Low-frequency intermediate penetrance variants in the ROCK1 gene predispose to Tetralogy of Fallot.

ABSTRACT:

Background

Epidemiological studies indicate a substantial excess familial recurrence of non-syndromic Tetralogy of Fallot (TOF), implicating genetic factors that remain largely unknown. The Rho induced kinase 1 gene (ROCK1) is a key component of the planar cell polarity signalling pathway, which plays an important role in normal cardiac development. The aim of this study was to investigate the role of genetic variation in ROCK1 on the risk of TOF.

Results

ROCK1 was sequenced in a discovery cohort of 93 non-syndromic TOF probands to identify rare variants. TagSNPs were selected to capture commoner variation in ROCK1. Novel variants and TagSNPs were genotyped in a discovery cohort of 458 TOF cases and 1331 healthy controls, and positive findings were replicated in a further 20

SUBMITTER: Palomino Doza J 

PROVIDER: S-EPMC3734041 | biostudies-literature | 2013 Jun

REPOSITORIES: biostudies-literature