Lupus

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:

• FCGR3A
• rs403016

• IRF5 on chr 7q32.1
  • rs2004640
  • rs77571059, a 5bp CGGGG indel upstream of IRF5/TNPO3, said to be causative and to explain the previously reported associations with rs2004640, rs10954213, and rs729302

• STAT4
  • rs10181656 or the tightly linked rs7582694

• TYK2 on chr 19
  • rs2304256

• CRP
  • rs1205
  • rs3093061

• MECP2 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 in the IL2/IL21 gene region, ch 4q27
  • rs907715
  • rs6835457

• SNPs around the TNF gene:
  • rs1800630

• ITPR3
  • rs3748079

• NKX2.5
  • rs3095870

• LY9
  • rs509749

• LILRA2
  • rs2241524

• TBX21 [PMID 20429676]
  • rs4794067 (protective)
  • rs17250932 (protective)