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Jan 21, 2008

Large Genomic Study Identifies Multiple SNPs Linked to Lupus

  • The International Systemic Lupus Erythematosus Genetics (SLEGEN) Consortium say that they identified a number of genes involved in lupus. The variations may be linked to as many as 67% of all lupus cases in women, the investigators report.

    The researchers scanned the entire genome of 720 women of European descent with systemic lupus erythematosus  (SLE) and 2,337 women without SLE for more than 317,000 SNPs. They then confirmed their results by comparing another set of genetic data for 1,846 women with lupus and 1,825 women without.

    The scientists report the strongest associations with SLE in three genes: ITGAM, PXK, and KIAA1542 as well as  at SNP rs10798269, which is not within any known gene. ITGAM is important for the adherence of immune cells and for cleaning up pathogens. KIAA1542 is involved in translating the DNA code into proteins. PXK encodes a molecule that transmits signals and controls complex processes in cells.

    “We also found evidence for association at FCGR2A, PTPN22, and STAT4, regions previously associated with SLE and other autoimmune diseases, as well as at nine other loci,” the researchers wrote.

    The SLEGEN scientists involved in the research were from the Oklahoma Medical Research Foundation, the U.S. Department of Veterans Affairs Medical Center, University of Oklahoma Health Sciences Center, University of Uppsala, University of California, San Francisco, University of Southern California, University of Alabama at Birmingham, University of Minnesota, University of California, LA, Imperial College London, Wake Forest University, Broad Institute, Feinstein Institute for Medical Research, Genentech, Université de Montréal, Medical University of South Carolina, University of California, Davis, and University of Texas Southwestern Medical School. Other non-SLEGEN ivnestiators were also invovled.

    The study was published on Janaury 20 in Nature Genetics.



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