Identification of MAMDC1 as a candidate susceptibility gene for systemic lupus erythematosus (SLE).

ABSTRACT:

Background

Systemic lupus erythematosus (SLE) is a complex autoimmune disorder with multiple susceptibility genes. We have previously reported suggestive linkage to the chromosomal region 14q21-q23 in Finnish SLE families.

Principal findings

Genetic fine mapping of this region in the same family material, together with a large collection of parent affected trios from UK and two independent case-control cohorts from Finland and Sweden, indicated that a novel uncharacterized gene, MAMDC1 (MAM domain containing glycosylphosphatidylinositol anchor 2, also known as MDGA2, MIM 611128), represents a putative susceptibility gene for SLE. In a combined analysis of the whole dataset, significant evidence of association was detected for the MAMDC1 intronic single nucleotide polymorphis

SUBMITTER: Hellquist A 

PROVIDER: S-EPMC2785483 | biostudies-literature | 2009 Dec

REPOSITORIES: biostudies-literature