Send to

Choose Destination
See comment in PubMed Commons below
J Intern Med. 2009 Jun;265(6):680-8. doi: 10.1111/j.1365-2796.2009.02096.x.

Review of recent genome-wide association scans in lupus.

Author information

  • 1Immunology Diagnostics Department, Genentech Inc., South San Francisco, CA 94080-4990, USA.


We review the systemic lupus erythematosus (SLE) human genetics literature, including the first wave of genome-wide associations scans (GWAS), to identify confirmed and candidate risk variants that meet stringent statistical criteria. The understanding of the genetic basis of SLE in humans has expanded dramatically over the past year, offering an early glimpse into the primary genetic factors and major dysregulated pathways. A meta-analysis of published candidate variants was performed incorporating data from a 1310 case and 7859 control GWAS. Our review of the literature and meta-analysis identifies a total of 17 well-validated common SLE risk variants, including four candidate variants that achieve our definition of a confirmed SLE risk locus. These variants account for a fraction of the total genetic contribution to SLE risk, with many risk loci remaining to be identified, but may provide insight into the pathways involved in SLE. Initial pathway analyses of the 17 confirmed SLE risk alleles indicate an important role for B-cell signalling and development, signaling through toll-like receptors 7 and 9, and neutrophil function.

[PubMed - indexed for MEDLINE]
Free full text
PubMed Commons home

PubMed Commons

How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Wiley
    Loading ...
    Write to the Help Desk