Abstract
BackgroundAt least twenty genes/loci were shown to be associated with type 2diabetes in European original populations. Five of these genes were shown to be associated with type 2 diabetes (T2D) in Chinese populations. The purpose of this study was to replicate the association of genetic vairants in the eight diabetes-related genes/loci with type 2 diabetes in a Han Chinese cohort from western part of China. Nineteen single nucleotide polymorphisms (SNPs) from the eight genes/loci including TCF7L2, HHEX, CDKAL1, SLC30A8, PPARG, IGF2BP2, KCNJ11, and CDKN2A/CDKN2B were genotyped in 1,529 cases and 1,439 controls in a Han Chinese population using the ABI SNaPshot method. The meta-analysis of the association between rs7903146 in TCF7L2 gene and T2D in the Han Chinese was performed.ResultsAmong the eight genes/loci examined, we found that four were significantly associated with T2D. Although previous studies showed that the association between the SNP rs7903146 in the TCF7L2 gene and T2D was controversial within the Han Chinese population, we have confirmed the significant association between the SNP rs7903146 in the TCF7L2 gene and T2D in both this study and the meta-analysis in the population. In addition, we also confirmed that three SNPs (rs1111875, rs7923837 and rs5015480) in HHEX , one SNP (rs10946398) in CDKAL1, and three SNPs (rs13266634, rs3802177 and rs11558471) in SLC30A8 were significantly associated with T2D in the population being studied.ConclusionsWe demonstrated that the variants in TCF7L2, CDKAL1, HHEX, and SLC30A8 genes are associated with T2D in a Han Chinese population.
Highlights
At least twenty genes/loci were shown to be associated with type 2diabetes in European original populations
Linkage disequilibrium (LD) analysis of single nucleotide polymorphisms (SNPs) genotyped for each gene/locus demonstrated that SNPs in SCL30A8 and Peroxisome proliferator-activated receptor gamma (PPARG) genes, but not in other genes, were at the same LD, respectively (Table 3).Three SNPs in the SCL30A8 gene were at the same LD with D' of 0.95 to 0.99, but they were not completely at the same LD because the r2 was less than 0.8 from 0.55 to 0.67
No association with type 2 diabetes (T2D) was found in the typed SNPs in the four potential T2D genes/loci, including PPARG, IGF2BP2, KCNJL1, and CDKN2A/B (Table 3)
Summary
At least twenty genes/loci were shown to be associated with type 2diabetes in European original populations. The purpose of this study was to replicate the association of genetic vairants in the eight diabetes-related genes/loci with type 2 diabetes in a Han Chinese cohort from western part of China. Nineteen single nucleotide polymorphisms (SNPs) from the eight genes/loci including TCF7L2, HHEX, CDKAL1, SLC30A8, PPARG, IGF2BP2, KCNJ11, and CDKN2A/CDKN2B were genotyped in 1,529 cases and 1,439 controls in a Han Chinese population using the ABI SNaPshot method. Among the T2D genes/loci, single nucleotide polymorphisms (SNPs) in CDKAL1, CDKN2A/B, IGF2BP2, SLC30A8, and HHEX/IDE genes were shown to have an association with T2D in two Chinese cohorts [20,21,22,23]. We examined the associations of nineteen SNPs in eight T2D genes/loci in a Han Chinese population in western part of China
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