Rs3748079

From SNPedia

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).[PMID 18219441]

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).[PMID 18219441]

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

?	(A;A) (A;G) (G;G)