Abstract

India currently has the second largest number of individuals suffering from diabetes across the world. Hence, it is pertinent to explore the genetic variations in Indian populations to comprehend the extent of genetic heterogeneity. We studied the association of gene variations of four candidate genes [SLC30A8 (rs11558471), CDKAL1 (rs94655871), TCF7L2 (rs12255372) and HHEX (rs1111875)] with Type 2 Diabetes (T2D) in the North East Indian population on whom there is very little data available. DNA was extracted from 155 diabetic patients and 100 non-diabetic controls. Genotyping was performed by Polymerase chain reaction-Restriction fragment length polymorphism (PCR-RFLP). Logistic regression analysis was performed to detect the association between genetic variants and type 2 diabetes. The CT genotype of rs9465871 (CDKAL1 gene) showed significant protection against diabetes [OR = 0.39 (0.17–0.91), p = 0.029] as compared to the CC genotype even after adjusting for age, sex and BMI. When analysed under a recessive model, the GG genotype of rs1111875 (HHEX gene) also showed significant protection against diabetes [OR = 0.38 (0.18–0.82), p = 0.014] as compared to the AA+AG genotypes. Both these findings did not remain significant after Bonferroni threshold of p = 0.0041 was applied. There is considerable variation in the pattern of association of these genes with T2D amongst the North East Indian population, when compared to the other ethnically and geographically diverse Indian populations.

中文翻译：

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SLC30A 8，CDKAL 1，TCF7L 2和HHEX基因多态性与印度东北部人口中的2型糖尿病的关联。

摘要

印度目前是全世界患糖尿病的第二大个人。因此，有必要探讨印度人口的遗传变异以了解遗传异质性的程度。我们研究了四个候选基因[ SLC30A 8（rs11558471），CDKAL 1（rs94655871），TCF7L 2（rs12255372）和HHEX（rs1111875）]在东北印度人口中患有2型糖尿病（T2D）的人，其可用数据很少。从155位糖尿病患者和100位非糖尿病对照中提取DNA。通过聚合酶链反应-限制性片段长度多态性（PCR-RFLP）进行基因分型。进行逻辑回归分析以检测遗传变异与2型糖尿病之间的关联。与CC基因型相比，rs9465871（CDKAL 1基因）的CT基因型显示出显着的抗糖尿病能力[OR = 0.39（0.17–0.91），p = 0.029]，即使在调整了年龄，性别和BMI之后也是如此。在隐性模型下进行分析时，rs1111875（HHEX基因）的GG基因型也显示出对糖尿病的显着保护作用[OR = 0.38（0.18–0.82），p与AA + AG基因型相比= 0.014]。在应用Bonferroni阈值p = 0.0041后，这两个发现均不显着。与其他种族和地理上不同的印度人口相比，东北印度人口中这些基因与T2D的关联模式存在很大差异。