Allelic expression analysis of the osteoarthritis susceptibility locus that maps to MICAL3.

ABSTRACT:

Background

A genome-wide association scan with subsequent replication study that involved over 67,000 individuals of European ancestry has produced evidence of association of single nucleotide polymorphism rs2277831 to primary osteoarthritis (OA) with a P-value of 2.9 × 10(-5). rs2277831, an A/G transition, is located in an intron of MICAL3. This gene is located on chromosome 22q11.21 and the association signal encompasses two additional genes, BCL2L13 and BID. It is becoming increasingly apparent that many common complex traits are mediated by cis-acting regulatory polymorphisms that influence, in a tissue-specific manner, gene expression or transcript stability.

Methods

We used total and allelic expression analysis to assess whether the OA association to rs2277831 is media

SUBMITTER: Ratnayake M 

PROVIDER: S-EPMC3366887 | biostudies-literature | 2012 Mar

REPOSITORIES: biostudies-literature