| Geno
|
Mag
|
Summary
|
| (A;A)
|
|
normal risk
|
| (A;G)
|
0.1
|
1.7x increased risk for SLE (lupus)
|
| (G;G)
|
0.1
|
1.7x increased risk for SLE (lupus)
|
rs3095870 is a SNP in the promoter region of the NKX2.5 gene; it is also known as -1192C>T.
rs3095870 has been linked to increased risk for systemic lupus erythematosus (SLE) in two independent Japanese case-control samples (p=0.0037 with odds ratio of 1.74, CI:1.19-2.55). 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, CI: 3.17-10.1).[PMID 18219441]
Note that the orientation of this SNP as published is reversed compared to the dbSNP entry.
[PMID 29342503
] The molecular basis for dysregulated activation of NKX2-5 in vascular remodelling of systemic sclerosis.
] The molecular basis for dysregulated activation of NKX2-5 in vascular remodelling of systemic sclerosis.
