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

作者: D. A. Baerenwald , , A. Bonnefond , N. Bouatia-Naji , B. P. Flemming

DOI: 10.1007/S00125-013-2875-3

关键词:

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

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