IL2RA基因多态性与中国汉族人群1型糖尿病的相关性研究  

Association of interleukin-2 receptor α gene polymorphisms with type 1 diabetes mellitus in Chinese Han population

作　　者：秦瑶[1] 徐宽枫[1] 李雨潇 陈阳[1] 施云[1] 顾愹[1] 顾威[2] 杨涛[1] 张梅[1] Qin Yao;Xu Kuanfeng;Li Yuxiao;Chen Yang;Shi Yun;Gu Yong;Gu Wei;Yang Tao;Zhang Mei(Department of Endocrinology,the First Affiliated Hospital of Nanjing Medical University,Nanjing 210029,China;Department of Endocrinology,Children′s Hospital of Nanjing Medical University,Nanjing 210008,China)

机构地区：[1]南京医科大学第一附属医院内分泌科,210029 [2]南京医科大学附属儿童医院内分泌科,210008

出　　处：《中华糖尿病杂志》2021年第11期1068-1074,共7页CHINESE JOURNAL OF DIABETES MELLITUS

基　　金：国家自然科学基金(81974103,81670756,82000747);江苏省科技厅重点研发计划(BE2018748);SDF·甜蜜医生培育项目(2019SD05)。

摘　　要：目的探讨中国汉族人群中白细胞介素2受体α(IL2RA)基因单核苷酸多态性(SNP)的分布特征及其与经典1型糖尿病(T1DM)的关系。方法收集2008年1月至2014年12月于南京医科大学第一附属医院和南京医科大学附属儿童医院就诊的T1DM患者和健康对照者。记录患者的血清C肽、锌转运体8抗体(ZnT8A)、谷氨酸脱羧酶抗体(GADA)、蛋白酪氨酸磷酸酶抗体(IA-2A)、IL2RA基因rs3118470和rs2104286位点的基因分型等检测结果。采用t检验、χ²检验和Kruskal-Wallis H检验比较T1DM组和健康对照组的一般资料以及各基因型T1DM患者的临床特征。采用logistic回归比较T1DM患者组和对照组之间等位基因及基因型的频率分布,并校正潜在混杂因素(如年龄和性别)。采用单因素logistic回归分析法分析不同模型(显性、隐性、超显性和加性模型)下各位点多态性与T1DM易感性的关联。结果IL2RA rs3118470位点次要等位基因C为T1DM的风险等位基因(P=0.026),在显性遗传和加性遗传模型下,IL2RA rs3118470位点多态性与T1DM易感性相关[OR(95%CI)分别为0.807(0.666~0.978)和0.880(0.783~0.989),均P<0.05],但其不同基因型组间T1DM患者临床特征差异均无统计学意义(均P>0.05)。IL2RA rs2104286位点不同基因型组间T1DM患者ZnT8A阳性率的差异有统计学意义(P=0.035)。结论IL2RA rs3118470位点多态性与中国汉族人群T1DM易感性相关,其次要等位基因C是T1DM的风险等位基因,IL2RA rs2104286位点多态性与患者ZnT8A阳性率有关。Objective To investigate the distribution of single nucleotide polymorphisms of interleukin-2 receptorα(IL2RA)gene in Chinese Han population and its correlation with classical type 1 diabetes(T1DM).Methods A case-control study was conducted in T1DM patients from the First Affiliated Hospital of Nanjing Medical University and Children′s Hospital of Nanjing Medical University and healthy controls in this region from January 2008 to December 2014.The results of medical visits,such as serum C-peptide,zinc transporter 8 antibody(ZnT8A),glutamic acid decarboxylase antibody(GADA),protein tyrosine phosphatase antibody(IA-2A),and the genotyping of rs3118470 and rs2104286 in IL2RA gene were recorded.The t test,χ^(2) test and Kruskal-Wallis H test were used to compare the general information between T1DM patients and healthy controls and the clinical characteristics of different genotypes in T1DM patients.Logistic regression was performed to compare the frequency distributions of the alleles and genotypes between T1DM patients and controls,and the potential confounders(e.g.,age,sex)were adjusted.Univariate logistic regression was used to analyze the association between the polymorphism of IL2RA gene and T1DM susceptibility under different genetic models(dominant,recessive,super dominant and additive models).Results The minor allele C of rs3118470 in IL2RA gene was the risk allele of T1DM(P=0.026).The polymorphisms of rs3118470 in IL2RA gene were associated with T1DM susceptibility under dominant and additive genetic models[OR(95%CI)were 0.807(0.666-0.978)and 0.880(0.783-0.989),respectively,both P<0.05],but the clinical characteristics of T1DM patients were not statistically significantly different between different genotype groups(all P>0.05).There was a statistically significant difference in the positive rate of ZnT8A in T1DM patients among different genotypes of rs2104286 in IL2RA gene(P=0.035).Conclusions The polymorphisms of rs3118470 in IL2RA gene were significantly associated with the susceptibility of T1DM in Ch

关 键 词：糖尿病 1型 IL2RA基因 多态性 单核苷酸 

分 类 号：R587.1[医药卫生—内分泌]