Lupus

From SNPedia

Lupus, more technically known as systemic lupus erythematosus and often abbreviated as SLE, is a complex autoimmune disease. 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 for developing lupus [PMID 17997607]:

• The HLA-DRB1*0301 allele from the class II region - see rs2187668; and,
• rs419788, a SNP in the intron of the class III SKIV2L gene

SNPs outside of the MHC region that have been reported to affect the risk of developing lupus include:

• rs403016, a SNP in the FCGR3A gene

• SNPs in the IFR5 gene in chr 7q32.1:
  • rs2004640
  • A 5bp CGGGG indel upstream of IFR5/TNPO3, said to be causative and to explain the previously reported associations with rs2004640, rs10954213 and rs729302

• SNPs in the STAT4 gene
  • rs10181656 or the tightly linked rs7582694

• A SNP in the TYK2 gene on chr 19:
  • rs2304256

• SNPs in the CRP gene:
  • rs1205
  • rs3093061

• Several SNPs in the MECP2 gene on the X chromosome:
  • rs17435
  • rs1734787
  • rs1734791
  • rs1734792

• A region on chromosome 8p23.1, upstream of the BLK gene:
  • rs13277113

• A region on chromosome 16p11.22, near the ITGAM and ITGAX genes:
  • rs11574637
  • rs1143679

• SNPs associated with the BANK1 gene on chr 4:
  • rs10516487
  • rs17266594
  • rs3733197

• SNPs around the TNF gene:
  • rs1800630

• A SNP in the ITPR3 gene:
  • rs3748079

• A SNP in the NKX2.5 gene:
  • rs3095870

• A SNP in the LY9 gene:
  • rs509749

• A SNP in the LILRA2 gene:
  • rs2241524