The human GIMAP5 gene has a common polyadenylation polymorphism increasing risk to systemic lupus erythematosus.

ABSTRACT:

Background

Several members of the GIMAP gene family have been suggested as being involved in different aspects of the immune system in different species. Recently, a mutation in the GIMAP5 gene was shown to cause lymphopenia in a rat model of autoimmune insulin-dependent diabetes. Thus it was hypothesised that genetic variation in GIMAP5 may be involved in susceptibility to other autoimmune disorders where lymphopenia is a key feature, such as systemic lupus erythematosus (SLE).

Material and methods

To investigate this, seven single nucleotide polymorphisms in GIMAP5 were analysed in five independent sets of family-based SLE collections, containing more than 2000 samples.

Result

A significant increase in SLE risk associated with the most common GIMAP5 haplotype was fo

SUBMITTER: Hellquist A 

PROVIDER: S-EPMC2597989 | biostudies-literature | 2007 May

REPOSITORIES: biostudies-literature