Polymerase chain reaction (PCR)- restriction fragment length polymorphism analysis and allelic specific PCR were employed for examining the TCF7L2 gene rs12255372 (G>T) and rs290487 (C>T), and rs7901695 (T>C) polymorphisms, respectively, in 109 healthy individuals and 111 subjects with T2DM who were of Chinese Hui descent and lived in the Ningxia Hui Autonomous Region of China.
The rs290487 C allele showed no significant overall association with T2DM, yielding ORs of 1.08 (0.88, 1.32) under a dominant model, with strong evidence of heterogeneity.
The CC genotype and the recessive model of the variant rs290487 (IVS3C/T) and CC haplotype of rs7903146 (IVS3C/T) and rs290487 (IVS3C/T) in TCF7L2 may be associated with T2DM in Han Chinese people in Henan province, China.
There was no evidence that rs12255372G/T and rs290487T/C polymorphisms increased T2DM risk (T vs. G, OR = 1.77, 95% CI = 0.88-3.56; C vs. T, OR = 1.08, 95% CI = 0.93-1.25).
The association of rs290487 with T2DM was affected by body mass index, whereas the association of rs7903146 and rs290487 with T2DM was influenced neither by age nor by sex.
Association analyses, which were carried out using the case-control sample set, yielded a significant association between rs290487 and T2D, with a trend opposite to that described in a previous report.
We analyzed single nucleotide polymorphisms (SNPs) rs11196218 and rs290487 of the TCF7L2 gene, which showed robust associations with T2D in Chinese population, in 430 PCOS patients and 360 control subjects by pyrosequencing, and also assessed the effect of genotype on clinical and biochemical traits in the PCOS group.
Novel risk loci for type 2 diabetes, single nucleotide polymorphism (SNP) rs7756992 in cyclin-dependent kinase 5 (CDK5) regulatory subunit associated protein 1-like 1 (CDKAL1), rs290487 and rs11196218 in transcription factor 7-like 2 (TCF7L2), were recently identified.
In a meta-analysis, the rs290487 C allele was confirmed to be associated with an increased risk of T2D (odds ratio, 1.11; 95% confidence interval, 1.03-1.19; P = 0.005) across East Asian populations.
Comparison between allele and genotype frequencies of these SNPs in patients and controls showed marginal association for rs7903146 and rs290487 with type 2 diabetes (p = 0.063, OR 1.982, 95% CI 1.128-3.485; p = 0.071, OR 1.237, 95% CI 0.983-1.557, respectively).
SNP rs290487 located in an LD block close to the 3' end of the gene was associated with typ</span>e 2 diabetes (allele-specific P = 0.0021; permuted P = 0.03).