Three functional variants of IFN regulatory factor 5 (IRF5) define risk and protective haplotypes for human lupus.

ABSTRACT: Systematic genome-wide studies to map genomic regions associated with human diseases are becoming more practical. Increasingly, efforts will be focused on the identification of the specific functional variants responsible for the disease. The challenges of identifying causal variants include the need for complete ascertainment of genetic variants and the need to consider the possibility of multiple causal alleles. We recently reported that risk of systemic lupus erythematosus (SLE) is strongly associated with a common SNP in IFN regulatory factor 5 (IRF5), and that this variant altered spicing in a way that might provide a functional explanation for the reproducible association to SLE risk. Here, by resequencing and genotyping in patients with SLE, we find evidence for three functional all

SUBMITTER: Graham RR 

PROVIDER: S-EPMC1847749 | biostudies-literature | 2007 Apr

REPOSITORIES: biostudies-literature