Multiple functional polymorphisms in the G6PC2 gene contribute to the association with higher fasting plasma glucose levels.

ABSTRACT:

Aims/hypothesis

We previously identified the G6PC2 locus as a strong determinant of fasting plasma glucose (FPG) and showed that a common G6PC2 intronic single nucleotide polymorphism (SNP) (rs560887) and two common G6PC2 promoter SNPs (rs573225 and rs13431652) are highly associated with FPG. However, these promoter SNPs have complex effects on G6PC2 fusion gene expression, and our data suggested that only rs13431652 is a potentially causative SNP. Here we examine the effect of rs560887 on G6PC2 pre-mRNA splicing and the contribution of an additional common G6PC2 promoter SNP, rs2232316, to the association signal.

Methods

Minigene analyses were used to characterise the effect of rs560887 on G6PC2 pre-mRNA splicing. Fusion gene and gel retardation analyses characterised the e

SUBMITTER: Baerenwald DA 

PROVIDER: S-EPMC4106008 | biostudies-literature | 2013 Jun

REPOSITORIES: biostudies-literature