Abstract

Objectives AQP7 and AQP9 represent glycerol channel in adipose tissue and liver and have been associated with metabolic diseases. We aimed to investigate the associations between genetic variants in AQP7 and AQP9 genes and the risk of type 2 diabetes (T2DM) in Chinese population. Methods Blood samples were drawn from 400 T2DM patients and 400 age- and gender-matched controls. Genomic DNA was extracted by proteinase K digestion and phenol–chloroform extraction. Genotyping of 5 single nucleotide polymorphisms (SNPs) in AQP7 (rs2989924, rs3758269, and rs62542743) and AQP9 (rs57139208, rs16939881) was performed by the polymerase chain reaction assay with TaqMan probes. Results The subjects with rs2989924 GA+AA genotypes had 1.47-fold increased risk of T2DM (odds ratio [OR] 1.47, 95% confidence interval [CI] 1.06-2.04), compared to those with GG genotype, and this association remained significant after adjustment for covariates (OR 1.66, 95% CI 1.07-2.57). When compared with rs3758269 CC genotype, the subjects with CT+TT genotypes had 45% decreased T2DM risk after multivariate adjustment (OR 0.55, 95% CI 0.35-0.85). The associations were evident in elder and overweight subjects and those with central obesity. No association was observed between AQP9 SNPs and T2DM risk. Conclusions AQP7 SNP rs2989924 and rs3758269 were associated with T2DM risk in Chinese Han population.

Highlights

  • The last three decades have witnessed an epidemic rise in the number of people with diabetes, especially type 2 diabetes (T2DM), which accounts for more than 90% of the patients [1, 2]

  • The association between rs3758269 and T2DM risk was evident in elder subjects, overweight subjects, subjects with central obesity, and females. In this population-based case-control study, we investigated 5 single nucleotide polymorphisms (SNPs) in Aquaglyceroporin 7 (AQP7) and AQP9 genes and demonstrated that SNPs rs2989924 and rs3758269 in AQP7 gene were independently associated with the risk of T2DM

  • No association was observed between AQP9 SNPs and T2DM risk

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Summary

Introduction

The last three decades have witnessed an epidemic rise in the number of people with diabetes, especially type 2 diabetes (T2DM), which accounts for more than 90% of the patients [1, 2]. One-third of the people with diabetes live in China, and the overall prevalence of diabetes in Chinese adults almost doubled in a decade [1, 3, 4]. Genome-wide association studies in various ethnic groups including Chinese population have identified more than 80 T2DM susceptibility loci, such as genetic variants in TCF7L2 gene [6,7,8,9,10], these susceptibility loci identified so far can only explain around 10% of the heritability [2, 7, 10].

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