Genetic variation at the human connexin 43 locus but not at the connexin 40 locus is associated with left bundle branch block.

ABSTRACT:

Background

Bundle branch block (BBB) has been regarded as a disease of the conduction system, but occurs in mice lacking connexin 40 (expressed in atria, proximal conduction system) or connexin 43 (expressed in Purkinje cells, cardiomyocytes).

Objective

The aim of this paper is to explore whether BBB is heritable, and whether polymorphisms at connexin 40 and connexin 43 loci are associated with BBB.

Methods

To assess BBB heritability, we screened descendants of men with BBB in the population cohort 'The Study of Men Born 1913'. DNA samples from 80-year-old men with extreme QRS-duration phenotypes were used to search for polymorphisms at connexin 40 and 43 loci. Associations between identified polymorphisms and BBB were evaluated in an independent cohort (INTERGENE).

SUBMITTER: Ladenvall P 

PROVIDER: S-EPMC4395834 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature