A case-control association study of K121Q (rs 1044498) and G/T (rs 1225572) variants in ENPP1 and TCF7L2 genes with type 2 diabetes mellitus in north Indian Punjabi population

作者：Badaruddoza Badaruddoza^*; Barna Basanti; Matharoo Kawaljit; Bhanwer A J S

来源：International Journal of Diabetes in Developing Countries, 2015, 35(4): 546-553.

DOI：10.1007/s13410-015-0337-9

• Type 2 diabetes
• ENPP1
• TCF7L2
• North Indian Punjabi population

Recently, the transcription factor-7-like 2 (TCF7L2) and ecto-nucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) genes have been identified to have a significant functional role in determining susceptibility to type 2 diabetes. The purpose of this study was to confirm the reported association between K121Q and G/T polymorphisms of the ENPP1 and TCF7L2 genes, respectively with increased risk of type 2 diabetes mellitus in north Indian Punjabi population. A total of 450 participants consisting of 239 type 2 diabetes mellitus (T2DM) and 211 healthy subjects were recruited for this study. Genotyping was performed by PCR-RFLP method. Anthropometric and physiometric variables such as height, weight, body mass index (BMI), waist to hip ratio (WHR), waist circumference (WC), hip circumference (HC), biceps skinfold, triceps skinfold, SBP, DBP, MBP, pulse rate and pulse pressure were measured using standard protocol. The chi-square analyses were used to test the significant difference in genotype, allele frequencies and Hardy-Weinberg equilibrium deviation. Associations of genotypes with T2DM and its corresponding p values were calculated using logistic regression. The results revealed that anthropometric and clinical characteristics such as WHR, fasting and random glucose levels, SBP, DBP, pulse rate and pulse pressure have significant (p < 0.001) differences between T2DM and control subjects. However, none of the anthropometric and clinical characteristics have found a significant difference with respect to their genotypic distributions for both of genes except DBP for ENPP1 K121Q polymorphism. The distributions of frequencies of Q allele of rs 1044498 (K121Q) and T allele of rs 1225572 (G/T) polymorphism of ENPP1 and TCF7L2 genes were higher in T2DM patient patients but differences were not statistically significant. The association analysis of the present results showed K121Q variant of ENPP1 gene and G/T variant of TCF7L2 gene have a significant association with type 2 diabetes with dominant and recessive model of action, respectively, in north Indian Punjabi populations.

• 出版日期2015-11