International Consortium on the Genetics of Systemic Lupus Erythematosus (SLEGEN)

The genetic makeup of an individual strongly influences the risk of developing systemic lupus erythematosus (SLE). The identification of genes that predispose an individual to SLE will lead to earlier and better diagnosis, better treatments, and possibly prevention. To this end, the International Consortium on the Genetics of Systemic Lupus Erythematosus (SLEGEN) was formed in 2005 and is composed of lupus researchers who agreed to pool their knowledge and resources to search for genes that predispose to lupus. Eight laboratories contributed DNA samples for genotyping at the Broad Institute and association with SLE was performed by the Data Coordinating Center (Wake Forest University), as part of a four stage study design. Stages one and two of this design were graciously funded by the Alliance for Lupus Research (www.lupusresearch.org). In this stage of the study, approximately 767 SLE patients (cases) were compared to approximately 383 non-SLE patients (controls) for differences among the Illumina HumanHap300. The affected individuals are all females of European decent. 82% of the cases are the index case from multiplex pedigrees for SLE and the remaining 18% have self-reported first degree relatives with SLE. A detailed summary of the methods and results can be found in the manuscript in Nature Genetics February 2008 by SLEGEN "Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants ITGAM, PXK, KIAA1542 and other loci". (Please see also Study Accession: phs000202.v1.p1)]]>
Systemic lupus erythematosus (SLE) is a common systemic autoimmune disease with complex etiology but strong clustering in families. We performed a genome-wide association scan using 317,501 SNPs on the Illumina HumanHap300 genotyped at the Broad Institute. The samples submitted to dbGap represent the admixture trimmed set of 706 female cases and 353 controls on 308,330 SNPs that passed quality control. The number of controls differs from what was published because of the use of 1,964 out of study controls: 1,848 Illumina controls and 116 IBD controls.Study participants were all previously collected as part of multiple studies in several countries. The focus of the samples in the consortium were those that had a first degree relative with verified lupus and were of European American descent.]]>