中国人群中WFS1基因变异与早发2型糖尿病相关性的研究  

Association between variation of WFS1gene and early-onset type 2 diabetes mellitus in Chinese population

作　　者：刘婵薇 葛晓旭 李鸣 李甜甜 庄兰艮 张荣 张娟[1] 陈亚婷 蒋伏松 刘丽梅 LIU Chanwei;GE Xiaoxu;LI Ming(Department of Endocrinology and Metabolism,Shanghai Sirth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine,Shanghai 200233,China)

机构地区：[1]上海交通大学医学院附属第六人民医院内分泌代谢科,200233 [2]上海交通大学医学院附属同仁医院内分泌科

出　　处：《中国糖尿病杂志》2024年第7期481-487,共7页Chinese Journal of Diabetes

基　　金：国家自然科学基金(81970686、81770791、81471012、81270876)。

摘　　要：目的 探讨在中国人群中WFS1基因R611H(G/A)即rs734312变异与早发T2DM的相关性。方法 选取2021年1月至2023年12月于上海市第六人民医院内分泌代谢科住院治疗的早发T2DM患者181例(T2DM组),同期选取196名体检健康者为正常对照(NC)组。采用PCR-直接测序法检测rs734312变异,分析比较两组基因型、等位基因频率及临床变量的差异。结果 与NC组比较,T2DM组R611H(G→A)变异位点AA基因型和A等位基因频率升高[AA vs GA+GG(OR 1.720,95%CI 1.100~2.680,P<0.05);A vs G(OR 1.500,95%CI 1.020~2.220,P<0.05)]。亚洲人(中国、日本和韩国)与高加索人(丹麦、英国、西班牙、法国和俄罗斯)之间rs734312基因型和等位基因频率分布差异有统计学意义(P<0.01)。与AA基因型比较,T2DM组GG+GA基因型携带者FIns、2 hIns及HOMA-β升高(P<0.05)。结论 WFS1基因rs734312变异的A等位基因是中国人早发T2DM的危险因素,可能是预测胰岛β细胞功能减退的潜在遗传易感标志。Objective eTo explore the association between R611H(G/A,rs734312)variation of WFS1 gene and early-onset type 2 diabetes mellitus(T2DM).Methods A total of 181 Chinese patients with early-onset T2DM(T2DM group)and 196 non-diabetic controls(NC group)were enrolled in this study.The rs734312 variation was detected by PCR-direct sequencing.Genotypic and allelic frequencies of rs734312 and clinical variables were compared and analyzed between the two groups.F ResultsCompared with the NC group,the frequencies of AA genotype and A allele in R611H(G→A)variation were significantly elevated in the early-onset T2DM group,AA us GA+GG(OR 1.720,95%CI 1.100~2.680,P<0.05).A us G(OR 1.500,95%CI 1.020~2.220,P<0.05).The remarkable differences of frequencies of genotype and allele in rs734312(G/A)were observed between Asians(China,Japan and Korea)and Caucasians(Denmark,Britain,Spain,France and Russia,P<0.O01 for each).Compared with AA genotype,fasting and 2 hours postprandial insulin(FIns and 2 hIns)as well as HOMA-βwere significantly rise in GG+GA genotype carriers of early-onset T2DM group(P<0.05).Conclusions The a allele of rs734312 in WFS1 may be a risk factor for early-onset T2DM in Chinese population,and the variation might be a potential genetic marker for predicting the isletβ-cell dysfunction in early-onset T2DM in Chinese population.

关 键 词：WFS1基因 rs734312变异 糖尿病 2型 早发 

分 类 号：R587.1[医药卫生—内分泌]