Variants in CXCR4 associate with juvenile idiopathic arthritis susceptibility.

ABSTRACT:

Background

Juvenile idiopathic arthritis (JIA) is the most common chronic rheumatic disease among children, the etiology of which involves a strong genetic component, but much of the underlying genetic determinants still remain unknown. Our aim was to identify novel genetic variants that predispose to JIA.

Methods

We performed a genome-wide association study (GWAS) and replication in a total of 1166 JIA cases and 9500 unrelated controls of European ancestry. Correlation of SNP genotype and gene expression was investigated. Then we conducted targeted resequencing of a candidate locus, among a subset of 480 cases and 480 controls. SUM test was performed to evaluate the association of the identified rare functional variants.

Results

The CXCR4 locus on 2q22.1 was found to

SUBMITTER: Finkel TH 

PROVIDER: S-EPMC4804485 | biostudies-literature | 2016 Mar

REPOSITORIES: biostudies-literature