Identification of Genetic Variants of Gestational Diabetes in South Indians
Identification of Genetic Variants of Gestational Diabetes in South Indians
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DOI：
10.1089/dia.2014.0349
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发表时间：
2015-07-01
影响因子：
5.4
通讯作者：
Radha, Venkatesan
中科院分区：
文献类型：
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作者：
Kanthimathi, Sekar;Chidambaram, Manickam;Radha, Venkatesan
背景：本研究调查了南印度人群与妊娠期糖尿病（GDM） 2型糖尿病风险变异的关系，这些变异先前在其他人群中赋予了GDM的易感性。研究对象和方法：研究组包括518名GDM妇女和910名糖耐量正常的孕妇。从印度南部金奈的一家三级糖尿病中心招募了患有GDM的妇女，从金奈的产前诊所招募了患有NGT的妇女。采用苯酚-氯仿法从全血中分离基因组DNA。使用MassARRAY系统（Sequenom, San Diego， CA）对先前报道的9个位点或附近的12个gdm相关单核苷酸多态性（snp）进行基因分型。结果：在12个基因分型的snp中，有11个snp符合Hardy-Weinberg平衡，召唤率为95%。在先前其他人群中与GDM相关的11个snp中，仅在该人群中观察到与CDK5调控亚基相关蛋白1-样1 （CDKAL1）基因的rs7754840和rs7756992 snp有显著关联。SNPs rs7754840和rs7756992的次要等位基因对GDM的易感性显著，比值比分别为1.34（95%可信区间1.12 ~ 1.60，P=0.0013）和1.45（95%可信区间1.21 ~ 1.72，P=0.00004）。结论：在南印度人群中发现CDKAL1基因的rs7754840和rs7756992 snp与GDM相关。这是第一个描述亚洲印度人GDM遗传易感性的研究。
Background: This study examined the association in a South Indian population with gestational diabetes mellitus (GDM) of type 2 diabetes risk variants that have previously conferred susceptibility to GDM in other populations. Subjects and Methods: The study groups comprised 518 women with GDM and 910 pregnant women with normal glucose tolerance (NGT). Women with GDM were recruited from a tertiary diabetes center in Chennai, in south India, and NGT women were selected from antenatal clinics also in Chennai. Genomic DNA was isolated from whole blood using the phenol chloroform method. Twelve previously reported GDM-associated single nucleotide polymorphisms (SNPs) in or near nine loci were genotyped using the MassARRAY system (Sequenom, San Diego, CA). Results: Among the 12 SNPs genotyped, 11 SNPs were in Hardy-Weinberg equilibrium and had a call rate of >95%. Of the 11 SNPs previously associated with GDM in other populations, significant association was observed only with the rs7754840 and rs7756992 SNPs of the CDK5 regulatory subunit associated protein 1-like 1 (CDKAL1) gene in this population. The minor alleles of the SNPs rs7754840 and rs7756992 showed significant susceptibility to GDM with an odds ratio of 1.34 (95% confidence interval, 1.12-1.60; P=0.0013) and 1.45 (95% confidence interval, 1.21-1.72; P=0.00004), respectively. Conclusions: The rs7754840 and rs7756992 SNPs of the CDKAL1 gene were found to be associated with GDM in this south Indian population. This is the first study describing genetic susceptibility of GDM in Asian Indians.