BACKGROUND Prevalence of the main rheumatic diseases in the Republic of Sakha(Yakutia)[RS(Y)],one of the regions of the Russian Federation,differs from the other regions of the Russian Federation due to its ethnic and...BACKGROUND Prevalence of the main rheumatic diseases in the Republic of Sakha(Yakutia)[RS(Y)],one of the regions of the Russian Federation,differs from the other regions of the Russian Federation due to its ethnic and geographic features.Knowledge regarding the prevalence and structure of juvenile idiopathic arthritis(JIA)allows us to shape the work of the pediatric rheumatology service in the region correctly,and optimize the healthcare system and the need for medica-tions.AIM To describe the epidemiological,demographic,clinical,and laboratory characteristics of children with JIA in the RS(Y)and evaluate the main outcomes.METHODS This retrospective cohort study assessed all the data from the medical histories of the patients(n=225)diagnosed with JIA(2016-2023)in the Cardiorheumatology Department of the M.E.Nikolaev National Center of Medicine.Pearson'sχ²test,Fisher's exact test,Mann–Whitney and Kruskal-Wallis tests were used for statistical analyses.RESULTS The ethnic prevalence of JIA is higher in Sakha than in Russian children at 110.1 per 100000 children and 69.4 per 100000 children,respectively.The prevalence of JIA among boys and girls in Sakha was similar,unlike in Russians,where the number of girls predominated.The JIA categories were as follows:(1)Systemic arthritis:3.5%;(2)Oligoarthritis(persistent and extended):33.8%;(3)Rheumatoid factor(RF)(+)polyarthritis:0.9%;(4)RF(-)polyarthritis:14.7%;(5)Enthesitis-related arthritis(ERA):44%;and(6)Psoriatic arthritis:3.1%.Prevalence of the ERA category was 4.4 times higher in Sakha children,but the prevalence of systemic arthritis was 2.9 times lower compared to Russians(P=0.0005).The frequency of uveitis was 10.2%,and the frequency of human leukocyte antigen(HLA)B27 was 39.6%in JIA children.Biologic treatment was received by 40.4%of JIA children and 45.3%achieved remission.CONCLUSION Higher JIA prevalence,male and ERA predominance,related to a higher frequency of HLA B27 are typical in RS(Y).These data might improve the pediatric rheumatology health service.展开更多
Hepatitis B virus infection remains a significant global health challenge,particularly in endemic regions like Vietnam.This article examines the groundbreaking study by Nguyen et al,which investigates the relationship...Hepatitis B virus infection remains a significant global health challenge,particularly in endemic regions like Vietnam.This article examines the groundbreaking study by Nguyen et al,which investigates the relationship between human leukocyte antigen-DP/DQ polymorphisms and hepatitis B virus-related liver disease progression.Through advanced multi-clustering analysis,the study reveals that the A-A-A haplotype(rs2856718-rs3077-rs9277535)provides protection against disease progression,while the G-G-G haplotype correlates with increased hepatocellular carcinoma susceptibility.The integration of machine learning approaches with genetic data offers promising avenues for refined disease prediction and personalized therapeutic strategies.This article discusses the implications for expanding study populations,implementing longitudinal cohort studies,and leveraging artificial intelligence for improved patient outcomes.展开更多
BACKGROUND Human leukocyte antigen(HLA)class II molecules are cell surface receptor proteins found on antigen-presenting cells.Polymorphisms and mutations in the HLA gene can affect the immune system and the progressi...BACKGROUND Human leukocyte antigen(HLA)class II molecules are cell surface receptor proteins found on antigen-presenting cells.Polymorphisms and mutations in the HLA gene can affect the immune system and the progression of hepatitis B.AIM To study the relation between rs2856718 of HLA-DQ,rs3077,and rs9277535 of HLA-DP,hepatitis B virus(HBV)-related cirrhosis,and hepatocellular carcinoma(HCC).METHODS In this case-control study,the genotypes of these single nucleotide polymorphisms(SNPs)were screened in 315 healthy controls,471 chronic hepatitis B patients,250 patients with HBV-related liver cirrhosis,and 251 patients with HCC using TaqMan real-time PCR.We conducted Hardy-Weinberg equilibrium and linkage disequilibrium tests on the genotype distributions of rs2856718,rs3077,and rs9277535 before hierarchical clustering analysis to build the complex interaction between the markers in each patient group.RESULTS The physical distance separating these SNPs was 29816 kB with the disequilibrium(D’)values ranging from 0.07 to 0.34.The close linkage between rs3077 and rs9277535 was attributed to a distance of 21 kB.The D’value decreased from moderate in the healthy control group(D’=0.50,P<0.05)to weak in the hepatic disease group(D’<0.3,P<0.05).In a combination of the three variants rs2856718,rs3077,and rs9277535,the A allele decreased hepatic disease risk[A-A-A haplotype,risk ratio(RR)=0.44(0.14;1.37),P<0.05].The G allele had the opposite effect[G-A/G-G haplotype,RR=1.12(1.02;1.23),P<0.05].In liver cancer cases,the A-A-A/G haplotype increased the risk of HCC by 1.58(P<0.05).CONCLUSION Rs9277535 affects liver fibrosis progression due to HBV infection,while rs3077 is associated with a risk of HBVrelated HCC.The link between rs2856718,rs3077,and rs9277535 and disease risk was determined using a multiclustering analysis.展开更多
AIM： To study the relationship of human leukocyte antigen （HLA）-DRB1 and -DQB1 alleles with the genetic susceptibility to HBV infection and the response to interferon （IFN） in HBV-infected patients. METHODS： Low...AIM： To study the relationship of human leukocyte antigen （HLA）-DRB1 and -DQB1 alleles with the genetic susceptibility to HBV infection and the response to interferon （IFN） in HBV-infected patients. METHODS： Low-resolution DNA typing kit was used to determine HLA-DR-1 and -DQB1 genes in 72 patients with chronic hepatitis B （CHB） and HLA-DRB1 in 200 healthy people ready to donate their bone marrow in Shanghai. Among CHB patients, 35 were treated with IFNα-1b for 24 wk. RESULTS： The frequencies of HLA-DRBI＊06, DRBI＊08 and DRB1＊16 alleles in 72 patients were higher than in 200 healthy people （2.08% vs0%, OR = 3.837, P= 0.018; 11.11% vs5.50%, OR = 2.148, P= 0.034; and 6.94% vs 3.00%, OR = 0.625, P = 0.049, respectively）; whereas that of DRBI＊07 allele was lower （2.78% vs 7.75%, OR = 0.340, P= 0.046）. The frequency of HLA-DRBI＊ 14 allele was higher in 11 responders to IFN compared with 24 non-responders （18.18% vs2.08%, OR = 10.444, P = 0.031）, whereas that of DQBI＊07 allele was inverse （9.09% vs37.50%, OR = 0.167, P= 0.021）. CONCLUSION： The polymorphism of HLA class II may influence the susceptibility to HBV infection and the response to IFN in studied CHB patients. Compared with other HLA-DRB1 alleles, HLA-DRBI＊06, DRBI＊08, and DRB1＊16 may be associated with chronicity of HBV infection, HLA-DRBI＊07 with protection against HBV infection, and HLA-DRB1＊14 allele may be associated with a high rate of the response of CHB patients to IFN treatment. Compared with other HLA-DQB1 alleles, HLA-DQBI＊07 may be associated with low response rate to IFN. 2005 The WJG Press and Elsevier Inc. All rights reserved展开更多
BACKGROUND: Liver transplantation (LT) is an effective therapy for end-stage hepatitis B virus (HBV) infection. Recurrence of HBV is one of the frequent complications. In the present study, we investigated whether hum...BACKGROUND: Liver transplantation (LT) is an effective therapy for end-stage hepatitis B virus (HBV) infection. Recurrence of HBV is one of the frequent complications. In the present study, we investigated whether human leukocyte antigen (HLA) matching influences the incidence of HBV recurrence, and the time point of HBV recurrence after LT. METHODS: One hundred and two recipients of LT with end-stage chronic HBV infection were reviewed. The triple-drug immunosuppression regimen consisted of tacrolimus, mycophenolate, and prednisone. All patients were subjected to prophylaxis with hepatitis B immunoglobulin and lamivudine. HLA typing was performed using a sequence-specific primer-polymerase chain reaction kit. Serology for hepatitis B and HBV DNA was examined using a commercial kit. RESULTS: The incidence of recurrent HBV infection post-LT was 6.86%. The recurrent infection of HBV was independent of the degree of H LA matching (P>0.05). The time point of HBV recurrence, however, was prolonged in HLA-A matched patients compared with matchless patients (P=0.049). The recurrence of HBV infection was independent of H LA compatibility. CONCLUSIONS: This retrospective analysis showed that more HLA-A locus compatibility is associated with a prolonged time of recurrence of HBV in patients after LT for end-stage HBV infection. The incidence of HBV recurrence is independent of HLA compatibility. (Hepatobiliary Pancreat Dis Int 2010; 9: 139-143)展开更多
BACKGROUND Ankylosing spondylitis(AS)is strongly associated with the human leukocyte antigen(HLA)B27 haplotype.In regions where conventional polymerase chain reaction for HLA typing is available for antigens such as H...BACKGROUND Ankylosing spondylitis(AS)is strongly associated with the human leukocyte antigen(HLA)B27 haplotype.In regions where conventional polymerase chain reaction for HLA typing is available for antigens such as HLA B27 or HLA B51,it is common to perform the HLA B27 test for evaluation of AS.While HLA B27-associated clustered occurrences of AS have been reported in families,we report the first case series of HLA B51-related occurrences of AS in a family.CASE SUMMARY A father and his daughters were diagnosed with AS and did not have the HLA B27 haplotype.Although they were positive for HLA B51,they exhibited no signs of Behçet’s disease(BD).Of the five daughters,one had AS,and three,including the daughter with AS,were positive for HLA B51.The two daughters with the HLA B51 haplotype(excluding the daughter with AS)exhibited bilateral grade 1 sacroiliitis,whereas the daughters without the HLA B51 haplotype did not have sacroiliitis.Thus,this Korean family exhibited a strong association with the HLA B51 haplotype and clinical sacroiliitis,irrespective of the symptoms of BD.CONCLUSION It is advisable to check for HLA B51 positivity in patients with AS/spondyloarthropathy who test negative for HLA B27.展开更多
A genome-wide association study recently showed that genetic variants in human leukocyte antigen (HLA)-DP loci were strongly associated with a risk of persistent infection of hepatitis B virus (HBV) in Japanese and Th...A genome-wide association study recently showed that genetic variants in human leukocyte antigen (HLA)-DP loci were strongly associated with a risk of persistent infection of hepatitis B virus (HBV) in Japanese and Thai individuals and variants in interleukin 28B (IL-28B) have been associated with responses to anti-hepatitis C virus (HCV) treatment. The aim of this study was to investigate whether the HLA-DP loci and IL-28B were associated with different outcomes of chronic HBV infection (CHB) in Chinese subjects. The rs9277535 near HLA-DPB1,rs3077 near HLA-DPA1, and rs12979860 near IL-28B were genotyped by direct sequencing in 185 CHB patients and 193 self-limited hepatitis B virus (SLHBV)-infected subjects who recovered from HBV infection. The rs9277535 near HLA-DPB1 was strongly associated with CHB (P=0.000 018 1, OR=1.905). This association was observed independent of HBV e antigen (HBeAg) status and HBV viral loads in HBeAg-positive CHB patients (P=0.000 4, OR=1.956), in HBeAg-negative CHB patients (P=0.000 9, OR=1.857), and in HBeAg-negative CHB individuals without detectable levels of HBV DNA in serum (P=0.001 1, OR=2.05). The rs3077 near HLA-DPA1 was associated with CHB (P=0.020 6, OR=0.686 5) and HBeAg-positive CHB infection status (P=0.014 3, OR=0.604 7). Meanwhile, a genetic variation of insertion-deletion (INDEL) polymorphism (rs361527, -/ATAAATGTTGA) near HLA-DPA1 was found to be associated with CHB (P=0.030 7, OR=0.702 8) and HBeAg-positive CHB infection status (P=0.023 3, OR=0.619). However,the rs12979860 genotype near IL-28B had no correlation with CHB. This study demonstrated that in the Han Chinese populations, HLA-DP loci, but not IL-28B, were associated with persistence of infection in different outcomes of HBV-infected patients; however, the mechanism needs to be further investigated.展开更多
目的发现和认定一个人类白细胞抗原(HLA)新等位基因。方法应用多聚酶链式反应—基于测序的分型技术(polymerase chain reaction-sequence based typing,PCR-SBT)进行HLA常规分型,HLA-B位点分型结果与等位基因B*35:03:01,51:01:01在112...目的发现和认定一个人类白细胞抗原(HLA)新等位基因。方法应用多聚酶链式反应—基于测序的分型技术(polymerase chain reaction-sequence based typing,PCR-SBT)进行HLA常规分型,HLA-B位点分型结果与等位基因B*35:03:01,51:01:01在112位有一个碱基不匹配,不能指定为任何HLA-B位点等位基因,用针对于B*35、B*51的序列特异性SSSP引物测序,确认与同源性最高的HLA等位基因序列的差异。结果测序结果表明该等位基因与其同源性最高的等位基因B*35:03:01的差异是在第2外显子112位的C>T,其突变导致密码子CGG>TGG,结果造成B*35:03:01氨基酸序列中14位的精氨酸(R)变为色氨酸(W)。结论该等位基因为HLA-B位点的一个新等位基因,世界卫生组织(WHO)HLA命名委员会将其正式命名为HLA-B*35:155。展开更多
Aim:Genetic polymorphisms of human leukocyte antigen(HLA)class II molecules are associated with chronic hepatitis B virus(HBV)infection.We aimed to investigate the impacts of HLA-II haplotypes on viral evolution and t...Aim:Genetic polymorphisms of human leukocyte antigen(HLA)class II molecules are associated with chronic hepatitis B virus(HBV)infection.We aimed to investigate the impacts of HLA-II haplotypes on viral evolution and the risks of HBV-caused liver diseases.Methods:HLA-DR-DQ-DP haplotypes were estimated in 1210 healthy controls,296 HBV clearance subjects,301 asymptomatic hepatitis B surface antigen carriers,770 chronic hepatitis B patients,443 HBV-related liver cirrhosis(LC)patients,and 1037 HBV-related hepatocellular carcinoma(HCC)patients.HBV mutations were determined by sequencing.The associations of HLA-DR-DQ-DP haplotypes with viral mutations and the risks of liver diseases were assessed by multivariate logistic regression.Results:Compared to HBV-free subjects,the haplotypes CCAACG,CCGACG,TCAATA,and TCGATA were associated with decreased HCC risk,with an odds ratio(OR)[95%confidence interval(CI)]of 0.62(0.40-0.95),0.60(0.39-0.92),0.73(0.54-0.98),and 0.58(0.42-0.78),respectively.CCAACG,CCGACG,and TCAATA were significantly associated with decreased frequencies of the HCC-risk HBV mutations:preS1 deletion,APOBECsignature HBV mutations in the core promoter and preS regions,A51C/T,G104C/T,and G146C/T.TCGATA and TTAACG were associated with increased LC risk,with an OR(95%CI)of 1.54(1.03-2.30)and 2.23(1.50-3.33),respectively.However,TCGATA and TTAACG were not consistently associated with the cirrhosis-risk HBV mutations.Conclusion:CCAACG,CCGACG,and TCAATA are inversely associated with HCC risk,possibly because they are involved in creating an immune microenvironment attenuating the generation of HCC-risk HBV mutations.TCGATA and TTAACG might predispose the polarity of immunity towards Th17 isotype related to LC.展开更多
文摘BACKGROUND Prevalence of the main rheumatic diseases in the Republic of Sakha(Yakutia)[RS(Y)],one of the regions of the Russian Federation,differs from the other regions of the Russian Federation due to its ethnic and geographic features.Knowledge regarding the prevalence and structure of juvenile idiopathic arthritis(JIA)allows us to shape the work of the pediatric rheumatology service in the region correctly,and optimize the healthcare system and the need for medica-tions.AIM To describe the epidemiological,demographic,clinical,and laboratory characteristics of children with JIA in the RS(Y)and evaluate the main outcomes.METHODS This retrospective cohort study assessed all the data from the medical histories of the patients(n=225)diagnosed with JIA(2016-2023)in the Cardiorheumatology Department of the M.E.Nikolaev National Center of Medicine.Pearson'sχ²test,Fisher's exact test,Mann–Whitney and Kruskal-Wallis tests were used for statistical analyses.RESULTS The ethnic prevalence of JIA is higher in Sakha than in Russian children at 110.1 per 100000 children and 69.4 per 100000 children,respectively.The prevalence of JIA among boys and girls in Sakha was similar,unlike in Russians,where the number of girls predominated.The JIA categories were as follows:(1)Systemic arthritis:3.5%;(2)Oligoarthritis(persistent and extended):33.8%;(3)Rheumatoid factor(RF)(+)polyarthritis:0.9%;(4)RF(-)polyarthritis:14.7%;(5)Enthesitis-related arthritis(ERA):44%;and(6)Psoriatic arthritis:3.1%.Prevalence of the ERA category was 4.4 times higher in Sakha children,but the prevalence of systemic arthritis was 2.9 times lower compared to Russians(P=0.0005).The frequency of uveitis was 10.2%,and the frequency of human leukocyte antigen(HLA)B27 was 39.6%in JIA children.Biologic treatment was received by 40.4%of JIA children and 45.3%achieved remission.CONCLUSION Higher JIA prevalence,male and ERA predominance,related to a higher frequency of HLA B27 are typical in RS(Y).These data might improve the pediatric rheumatology health service.
基金Supported by National Natural Science Foundation of China,No.82170406 and No.81970238.
文摘Hepatitis B virus infection remains a significant global health challenge,particularly in endemic regions like Vietnam.This article examines the groundbreaking study by Nguyen et al,which investigates the relationship between human leukocyte antigen-DP/DQ polymorphisms and hepatitis B virus-related liver disease progression.Through advanced multi-clustering analysis,the study reveals that the A-A-A haplotype(rs2856718-rs3077-rs9277535)provides protection against disease progression,while the G-G-G haplotype correlates with increased hepatocellular carcinoma susceptibility.The integration of machine learning approaches with genetic data offers promising avenues for refined disease prediction and personalized therapeutic strategies.This article discusses the implications for expanding study populations,implementing longitudinal cohort studies,and leveraging artificial intelligence for improved patient outcomes.
基金Supported by National Foundation for Science and Technology Development(NAFOSTED)-Ministry of Science and Technology,Viet Nam,No.108.02-2019.307.
文摘BACKGROUND Human leukocyte antigen(HLA)class II molecules are cell surface receptor proteins found on antigen-presenting cells.Polymorphisms and mutations in the HLA gene can affect the immune system and the progression of hepatitis B.AIM To study the relation between rs2856718 of HLA-DQ,rs3077,and rs9277535 of HLA-DP,hepatitis B virus(HBV)-related cirrhosis,and hepatocellular carcinoma(HCC).METHODS In this case-control study,the genotypes of these single nucleotide polymorphisms(SNPs)were screened in 315 healthy controls,471 chronic hepatitis B patients,250 patients with HBV-related liver cirrhosis,and 251 patients with HCC using TaqMan real-time PCR.We conducted Hardy-Weinberg equilibrium and linkage disequilibrium tests on the genotype distributions of rs2856718,rs3077,and rs9277535 before hierarchical clustering analysis to build the complex interaction between the markers in each patient group.RESULTS The physical distance separating these SNPs was 29816 kB with the disequilibrium(D’)values ranging from 0.07 to 0.34.The close linkage between rs3077 and rs9277535 was attributed to a distance of 21 kB.The D’value decreased from moderate in the healthy control group(D’=0.50,P<0.05)to weak in the hepatic disease group(D’<0.3,P<0.05).In a combination of the three variants rs2856718,rs3077,and rs9277535,the A allele decreased hepatic disease risk[A-A-A haplotype,risk ratio(RR)=0.44(0.14;1.37),P<0.05].The G allele had the opposite effect[G-A/G-G haplotype,RR=1.12(1.02;1.23),P<0.05].In liver cancer cases,the A-A-A/G haplotype increased the risk of HCC by 1.58(P<0.05).CONCLUSION Rs9277535 affects liver fibrosis progression due to HBV infection,while rs3077 is associated with a risk of HBVrelated HCC.The link between rs2856718,rs3077,and rs9277535 and disease risk was determined using a multiclustering analysis.
基金Supported by the Development Fund of Shanghai Science and Technology Committee, No. 014119052
文摘AIM： To study the relationship of human leukocyte antigen （HLA）-DRB1 and -DQB1 alleles with the genetic susceptibility to HBV infection and the response to interferon （IFN） in HBV-infected patients. METHODS： Low-resolution DNA typing kit was used to determine HLA-DR-1 and -DQB1 genes in 72 patients with chronic hepatitis B （CHB） and HLA-DRB1 in 200 healthy people ready to donate their bone marrow in Shanghai. Among CHB patients, 35 were treated with IFNα-1b for 24 wk. RESULTS： The frequencies of HLA-DRBI＊06, DRBI＊08 and DRB1＊16 alleles in 72 patients were higher than in 200 healthy people （2.08% vs0%, OR = 3.837, P= 0.018; 11.11% vs5.50%, OR = 2.148, P= 0.034; and 6.94% vs 3.00%, OR = 0.625, P = 0.049, respectively）; whereas that of DRBI＊07 allele was lower （2.78% vs 7.75%, OR = 0.340, P= 0.046）. The frequency of HLA-DRBI＊ 14 allele was higher in 11 responders to IFN compared with 24 non-responders （18.18% vs2.08%, OR = 10.444, P = 0.031）, whereas that of DQBI＊07 allele was inverse （9.09% vs37.50%, OR = 0.167, P= 0.021）. CONCLUSION： The polymorphism of HLA class II may influence the susceptibility to HBV infection and the response to IFN in studied CHB patients. Compared with other HLA-DRB1 alleles, HLA-DRBI＊06, DRBI＊08, and DRB1＊16 may be associated with chronicity of HBV infection, HLA-DRBI＊07 with protection against HBV infection, and HLA-DRB1＊14 allele may be associated with a high rate of the response of CHB patients to IFN treatment. Compared with other HLA-DQB1 alleles, HLA-DQBI＊07 may be associated with low response rate to IFN. 2005 The WJG Press and Elsevier Inc. All rights reserved
基金supported by grants from the National Basic Research Program of China(2007CB513005)the NationalNatural Science Foundation of China(30872239)+1 种基金Key Projects in the National Science&Technology Pillar Program in the Eleventh Five-year Plan Period(2008BA160B03)Zhejiang Health Science foundation(2009A083)
文摘BACKGROUND: Liver transplantation (LT) is an effective therapy for end-stage hepatitis B virus (HBV) infection. Recurrence of HBV is one of the frequent complications. In the present study, we investigated whether human leukocyte antigen (HLA) matching influences the incidence of HBV recurrence, and the time point of HBV recurrence after LT. METHODS: One hundred and two recipients of LT with end-stage chronic HBV infection were reviewed. The triple-drug immunosuppression regimen consisted of tacrolimus, mycophenolate, and prednisone. All patients were subjected to prophylaxis with hepatitis B immunoglobulin and lamivudine. HLA typing was performed using a sequence-specific primer-polymerase chain reaction kit. Serology for hepatitis B and HBV DNA was examined using a commercial kit. RESULTS: The incidence of recurrent HBV infection post-LT was 6.86%. The recurrent infection of HBV was independent of the degree of H LA matching (P>0.05). The time point of HBV recurrence, however, was prolonged in HLA-A matched patients compared with matchless patients (P=0.049). The recurrence of HBV infection was independent of H LA compatibility. CONCLUSIONS: This retrospective analysis showed that more HLA-A locus compatibility is associated with a prolonged time of recurrence of HBV in patients after LT for end-stage HBV infection. The incidence of HBV recurrence is independent of HLA compatibility. (Hepatobiliary Pancreat Dis Int 2010; 9: 139-143)
文摘BACKGROUND Ankylosing spondylitis(AS)is strongly associated with the human leukocyte antigen(HLA)B27 haplotype.In regions where conventional polymerase chain reaction for HLA typing is available for antigens such as HLA B27 or HLA B51,it is common to perform the HLA B27 test for evaluation of AS.While HLA B27-associated clustered occurrences of AS have been reported in families,we report the first case series of HLA B51-related occurrences of AS in a family.CASE SUMMARY A father and his daughters were diagnosed with AS and did not have the HLA B27 haplotype.Although they were positive for HLA B51,they exhibited no signs of Behçet’s disease(BD).Of the five daughters,one had AS,and three,including the daughter with AS,were positive for HLA B51.The two daughters with the HLA B51 haplotype(excluding the daughter with AS)exhibited bilateral grade 1 sacroiliitis,whereas the daughters without the HLA B51 haplotype did not have sacroiliitis.Thus,this Korean family exhibited a strong association with the HLA B51 haplotype and clinical sacroiliitis,irrespective of the symptoms of BD.CONCLUSION It is advisable to check for HLA B51 positivity in patients with AS/spondyloarthropathy who test negative for HLA B27.
基金sponsored by the National Key Technologies R&D Program of China during the Eleventh Five-Year Plan Period(2008ZX10002-007 and 2009ZX10004-314)the National High Technology Research and Development Program(2006AA02A411)
文摘A genome-wide association study recently showed that genetic variants in human leukocyte antigen (HLA)-DP loci were strongly associated with a risk of persistent infection of hepatitis B virus (HBV) in Japanese and Thai individuals and variants in interleukin 28B (IL-28B) have been associated with responses to anti-hepatitis C virus (HCV) treatment. The aim of this study was to investigate whether the HLA-DP loci and IL-28B were associated with different outcomes of chronic HBV infection (CHB) in Chinese subjects. The rs9277535 near HLA-DPB1,rs3077 near HLA-DPA1, and rs12979860 near IL-28B were genotyped by direct sequencing in 185 CHB patients and 193 self-limited hepatitis B virus (SLHBV)-infected subjects who recovered from HBV infection. The rs9277535 near HLA-DPB1 was strongly associated with CHB (P=0.000 018 1, OR=1.905). This association was observed independent of HBV e antigen (HBeAg) status and HBV viral loads in HBeAg-positive CHB patients (P=0.000 4, OR=1.956), in HBeAg-negative CHB patients (P=0.000 9, OR=1.857), and in HBeAg-negative CHB individuals without detectable levels of HBV DNA in serum (P=0.001 1, OR=2.05). The rs3077 near HLA-DPA1 was associated with CHB (P=0.020 6, OR=0.686 5) and HBeAg-positive CHB infection status (P=0.014 3, OR=0.604 7). Meanwhile, a genetic variation of insertion-deletion (INDEL) polymorphism (rs361527, -/ATAAATGTTGA) near HLA-DPA1 was found to be associated with CHB (P=0.030 7, OR=0.702 8) and HBeAg-positive CHB infection status (P=0.023 3, OR=0.619). However,the rs12979860 genotype near IL-28B had no correlation with CHB. This study demonstrated that in the Han Chinese populations, HLA-DP loci, but not IL-28B, were associated with persistence of infection in different outcomes of HBV-infected patients; however, the mechanism needs to be further investigated.
文摘目的发现和认定一个人类白细胞抗原(HLA)新等位基因。方法应用多聚酶链式反应—基于测序的分型技术(polymerase chain reaction-sequence based typing,PCR-SBT)进行HLA常规分型,HLA-B位点分型结果与等位基因B*35:03:01,51:01:01在112位有一个碱基不匹配,不能指定为任何HLA-B位点等位基因,用针对于B*35、B*51的序列特异性SSSP引物测序,确认与同源性最高的HLA等位基因序列的差异。结果测序结果表明该等位基因与其同源性最高的等位基因B*35:03:01的差异是在第2外显子112位的C>T,其突变导致密码子CGG>TGG,结果造成B*35:03:01氨基酸序列中14位的精氨酸(R)变为色氨酸(W)。结论该等位基因为HLA-B位点的一个新等位基因,世界卫生组织(WHO)HLA命名委员会将其正式命名为HLA-B*35:155。
文摘目的探讨人类白细胞抗原(human leukocyte antigen,HLA)基因多态性与乙型肝炎病毒(HBV)感染的相关性。方法收集云南省昆明市延安医院健康体检者静脉血样本501例,采用酶联免疫吸附试验(ELISA)检测HBV二对半,根据HBV二对半检测结果分为HBV携带组和既往感染组以及健康对照组3组,用序列特异性引物聚合酶链反应(polymerase chain reaction with sequence specific primers,PCR-SSP)基因分型技术检测HLA-A抗原的基因型,将HBV携带组和健康对照组以及HBV既往感染组和健康对照组的HLA-A基因多态性的分布频率进行比较。采用SPSS17.0软件进行数据统计分析。结果健康对照组HLA-A2阳性数占比47.49%,等位基因频率数占比31.29%;健康对照组基因分布频率总体与中华骨髓库发布的中国常见及确认的HLA-A等位基因表一致。HBV携带组HLA-A2阳性数占比63.04%,等位基因频率数占比42.23%,携带者的HLA-A2阳性率和等位基因频率差异有统计学意义(P<0.05);HBV既往感染组HLA-A2阳性数占比56.14%,等位基因频率数占比35.97%,既往感染组的HLA-A2阳性率和等位基因频率差异无统计学意义(P>0.05)。结论HLA-A2基因可能是慢性乙型肝炎HBV携带者的易感基因。
基金supported by the National Natural Science Foundation of China(91529305,81520108021,and 81673250 to GC)the National Key Basic Research Program of China(973 program)(2015CB554006 to GC).
文摘Aim:Genetic polymorphisms of human leukocyte antigen(HLA)class II molecules are associated with chronic hepatitis B virus(HBV)infection.We aimed to investigate the impacts of HLA-II haplotypes on viral evolution and the risks of HBV-caused liver diseases.Methods:HLA-DR-DQ-DP haplotypes were estimated in 1210 healthy controls,296 HBV clearance subjects,301 asymptomatic hepatitis B surface antigen carriers,770 chronic hepatitis B patients,443 HBV-related liver cirrhosis(LC)patients,and 1037 HBV-related hepatocellular carcinoma(HCC)patients.HBV mutations were determined by sequencing.The associations of HLA-DR-DQ-DP haplotypes with viral mutations and the risks of liver diseases were assessed by multivariate logistic regression.Results:Compared to HBV-free subjects,the haplotypes CCAACG,CCGACG,TCAATA,and TCGATA were associated with decreased HCC risk,with an odds ratio(OR)[95%confidence interval(CI)]of 0.62(0.40-0.95),0.60(0.39-0.92),0.73(0.54-0.98),and 0.58(0.42-0.78),respectively.CCAACG,CCGACG,and TCAATA were significantly associated with decreased frequencies of the HCC-risk HBV mutations:preS1 deletion,APOBECsignature HBV mutations in the core promoter and preS regions,A51C/T,G104C/T,and G146C/T.TCGATA and TTAACG were associated with increased LC risk,with an OR(95%CI)of 1.54(1.03-2.30)and 2.23(1.50-3.33),respectively.However,TCGATA and TTAACG were not consistently associated with the cirrhosis-risk HBV mutations.Conclusion:CCAACG,CCGACG,and TCAATA are inversely associated with HCC risk,possibly because they are involved in creating an immune microenvironment attenuating the generation of HCC-risk HBV mutations.TCGATA and TTAACG might predispose the polarity of immunity towards Th17 isotype related to LC.
