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Lupus

From SNPedia

Systemic lupus erythematosus (SLE) is a complex autoimmune disease. Wikipedia The most studied genetic contributions to SLE involve the major histocompatibility complex (MHC) region on chromosome 6, which contains over 100 genes involved in immune system function.

In the MHC, one allele in the class II region, and one SNP in the class III region, have been associated with risk of developing lupus. [PMID 17997607]

  • The HLA-DRB1*0301 allele from the class II region (see rs2187668)
  • rs419788 in the intron of the class III SKIV2L gene

SNPs in genes outside the MHC region may also affect the risk of developing lupus:

  • A region on chromosome 8p23.1, upstream of the BLK gene