Novel identification of the IRF7 region as an anticentromere autoantibody propensity locus in systemic sclerosis.

ABSTRACT:

Objective

Systemic sclerosis (SSc) and systemic lupus erythematosus (SLE) are related chronic autoimmune diseases of complex aetiology in which the interferon (IFN) pathway plays a key role. Recent studies have reported an association between IRF7 and SLE which confers a risk to autoantibody production. A study was undertaken to investigate whether the IRF7 genomic region is also involved in susceptibility to SSc and the main clinical features.

Methods

Two case-control sets of Caucasian origin from the USA and Spain, comprising a total of 2316 cases of SSc and 2347 healthy controls, were included in the study. Five single nucleotide polymorphisms (SNPs) in the PHRF1-IRF7-CDHR5 locus were genotyped using TaqMan allelic discrimination technology. A meta-analysis was performed

SUBMITTER: Carmona FD 

PROVIDER: S-EPMC3369428 | biostudies-literature | 2012 Jan

REPOSITORIES: biostudies-literature