摘要
目的探讨TNFα-308G/A位点基因多态性与小儿哮喘免疫功能和肺功能的相关性分析。方法收集2017年1月至2019年12月在我院就诊的小儿哮喘患者120例,同期收集来我院体检健康的同龄儿童100例作为对照组。通过提取两组研究对象的外周血DNA,经PCR扩增和酶切反应检测鉴定肿瘤坏死因子α(TNF-α)308 G/A基因的多态性,具体包括野生型(GG型)和杂合突变型(GA型)、纯合突变型(AA型)三种,比较两组研究对象308 G/A基因多态性的差异。进一步检测小儿哮喘患儿免疫功能和肺功能状态,评估TNF-α-308G/A位点基因多态性的差异。结果小儿哮喘患儿TNF-α基因308位点GG型占比和等位基因G频率均低于对照组,而AA型、GA型占比和等位基因A频率均高于对照组,差异均具有统计学意义(P<0.05)。进一步针对TNF-α基因308G/A位点的发病风险进行比较,GG型的发病优势比仅为0.336(P=0.018),而AA型的发病优势比高达3.472(P<0.001),GA型的发病优势比达1.822(P=0.006)。此外,单独比较突变型等位基因G和A频率,其优势比分别为0.568(P=0.025)、3.162(P<0.001)。GG组患儿呼吸频率(RR)、TEF50%、TEF75%等肺功能指标最低,而T_(PEF)/T_(E)、V_(PEF)/V_(E)等肺功能指标最高,GA组次之,AA组最次(P<0.05)。GG组患儿CD3^(+)T细胞、CD8^(+)T细胞的含量最高,CD4^(+)/CD8^(+)比值和血清IgE水平最低,GA组次之,AA组最次(P<0.05)。三组间CD4^(+)T细胞、血清IgA、IgG和IgM水平均相近(P>0.05)。结论小儿哮喘患儿TNF-α-308位点基因存在显著的A基因突变,且该突变与患儿不良肺功能和免疫功能均存在密切相关性。
Objective To investigate the correlation between TNF-α-308G/A polymorphism and immune function and lung function in children with asthma.Methods 120 children with asthma in our hospital were collected from January 2017 to December 2019,and 100 healthy children of the same age were collected as control group.The polymorphism of tumor necrosis factor-α(TNF-α)-308G/A gene was identified by PCR amplification and enzyme digestion,including wild-type(GG type),heterozygous type(GA type),homozygous type(AA type).The difference of TNF-α-308G/A gene polymorphism between the two groups was compared.Furthermore,the immune function and lung function of children with asthma were detected,and the difference of TNF-α-308G/A gene polymorphism was evaluated.Results The proportion of GG type and allele G frequency of TNF-αgene 308 locus in children with asthma were lower than those in control group,while the proportion of AA type,GA type and allele a frequency were higher in children with asthma than those in control group(P<0.05).Furthermore,the incidence risk of 308G/A locus of TNF-αgene was compared.The incidence odds ratio of GG type was only 0.336(P=0.018),while that of AA type was 3.472(P<0.001),and that of GA type was 1.822(P=0.006).In addition,the odds ratios of G and A alleles were 0.568(P=0.025)and 3.162(P<0.001)respectively.In GG group,RR,TEF50%,TEF75%were the lowest,while T_(PEF)/T_(E) and V_(PEF)/V_(E) were the highest,followed by GA group and AA group(P<0.05).The contents of CD3+T cells and CD8+T cells in GG group were the highest,the ratio of CD4+/CD8+and serum IgE level were the lowest,followed by GA group and AA group(P<0.05).The levels of CD4+T cells,serum IgA,IgG and IgM were similar among the three groups(P>0.05).Conclusion There is a significant mutation of TNF-α-308 in children with asthma,and the mutation is closely related to poor lung function and immune function.
作者
刘敬东
LIU Jingdong(Department of Pediatrics,Qingdao Women’s and Children’s Hospital,Qingdao,Shandong 266034,China)
出处
《中国优生与遗传杂志》
2021年第6期786-789,共4页
Chinese Journal of Birth Health & Heredity
