probabilistic PV model and time-series power flow analysis. Addressing the uncertainties in PV output due to weather variability and diurnal cycles is critical. A probabilistic assessment offers a more robust analysis of DG integration’s impact on the grid, potentially leading to more reliable system planning. The presented approach employs a genetic algorithm (GA) and a determined PV output profile and probabilistic PV generation profile based on experimental measurements for one year of solar radiation in Cairo, Egypt. The proposed algorithms are validated using a co-simulation framework that integrates MATLAB and OpenDSS, enabling analysis on a 33-bus test system. This framework can act as a guideline for creating other co-simulation algorithms to enhance computing platforms for contemporary modern distribution systems within smart grids concept. The paper presents comparisons with previous research studies and various interesting findings such as the considered hours for developing the probabilistic model presents different results.展开更多
This paper introduces an optimized planning approach for integrating photovoltaic as distributed generation (PV-DG) into the radial distribution power systems, utilizing exhaustive load flow (ELF), loss sensitivity fa...This paper introduces an optimized planning approach for integrating photovoltaic as distributed generation (PV-DG) into the radial distribution power systems, utilizing exhaustive load flow (ELF), loss sensitivity factor (LSF), genetic algorithms (GA) methods, and numerical method based on LSF. The methodology aims to determine the optimal allocation and sizing of multiple PV-DG to minimize power loss through time series power flow analysis. An approach utilizing continuous sensitivity analysis is developed and inherently leverages power flow and loss equations to compute LSF of all buses in the system towards employing a dynamic PV-DG model for more accurate results. The algorithm uses a numerical grid search method to optimize PV-DG placement in a power distribution system, focusing on minimizing system losses. It combines iterative analysis, sensitivity assessment, and comprehensive visualization to identify and present the optimal PV-DG configurations. The present-ed algorithms are verified through co-simulation framework combining MATLAB and OpenDSS to carry out analysis for 12-bus radial distribution test system. The proposed numerical method is compared with other algorithms, such as ELF, LSF methods, and Genetic Algorithms (GA). Results show that the proposed numerical method performs well in comparison with LSF and ELF solutions.展开更多
Photosynthesis is one the most important chemical reaction in plants,and it is the ultimate energy source of any living organisms.The light and dark reactions are two essential phases of photosynthesis.Light reaction ...Photosynthesis is one the most important chemical reaction in plants,and it is the ultimate energy source of any living organisms.The light and dark reactions are two essential phases of photosynthesis.Light reaction harvests light energy to synthesize ATP and NADPH through an electron transport chain,and as well as giving out O_(2);dark reaction fixes CO_(2) into six carbon sugars by utilizing NADPH and energy from ATP.Subsequently,plants convert optical energy into chemical energy for maintaining growth and development through absorbing light energy.Here,firstly,we highlighted the biological importance of photosynthesis,and hormones and metabolites,photosynthetic and regulating enzymes,and signaling components that collectively regulate photosynthesis in tomato.Next,we reviewed the advances in tomato photosynthesis,including two aspects of genetic basis and genetic improvement.Numerous genes regulating tomato photosynthesis are gradually uncovered,and the interaction network among those genes remains to be constructed.Finally,the photosynthesis occurring in fruit of tomato and the relationship between photosynthesis in leaf and fruit were discussed.Leaves and fruits are photosynthate sources and sinks of tomato respectively,and interaction between photosynthesis in leaf and fruit exists.Additionally,future perspectives that needs to be addressed on tomato photosynthesis were proposed.展开更多
Inflammatory bowel disease(IBD)represents a significant disease burden marked by chronic inflammation and complications that adversely affect patients’quality of life.Effective diagnostic strategies involve clinical ...Inflammatory bowel disease(IBD)represents a significant disease burden marked by chronic inflammation and complications that adversely affect patients’quality of life.Effective diagnostic strategies involve clinical assessments,endoscopic evaluations,imaging studies,and biomarker testing,where early diagnosis is essential for effective management and prevention of long-term complications,highlighting the need for continual advancements in diagnostic methods.The intricate interplay between genetic factors and the outcomes of biological therapy is of critical importance.Unraveling the genetic determinants that influence responses and failures to biological therapy holds significant promise for optimizing treatment strategies for patients with IBD on biologics.Through an indepth examination of current literature,this review article synthesizes critical genetic markers associated with therapeutic efficacy and resistance in IBD.Understanding these genetic actors paves the way for personalized approaches,informing clinicians on predicting,tailoring,and enhancing the effectiveness of biological therapies for improved outcomes in patients with IBD.展开更多
Hypertension(HT)is a major risk factor for cardiovascular diseases.Krüppel-like factors(KLFs)are important transcription factors in eukaryotes.Studies have reported that KLF4 and KLF5 are correlated with several ...Hypertension(HT)is a major risk factor for cardiovascular diseases.Krüppel-like factors(KLFs)are important transcription factors in eukaryotes.Studies have reported that KLF4 and KLF5 are correlated with several cardiovascular diseases,but population-based studies on associations between HT and KLF4 or KLF5 have rarely been reported.Therefore,the current study investigated the associations of genetic variants and m RNA expression levels of KLF4 and KLF5 with HT,as well as the effects of antihypertensive drugs on the expression levels of these genes.The associations of one single-nucleotide polymorphism(SNP)in KLF4 and three SNPs in KLF5with HT were analyzed using a combination of case-control and cohort studies.The study populations were selected from a community-based cohort in four regions of Jiangsu province.The risks of HT were estimated through logistic and Cox regression analyses.In addition,m RNA expression levels of KLF4 and KLF5 were detected in 246 controls and 385 HT cases selected from the aforementioned cohort.Among the HT cases,263were not taking antihypertensive drugs[AHD(-)]and 122 were taking antihypertensive drugs[AHD(+)].In the case-control study,SNP rs9573096(C>T)in KLF5 was significantly associated with an increased risk of HT in the additive model(adjusted odds ratio[OR],1.106;95%confidence interval[CI],1.009 to 1.212).In the cohort study of the normotensive population,rs9573096 in KLF5 was also significantly associated with an increased risk of HT in the additive model(adjusted hazards ratio[HR],1.199;95%CI,1.070 to 1.344).KLF4 and KLF5m RNA expression levels were significantly higher in the AHD(-)group than in the control group(P<0.05),but lower in the AHD(+)group than in the AHD(-)group(P<0.05).The current study demonstrated the associations of KLF4 and KLF5 genetic variants with hypertension,as well as the association of the indicative variations in m RNA expression levels of KLF4 and KLF5 with the risk of hypertension and antihypertensive treatment.展开更多
The KCNQ family of genes(KCNQ1–KCNQ5),encoding voltage-gated K+(Kv)channels,have been demonstrated to play potential pathophysiological roles in cancers.However,the associations between genetic variants located in KC...The KCNQ family of genes(KCNQ1–KCNQ5),encoding voltage-gated K+(Kv)channels,have been demonstrated to play potential pathophysiological roles in cancers.However,the associations between genetic variants located in KCNQ family genes and gastric cancer survival remain unclear.In this study,a large-scale cohort comprising 1135 Chinese gastric cancer patients was enrolled to identify genetic variants in KCNQ family genes associated with overall survival(OS).Based on the survival evaluation of all five KCNQ family genes,KCNQ1 was selected for subsequent genetic analysis.In both Cox regression model and stepwise Cox regression model used to evaluate survival-related genetic variants,we found that KCNQ1 rs10832417G>T was associated with an increased OS in gastric cancer patients(adjusted hazards ratio[HR]=0.84,95%confidence interval[CI]:0.72–0.98,P=0.023).Subsequently,a nomogram was constructed to enhance the prognostic capacity and clinical translation of rs10832417 variants.The rs10832417 T allele was predicted to increase the minimum free energy of the secondary structure.Furthermore,we observed that gastric cancer patients with downregulated KCNQ1expression had a poorer survival across multiple public datasets.The findings of the present study indicate that KCNQ1 rs10832417 may serve as an independent prognostic predictor of gastric cancer,providing novel insights into the progression and survival of the disease.展开更多
Pediatric inflammatory bowel disease(IBD)is a chronic and heterogeneous disease.IBD is commonly classified into Crohn’s disease and ulcerative colitis.It is linked to serious symptoms and complications.The onset of I...Pediatric inflammatory bowel disease(IBD)is a chronic and heterogeneous disease.IBD is commonly classified into Crohn’s disease and ulcerative colitis.It is linked to serious symptoms and complications.The onset of IBD commonly occurs during adolescence.Despite the significant number of cases globally(~5 million),the causes of pediatric IBD,which constitutes 25%of IBD patients,are not yet fully understood.Apart from environmental factors,genetic factors contribute to a higher risk of developing IBD.The predisposition risk of IBD can be investigated using genetic testing.Genetic mechanisms of pediatric IBD are highly complex which resulted in difficulty in selecting effective treatment or patient management.Genetic variation of IBD would serve as a basis for precision medicine and allow for the discovery of more robust treatment avenues for this condition in pediatric patients.This review aims to discuss the genetics of pediatric IBD,and current development in the screening,diagnosis,and treatment based on genetic profiling of pediatric IBD subjects toward more personalized management of this disease.展开更多
Subtropical evergreen broad-leaved trees are usually vulnerable to freezing stress,while hexaploid wild Camellia oleifera shows strong freezing tolerance.As a valuable genetic resource of woody oil crop C.oleifera,wil...Subtropical evergreen broad-leaved trees are usually vulnerable to freezing stress,while hexaploid wild Camellia oleifera shows strong freezing tolerance.As a valuable genetic resource of woody oil crop C.oleifera,wild C.oleifera can serve as a case for studying the molecular bases of adaptive evolution to freezing stress.Here,47 wild C.oleifera from 11 natural distribution sites in China and 4 relative species of C.oleifera were selected for genome sequencing.“Min Temperature of Coldest Month”(BIO6)had the highest comprehensive contribution to wild C.oleifera distribution.The population genetic structure of wild C.oleifera could be divided into two groups:in cold winter(BIO6≤0℃)and warm winter(BIO6>0℃)areas.Wild C.oleifera in cold winter areas might have experienced stronger selection pressures and population bottlenecks with lower N_(e) than those in warm winter areas.155 singlenucleotide polymorphisms(SNPs)were significantly correlated with the key bioclimatic variables(106 SNPs significantly correlated with BIO6).Twenty key SNPs and 15 key copy number variation regions(CNVRs)were found with genotype differentiation>50%between the two groups of wild C.oleifera.Key SNPs in cis-regulatory elements might affect the expression of key genes associated with freezing tolerance,and they were also found within a CNVR suggesting interactions between them.Some key CNVRs in the exon regions were closely related to the differentially expressed genes under freezing stress.The findings suggest that rich SNPs and CNVRs in polyploid trees may contribute to the adaptive evolution to freezing stress.展开更多
文摘The relationship between genetics and infectious diseases is important in shaping our understanding of disease susceptibility,progression,and treatment.Recent research shows the impact of genetic variations,such as heme-oxygenase promoter length,on diseases like malaria and sepsis,revealing both protective and inconclusive effects.Studies on vaccine responses highlight genetic markers like human leukocyte antigens,emphasizing the potential for personalized immunization strategies.The ongoing battle against drug-resistant tuberculosis(TB)illustrates the complexity of genomic variants in predicting resistance,highlighting the need for integrated diagnostic tools.Additionally,genome-wide association studies reveal antibiotic resistance mechanisms in bacterial genomes,while host genetic polymorphisms,such as those in solute carrier family 11 member 1 and vitamin D receptor,demonstrate their role in TB susceptibility.Advanced techniques like metagenomic next-generation sequencing promise detailed pathogen detection but face challenges in cost and accessibility.A case report involving a highly virulent Mycobacterium TB strain with the pks1 gene further highlights the need for genetic insights in understanding disease severity and developing targeted interventions.This evolving landscape emphasizes the role of genetics in infectious diseases,while also addressing the need for standardized studies and accessible technologies.
文摘BACKGROUND Fluoropyrimidines are metabolized in the liver by the enzyme dihydropyrimidine dehydrogenase(DPD),encoded by the DPYD gene.About 7%of the European population is a carrier of DPYD gene polymorphisms associated with reduced DPD enzyme activity.AIM To assess the prevalence of DPYD polymorphisms and their impact on fluoropyrimidine tolerability in Italian patients with gastrointestinal malignancies.METHODS A total of 300 consecutive patients with a diagnosis of gastrointestinal malignancy and treated with a fluoropyrimidine-based regimen were included in the analysis and divided into two cohorts:(1)149 patients who started fluoropyrimidines after DPYD testing;and(2)151 patients treated without DPYD testing.Among the patients in cohort A,15%tested only the DPYD2A polymorphism,19%tested four polymorphisms(DPYD2A,HapB3,c.2846A>T,and DPYD13),and 66%tested five polymorphisms including DPYD6.RESULTS Overall,14.8%of patients were found to be carriers of a DPYD variant,the most common being DPYD6(12.1%).Patients in cohort A reported≥G3 toxicities(P=0.00098),particularly fewer nonhematological toxicities(P=0.0028)compared with cohort B,whereas there was no statistically significant difference between the two cohorts in hematological toxicities(P=0.6944).Significantly fewer chemotherapy dose reductions(P=0.00002)were observed in cohort A compared to cohort B,whereas there was no statistically significant differences in chemotherapy delay.CONCLUSION Although this study had a limited sample size,it provides additional information on the prevalence of DPYD polymorphisms in the Italian population and highlights the role of pharmacogenetic testing to prevent severe toxicity.
基金Supported by Science and Technology Development Plan Project of Weifang,No.2023YX005。
文摘BACKGROUND Cleidocranial dysplasia(CCD)is an infrequent clinical condition with an autosomal dominant inheritance pattern.It is characterized by abnormal clavicles,patent sutures and fontanelles,supernumerary teeth,and short stature.Approximately 60%-70%of patients with CCD have mutations in the RUNX family transcription factor 2 gene.However,prenatal diagnosis of CCD is difficult when the family history is unknown.CASE SUMMARY We report a rare case of fetal CCD with an unknown family history,confirmed by prenatal ultrasonography and genetic testing at a gestational age of 16 weeks.The genetic reports indicated that the fetus carried pathogenic mutations in the RUNX family transcription factor 2 gene(c.674G>A).After careful consideration,the pregnant woman and her family decided to continue the pregnancy.CONCLUSION Definitive prenatal diagnosis of CCD should include family history,ultrasound diagnosis,and genetic analysis,especially if family history is unknown.
基金Supported by National Natural Science Foundation of China,No.32270768,No.82273970,No.32070726,and No.82370715National Key R&D Program of China,No.2023YFC2507904the Innovation Group Project of Hubei Province,No.2023AFA026.
文摘Hepatitis B virus remains a major cause of cirrhosis and hepatocellular carcinoma,with genetic polymorphisms and mutations influencing immune responses and disease progression.Nguyen et al present novel findings on specific human leukocyte antigen(HLA)alleles,including rs2856718 of HLA-DQ and rs3077 and rs9277535 of HLA-DP,which may predispose individuals to cirrhosis and liver cancer,based on multi-clustering analysis.Here,we discuss the feasibility of this approach and identify key areas for further investigation,aiming to offer insights for advancing clinical practice and research in liver disease and related cancers.
文摘Maize is an important source of calories and protein in human lives in many countries of the world and is the main staple food in Africa, particularly in eastern Africa. In the Sudan, the low yield of maize was mainly due to the use of low yielding landraces. It is necessary to carry out breeding programs that deal with the production of high yielding, adaptable new varieties. Therefore, this study aimed to estimate genetic variability, heritability, genotypic performance and interrelationships among the traits. Ten maize genotypes evaluated at White Nile Research Station Farm, Kosti, of the Agricultural Research Corporation (ARC), Wad Medani Sudan were planted in a randomized complete block design with three replications during the two seasons of 2021 and 2022. Most evaluated genotypes exhibited a wide and significant variation in the 11 measured traits. Genotypic coefficient of variation and genetic advance were recorded for days to 50% tasseling, ear diameter (cm), number of grains per row and grain yield (t/ha) in both seasons. High heritability and genetic advance were recorded for grain yield, ear length, ear height, plant height, number of rows per ear, ear weight, days to 50% tasseling, 100-grain weight and days to 50% silking. Moreover, there was a highly significant and positive correlation of grain yield with number of rows per ear (r = 0.479), ear length (r = 0.381), 100-grain weight (r = 0.344) and days to 50% tasseling (r = 0.214). The highest yielding five genotypes across the seasons were TZCOM1/ZDPSYN (4.2 t/ha), EEPVAH-3 (4.2 t/ha), F2TWLY131228 (4.1 t/ha), PVA SYN6F2 (3.9 t/ha) and EEPVAH-9 (3.8 t/ha) these were needed to check the adaptability, stability and to test major maize growing areas to make sound recommendations for release.
文摘This study evaluated the molecular characterization of different ecotypes of B. aegyptiaca populations in the four sites: Koily alpha, Labgar, Ranérou and Ballou according to the environment with the aim of developing protection strategies. We sampled leaves of B. aegyptiaca in each individual from each site to extract and amplify a fragment of mitochondrial DNA including cytochrome b and then carefully preserved. DNA extraction, polymerase chain amplification and sequencing of MT-CYB were performed in 64 individuals. Genetic diversity and structure of B. aegyptiaca were determined using the MEGA, DNasp and Arlequin software. The results showed a high haplotype diversity and low nucleotide diversity, indicating a population expansion linked to an important gene flow. Genetic distances between populations were positively correlated with geographic distance. The importance of having highlighted this genetic differentiation of the B. aegyptiaca species between these sites is to be able to understand the degree of genetic heterogeneity of each and correlate it with adaptability because genetic diversity influences the adaptation of the species.
文摘Introduction: Influenza A (Flu A) and B (Flu B) viruses are responsible for severe acute respiratory infections (SARI) worldwide, with a morbidity of 5 million and mortality of 29,000 - 650,000 deaths per year. Influenza B viruses are an important cause of respiratory infections in humans, but they tend to be underappreciated due to the predominance of Influenza A. No molecular study on Influenza B has been carried out in the DRC. This study was conducted to document the molecular evolution of the hemagglutinin (HA) gene in the circulating Influenza B strains over the eight consecutive epidemic seasons (from 2015 to 2022). Methods: Samples were collected from outpatient cases suspected of influenza-like illness (ILI) and in all hospitalized patients with SARI from January 2015 to December 2022. Molecular analysis was done to determine influenza type and subtype, and then segments encoding the HA gene of Influenza B viruses were performed. Results: Of 8497 samples collected and tested, 639 (7.5%) were positive for influenza viruses, including 389 (60.8%) for Influenza A viruses and 248 (38,8%) for Influenza B viruses. Of the positive Influenza B samples, 91 were sequenced, including 26 belonging to the B/Yamagata lineage and 65 to the B/Victoria lineage. The HA gene of Influenza B viruses circulating in the DRC showed deletions in the HA1 region. Molecular analysis of Influenza B viruses reflects the genetic diversity of Influenza B/Yam virus clades (Y2, Y3, Y3V1A) alternating with Influenza B/Victoria virus clades (V1A, V1A.3) depending on the year and influenza seasons. The phylogenetic analysis of these Influenza B strains shows compatibility with the corresponding vaccine strains that the WHO had validated for each influenza season. Conclusion: This study underscores the importance of continuous molecular surveillance of Influenza B viruses in the DRC to understand their epidemiology and evolutionary dynamics. Identifying mutations, such as HA deletions, is critical for assessing their impact on transmissibility vaccine efficacy and guiding effective vaccination and control strategies.
文摘Varietal deficiencies of upland rice lead to a low paddy grain yield. The aim of this study was to mutagenesis upland rice varieties to improve their agronomic performance. Seeds of varieties FKR45N and FKR47N were therefore irradiated with doses 300, 350 and 400 Gy. The irradiated seeds were sown and the panicles of the M1 plants were individually harvested, and then were advanced to M4 using the “one panicle - one progeny” method. The agronomic performance of M4 lines was compared to that of their parent. The gamma ray mutagenesis has induced significant variability in five yield components, i.e., plant height, main panicle length, total numbers of tillers and productive tillers and paddy grain yield between mutant lines. The highest variabilities were shown for the total number of tillers and the number of productive tillers as well as FKR45N (CV% = 40 % and 36%) and FKR47N (CV% = 31% and 30%) mutant lines. Principal component analysis led to rank the mutant lines from each variety in three clusters. The Pearson correlation showed that the paddy grain yield was significantly and positively correlated with the number of productive tillers (r = 0.61) and plant height (r = 0.66) for FKR47N mutant lines, and these correlation coefficients were r = 0.52 and r = 0.51 for FKR45N mutant lines, respectively. Gamma-ray irradiation also induced an earliness of 50% flowering of 62 days after sowing (DAS) in two FKR45N mutant lines and 67 DAS in one of KR47N mutant lines. The paddy grain yield was improved by 120% and 20% in two FKR45N and FKR47N mutant lines, respectively. A dwarf FKR45N mutant line with an early flowering of 67 DAS and a paddy grain yield (2.34 t ha−1) was generated. These results suggested that any positive increase in the six quantitative traits will increase the paddy grain yield.
文摘Smallholder farming in West Africa faces various challenges, such as limited access to seeds, fertilizers, modern mechanization, and agricultural climate services. Crop productivity obtained under these conditions varies significantly from one farmer to another, making it challenging to accurately estimate crop production through crop models. This limitation has implications for the reliability of using crop models as agricultural decision-making support tools. To support decision making in agriculture, an approach combining a genetic algorithm (GA) with the crop model AquaCrop is proposed for a location-specific calibration of maize cropping. In this approach, AquaCrop is used to simulate maize crop yield while the GA is used to derive optimal parameters set at grid cell resolution from various combinations of cultivar parameters and crop management in the process of crop and management options calibration. Statistics on pairwise simulated and observed yields indicate that the coefficient of determination varies from 0.20 to 0.65, with a yield deviation ranging from 8% to 36% across Burkina Faso (BF). An analysis of the optimal parameter sets shows that regardless of the climatic zone, a base temperature of 10˚C and an upper temperature of 32˚C is observed in at least 50% of grid cells. The growing season length and the harvest index vary significantly across BF, with the highest values found in the Soudanian zone and the lowest values in the Sahelian zone. Regarding management strategies, the fertility mean rate is approximately 35%, 39%, and 49% for the Sahelian, Soudano-sahelian, and Soudanian zones, respectively. The mean weed cover is around 36%, with the Sahelian and Soudano-sahelian zones showing the highest variability. The proposed approach can be an alternative to the conventional one-size-fits-all approach commonly used for regional crop modeling. Moreover, it has the potential to explore the performance of cropping strategies to adapt to changing climate conditions.
文摘Duchenne muscular dystrophy (DMD) is a hereditary, progressive muscular disorder inherited in an X-linked recessive pattern (Xp21). It typically manifests in childhood and follows a severe, rapid progression. Only males are affected, while females are usually carriers. Given the genetic nature of DMD, genetic counseling is an essential service for individuals affected by or at risk of carrying the disease. This service provides not only crucial medical information but also psychosocial support and ongoing management for both patients and their families. Since the discovery of the dystrophin gene in 1987, advancements in molecular genetics have made it possible to precisely identify the genes responsible for many neuromuscular diseases. These developments have revolutionized diagnosis, prognosis, and most importantly, genetic counseling, offering significant benefits for both patients and their families. To highlight the significance of these advancements, this case report focuses on a 10-year-old boy (Y) diagnosed with DMD. It emphasizes the familial nature of the disease, with Y’s two brothers, three cousins, and two maternal uncles also affected, underscoring the inherited pattern of DMD. This reinforces the critical need for early intervention, particularly in regions with high consanguinity, such as North Africa and the Middle East, where genetic counseling and prenatal diagnosis are even more essential. Additionally, the report explores the clinical presentation, diagnostic findings, and promising emerging treatments, including RNA-based therapies, which may play a key role in the future management of DMD. In light of the above, this study underscores the importance of prenatal diagnosis and genetic counseling, particularly in regions like Morocco, where consanguinity rates are notably high. By focusing on preconception care and early genetic intervention, families can be better informed, leading to more effective disease management and support.
文摘Objective: Hereditary breast and ovarian cancer syndrome (HBOC) increases the risk of developing breast, ovarian, prostate, and pancreatic cancers. With the insurance coverage for BRCA genetic testing, the number of individuals diagnosed with HBOC has increased. To use these test results effectively, cascade genetic testing (CGT) is recommended for at-risk relatives;however, it is not yet widely available. The purpose of this study was to investigate the willingness of the general population to share genetic test results and undergo CGT, as well as to analyze the factors influencing these decisions. Based on these findings, the study aimed to identify the types of support needed to support the sharing of genetic test results and promote the use of CGT. Methods: An online survey was conducted with 500 participants (50 men and women from each of the five generations, ranging from 20 to 69 years). Results: Among the HBOC blood relatives, 51.2% wanted to share the genetic results and 71.9% expressed a willingness to undergo CGT. “Matters to be shared with relatives” and “Helpful for my cancer prevention” were identified as key factors promoting the willingness to share the BRCA genetic test results and undergo CGT. The motivation for “Helpful for my cancer prevention” had a particularly strong influence on the decision to undergo CGT. Conclusion: In the general population, there is an emerging understanding that the genetic information impacts not only the individuals but also their entire families and can be valuable for cancer prevention. To promote the sharing of BRCA genetic test results and CGT uptake, the healthcare providers should offer support tailored to each family’s circumstances and establish cancer prevention measures recommended for HBOC.
文摘Background:Platinum chemotherapy(CT)remains the backbone of systemic therapy for patients with smallcell lung cancer(SCLC).The nucleotide excision repair(NER)pathway plays a central role in the repair of the DNA damage exerted by platinum agents.Alteration in this repair mechanism may affect patients’survival.Materials and Methods:We conducted a retrospective analysis of data from 38 patients with extensive disease(ED)-SCLC who underwent platinum-CT at the Clinical Oncology Unit,Careggi University Hospital,Florence(Italy),from 2015 to 2020.mRNA expression analysis and single nucleotide polymorphism(SNP)characterization of three NER pathway genes—namely ERCC1,ERCC2,and ERCC5—were performed on patient tumor samples.Results:Overall,elevated expression of ERCC genes was observed in SCLC patients compared to healthy controls.Patients with low ERCC1 and ERCC5 expression levels exhibited a better median progression-free survival(mPFS=7.1 vs.4.9 months,p=0.39 for ERCC1 and mPFS=6.9 vs.4.8 months,p=0.093 for ERCC5)and overall survival(mOS=8.7 vs.6.0 months,p=0.4 for ERCC1 and mOS=7.2 vs.6.2 months,p=0.13 for ERCC5).Genotyping analysis of five SNPs of ERCC genes showed a longer survival in patients harboring the wild-type genotype or the heterozygous variant of the ERCC1 rs11615 SNP(p=0.24 for PFS and p=0.14 for OS)and of the rs13181 and rs1799793 ERCC2 SNPs(p=0.43 and p=0.26 for PFS and p=0.21 and p=0.16 for OS,respectively)compared to patients with homozygous mutant genotypes.Conclusions:The comprehensive analysis of ERCC gene expression and SNP variants appears to identify patients who derive greater survival benefits from platinum-CT.
文摘This paper presents an optimized strategy for multiple integrations of photovoltaic distributed generation (PV-DG) within radial distribution power systems. The proposed methodology focuses on identifying the optimal allocation and sizing of multiple PV-DG units to minimize power losses using a probabilistic PV model and time-series power flow analysis. Addressing the uncertainties in PV output due to weather variability and diurnal cycles is critical. A probabilistic assessment offers a more robust analysis of DG integration’s impact on the grid, potentially leading to more reliable system planning. The presented approach employs a genetic algorithm (GA) and a determined PV output profile and probabilistic PV generation profile based on experimental measurements for one year of solar radiation in Cairo, Egypt. The proposed algorithms are validated using a co-simulation framework that integrates MATLAB and OpenDSS, enabling analysis on a 33-bus test system. This framework can act as a guideline for creating other co-simulation algorithms to enhance computing platforms for contemporary modern distribution systems within smart grids concept. The paper presents comparisons with previous research studies and various interesting findings such as the considered hours for developing the probabilistic model presents different results.
文摘This paper introduces an optimized planning approach for integrating photovoltaic as distributed generation (PV-DG) into the radial distribution power systems, utilizing exhaustive load flow (ELF), loss sensitivity factor (LSF), genetic algorithms (GA) methods, and numerical method based on LSF. The methodology aims to determine the optimal allocation and sizing of multiple PV-DG to minimize power loss through time series power flow analysis. An approach utilizing continuous sensitivity analysis is developed and inherently leverages power flow and loss equations to compute LSF of all buses in the system towards employing a dynamic PV-DG model for more accurate results. The algorithm uses a numerical grid search method to optimize PV-DG placement in a power distribution system, focusing on minimizing system losses. It combines iterative analysis, sensitivity assessment, and comprehensive visualization to identify and present the optimal PV-DG configurations. The present-ed algorithms are verified through co-simulation framework combining MATLAB and OpenDSS to carry out analysis for 12-bus radial distribution test system. The proposed numerical method is compared with other algorithms, such as ELF, LSF methods, and Genetic Algorithms (GA). Results show that the proposed numerical method performs well in comparison with LSF and ELF solutions.
基金supported by grants from the National Key Research&Development Plan(Grants Nos.2022YFF10030022022YFD1200502)+7 种基金National Natural Science Foundation of China(Grant Nos.3237269631991182)Wuhan Biological Breeding Major Project(Grant No.2022021302024852)Key Project of Hubei Hongshan Laboratory(2021hszd007)HZAU-AGIS Cooperation Fund(Grant No.SZYJY2023022)Funds for High Quality Development of Hubei Seed Industry(HBZY2023B004)Hubei Agriculture Research System(2023HBSTX4-06)Hubei Key Research&Development Plan(Grants Nos.2022BBA0066,2022BBA0062)。
文摘Photosynthesis is one the most important chemical reaction in plants,and it is the ultimate energy source of any living organisms.The light and dark reactions are two essential phases of photosynthesis.Light reaction harvests light energy to synthesize ATP and NADPH through an electron transport chain,and as well as giving out O_(2);dark reaction fixes CO_(2) into six carbon sugars by utilizing NADPH and energy from ATP.Subsequently,plants convert optical energy into chemical energy for maintaining growth and development through absorbing light energy.Here,firstly,we highlighted the biological importance of photosynthesis,and hormones and metabolites,photosynthetic and regulating enzymes,and signaling components that collectively regulate photosynthesis in tomato.Next,we reviewed the advances in tomato photosynthesis,including two aspects of genetic basis and genetic improvement.Numerous genes regulating tomato photosynthesis are gradually uncovered,and the interaction network among those genes remains to be constructed.Finally,the photosynthesis occurring in fruit of tomato and the relationship between photosynthesis in leaf and fruit were discussed.Leaves and fruits are photosynthate sources and sinks of tomato respectively,and interaction between photosynthesis in leaf and fruit exists.Additionally,future perspectives that needs to be addressed on tomato photosynthesis were proposed.
基金Supported by The European Union-Next Generation EU,through the National Recovery and Resilience Plan of the Republic of Bulgaria,No.BG-RRP-2.004-0008。
文摘Inflammatory bowel disease(IBD)represents a significant disease burden marked by chronic inflammation and complications that adversely affect patients’quality of life.Effective diagnostic strategies involve clinical assessments,endoscopic evaluations,imaging studies,and biomarker testing,where early diagnosis is essential for effective management and prevention of long-term complications,highlighting the need for continual advancements in diagnostic methods.The intricate interplay between genetic factors and the outcomes of biological therapy is of critical importance.Unraveling the genetic determinants that influence responses and failures to biological therapy holds significant promise for optimizing treatment strategies for patients with IBD on biologics.Through an indepth examination of current literature,this review article synthesizes critical genetic markers associated with therapeutic efficacy and resistance in IBD.Understanding these genetic actors paves the way for personalized approaches,informing clinicians on predicting,tailoring,and enhancing the effectiveness of biological therapies for improved outcomes in patients with IBD.
基金supported by the National Natural Science Foundation of China(Grant Nos.81872686 and 82173611)the National Key Research and Development Program of China(Grant No.2018YFC2000703)the Priority Academic Program for the Development of Jiangsu Higher Education Institutions(Public Health and Preventive Medicine)。
文摘Hypertension(HT)is a major risk factor for cardiovascular diseases.Krüppel-like factors(KLFs)are important transcription factors in eukaryotes.Studies have reported that KLF4 and KLF5 are correlated with several cardiovascular diseases,but population-based studies on associations between HT and KLF4 or KLF5 have rarely been reported.Therefore,the current study investigated the associations of genetic variants and m RNA expression levels of KLF4 and KLF5 with HT,as well as the effects of antihypertensive drugs on the expression levels of these genes.The associations of one single-nucleotide polymorphism(SNP)in KLF4 and three SNPs in KLF5with HT were analyzed using a combination of case-control and cohort studies.The study populations were selected from a community-based cohort in four regions of Jiangsu province.The risks of HT were estimated through logistic and Cox regression analyses.In addition,m RNA expression levels of KLF4 and KLF5 were detected in 246 controls and 385 HT cases selected from the aforementioned cohort.Among the HT cases,263were not taking antihypertensive drugs[AHD(-)]and 122 were taking antihypertensive drugs[AHD(+)].In the case-control study,SNP rs9573096(C>T)in KLF5 was significantly associated with an increased risk of HT in the additive model(adjusted odds ratio[OR],1.106;95%confidence interval[CI],1.009 to 1.212).In the cohort study of the normotensive population,rs9573096 in KLF5 was also significantly associated with an increased risk of HT in the additive model(adjusted hazards ratio[HR],1.199;95%CI,1.070 to 1.344).KLF4 and KLF5m RNA expression levels were significantly higher in the AHD(-)group than in the control group(P<0.05),but lower in the AHD(+)group than in the AHD(-)group(P<0.05).The current study demonstrated the associations of KLF4 and KLF5 genetic variants with hypertension,as well as the association of the indicative variations in m RNA expression levels of KLF4 and KLF5 with the risk of hypertension and antihypertensive treatment.
基金supported by grants from the National Natural Science Foundation of China(Grant No.82273458 to Jinfei Chen)the Start-up Fund for the Recruited Talents of the First Affiliated Hospital of Wenzhou Medical University(Grant No.2021QD025 to Jinfei Chen)。
文摘The KCNQ family of genes(KCNQ1–KCNQ5),encoding voltage-gated K+(Kv)channels,have been demonstrated to play potential pathophysiological roles in cancers.However,the associations between genetic variants located in KCNQ family genes and gastric cancer survival remain unclear.In this study,a large-scale cohort comprising 1135 Chinese gastric cancer patients was enrolled to identify genetic variants in KCNQ family genes associated with overall survival(OS).Based on the survival evaluation of all five KCNQ family genes,KCNQ1 was selected for subsequent genetic analysis.In both Cox regression model and stepwise Cox regression model used to evaluate survival-related genetic variants,we found that KCNQ1 rs10832417G>T was associated with an increased OS in gastric cancer patients(adjusted hazards ratio[HR]=0.84,95%confidence interval[CI]:0.72–0.98,P=0.023).Subsequently,a nomogram was constructed to enhance the prognostic capacity and clinical translation of rs10832417 variants.The rs10832417 T allele was predicted to increase the minimum free energy of the secondary structure.Furthermore,we observed that gastric cancer patients with downregulated KCNQ1expression had a poorer survival across multiple public datasets.The findings of the present study indicate that KCNQ1 rs10832417 may serve as an independent prognostic predictor of gastric cancer,providing novel insights into the progression and survival of the disease.
文摘Pediatric inflammatory bowel disease(IBD)is a chronic and heterogeneous disease.IBD is commonly classified into Crohn’s disease and ulcerative colitis.It is linked to serious symptoms and complications.The onset of IBD commonly occurs during adolescence.Despite the significant number of cases globally(~5 million),the causes of pediatric IBD,which constitutes 25%of IBD patients,are not yet fully understood.Apart from environmental factors,genetic factors contribute to a higher risk of developing IBD.The predisposition risk of IBD can be investigated using genetic testing.Genetic mechanisms of pediatric IBD are highly complex which resulted in difficulty in selecting effective treatment or patient management.Genetic variation of IBD would serve as a basis for precision medicine and allow for the discovery of more robust treatment avenues for this condition in pediatric patients.This review aims to discuss the genetics of pediatric IBD,and current development in the screening,diagnosis,and treatment based on genetic profiling of pediatric IBD subjects toward more personalized management of this disease.
基金funded by the National Natural Science Foundation of China(grant no.32270238 and 31870311).
文摘Subtropical evergreen broad-leaved trees are usually vulnerable to freezing stress,while hexaploid wild Camellia oleifera shows strong freezing tolerance.As a valuable genetic resource of woody oil crop C.oleifera,wild C.oleifera can serve as a case for studying the molecular bases of adaptive evolution to freezing stress.Here,47 wild C.oleifera from 11 natural distribution sites in China and 4 relative species of C.oleifera were selected for genome sequencing.“Min Temperature of Coldest Month”(BIO6)had the highest comprehensive contribution to wild C.oleifera distribution.The population genetic structure of wild C.oleifera could be divided into two groups:in cold winter(BIO6≤0℃)and warm winter(BIO6>0℃)areas.Wild C.oleifera in cold winter areas might have experienced stronger selection pressures and population bottlenecks with lower N_(e) than those in warm winter areas.155 singlenucleotide polymorphisms(SNPs)were significantly correlated with the key bioclimatic variables(106 SNPs significantly correlated with BIO6).Twenty key SNPs and 15 key copy number variation regions(CNVRs)were found with genotype differentiation>50%between the two groups of wild C.oleifera.Key SNPs in cis-regulatory elements might affect the expression of key genes associated with freezing tolerance,and they were also found within a CNVR suggesting interactions between them.Some key CNVRs in the exon regions were closely related to the differentially expressed genes under freezing stress.The findings suggest that rich SNPs and CNVRs in polyploid trees may contribute to the adaptive evolution to freezing stress.
