KCNQ1、SRR基因多态性与维吾尔族及汉族2型糖尿病的相关性研究  

Association analysis between genetic polymorphisms of KCNQ1 and SRR genes with type 2 diabetes mellitus in the Uygur and Han population

作　　者：李寅辉[1] 张婷婷[1] 刘浩 LI Yinhui;ZHANG Tingting;LIU Hao(Department of Endocrinology,Traditional Chinese Medicine Hospital Affiliated to Xinjiang Medical University,Urumqi 830000,Chin)

机构地区：[1]新疆医科大学附属中医医院内分泌科,乌鲁木齐830000 [2]广东省第二人民医院中医科

出　　处：《中国糖尿病杂志》2018年第7期534-542,共9页Chinese Journal of Diabetes

基　　金：国家自然科学基金(81160479)

摘　　要：目的 探讨KCNQ1基因rs231362,rs2237892位点,SRR基因rs391300位点基因多态性与维吾尔族、汉族T2DM的相关性。方法 选取T2DM患者577例作为病例组,其中维吾尔族284例,汉族293例。从人类基因组单体型图中选取正常对照组307名,其中维吾尔族99名,汉族208名。用Hardy-Weinberg平衡检验样本群体代表性,采用imLDRTM多重SNP分型技术检测KCNQ1基因rs231362、rs2237892位点,SRR基因rs391300位点的基因多态性。结果 维吾尔族病例组KCNQ1基因rs231362位点A等位基因频率低于对照组[OR(95%CI)0.34(0.25~0.48),P<0.001];KCNQ1基因rs2237892位点T等位基因频率高于对照组[OR(95%CI)2.00(1.12~3.56),P<0.05];KCNQ1基因rs2237892位点在维吾尔族女性病例组T等位基因频率高于对照组[OR(95%CI)2.59(1.13~5.93),P<0.05];维吾尔族男性病例组SRR基因rs391300位点T等位基因频率低于对照组[OR(95%CI)0.59(0.36~0.96),P<0.05]。结论 在新疆维吾尔族人群中,初步观察到KCNQ1基因rs231362位点A等位基因可能是发生T2DM的保护因子,KCNQ1基因rs2237892位点T等位基因可能是发生T2DM的易感因子,对于维吾尔族女性亦如此;SRR基因rs391300位点T等位基因可能是维吾尔族男性的保护因子。Objective To investigate the association between rs231362,rs2237892 in KCNQ1 gene,rs391300 in SRR gene and type 2 diabetes mellitus（T2 DM）in Uygur and Han population. Methods A total of 577 patients with T2 DM were enrolled in this study as case group,including 284 Uygur subjects and 293 Han subjects.And 307 healthy subjects were selected as control group,including 99 Uygur subjects and 208 Han subjects.Hardy-Weinberg equilibrium analyze was performed for each single nucleotide polymorphism（SNP）to detect the sample representation.Genotypes of rs231362,rs2237892 in KCNQ1 gene,rs391300 in SRR gene were tested by imLDRTM multiple SNP typing method. Results In the Uygur population,the frequency of allele A of rs231362 in KCNQ1 gene was lower in case group than in control group [OR（95%CI）0.34（0.25～0.48）,P〈0.001].The frequency of allele T of rs2237892 in KCNQ1 gene was higher in case group than in control group [OR（95%CI）2.00（1.12～3.56）,P〈0.05].The frequency of allele T of rs2237892 in KCNQ1 gene was higher in female case group than in female control group [OR（95%CI）2.59（1.13～5.93）,P〈0.05].The frequency of allele T of rs391300 in SRR gene was lower in male case group than in male control group[OR（95%CI）0.59（0.36～0.96）,P〈0.05]. Conclusion In the Uygur population in Xinjiang province,A allele of the rs231362 in KCNQ1 gene may be a protective factor for T2 DM;T allele of the rs2237892 in KCNQ1 gene may be a risk factor for T2 DM in the whole Uygur population as well as in female Uygur population in Xinjiang province.T allele of the rs391300 in SRR gene may be a protective factor for T2 DM in male Uygur population.

关 键 词：KCNQ1 SRR 多态性 糖尿病 2型 

分 类 号：R587.1[医药卫生—内分泌]