A common connexin-40 gene promoter variant affects connexin-40 expression in human atria and is associated with atrial fibrillation.

ABSTRACT:

Background

A common single-nucleotide polymorphism (SNP) in the promoter of the Connexin-40 (Cx40) gene GJA5 was suggested to affect Cx40 promoter activity and the risk of atrial fibrillation (AF), but the role of other common Cx40 polymorphisms is unknown.

Methods and results

Eight SNPs within the Cx40 gene region were tested for association with Cx40 levels measured in atrial tissue from 61 individuals. The previously described Cx40 promoter SNP (rs35594137, -44G→A) was not associated with Cx40 mRNA levels. However, a common SNP (rs10465885) located in the TATA box of an alternative Cx40 promoter was strongly associated with Cx40 mRNA expression (P<0.0001) and displayed strong and consistent allelic expression imbalance in human atrial tissue. A promoter-luciferase assay i

SUBMITTER: Wirka RC 

PROVIDER: S-EPMC3057452 | biostudies-literature | 2011 Feb

REPOSITORIES: biostudies-literature