Rs3748079

rs3748079 is a SNP in the promoter region of the ITPR3 gene; it is also known as -1990C>T.

rs3748079 has been linked to increased risk for systemic lupus erythematosus (SLE) in two independent Japanese case-control samples (p=0.0000000178 with odds ratio of 1.88, CI:1.51-2.35). Individuals with risk genotypes of both rs3748079 and rs3095870, in the ITPR3 and NKX2.5 genes, respectively, have even high risk for SLE (odds ratio 5.77).

This particular SNP also revealed associations with rheumatoid arthritis (RA) (p=0.0084 with odds ratio of 1.23, CI:1.05-1.43) and with Graves' disease (GD) (p=0.00036 with odds ratio of 1.57, CI:1.22-2.02).

Note that the orientation of this SNP as published is reversed compared to the dbSNP entry.


 * is_associated_with_disease::Rheumatoid arthritis
 * is_associated_with_disease::Systemic lupus erythematosus