Functional analysis of TCF7L2 genetic variants associated with type 2 diabetes.

ABSTRACT:

Background and aims

Common non-coding variations within the TCF7L2 locus have a strong influence on type 2 diabetes (T2D) susceptibility through uncharacterised mechanisms. An islet-specific functional polymorphism has been identified, although this does not explain the association between genotype and gene expression in other cell types. This study sought to identify these other functional TCF7L2 variants.

Methods and results

Alternative splicing and gene expression from TCF7L2 was examined from peripheral blood mononuclear cells from 100 healthy Caucasians using two T2D-associated SNPs, rs7903146 and rs12255372. Electrophoretic mobility shift assays and luciferase reporter assays were performed with these SNPs and those in strong LD to determine potential SNP functionality

SUBMITTER: Pang DX 

PROVIDER: S-EPMC3778915 | biostudies-literature | 2013 Jun

REPOSITORIES: biostudies-literature