| Geno
|
Mag
|
Summary
|
| (A;A)
|
1.3
|
Higher risk for scleroderma
|
| (A;G)
|
1.2
|
2x higher risk for scleroderma
|
| (G;G)
|
0
|
normal/common
|
rs35677470, also known as R206C, is a missense SNP in the deoxyribonuclease I-like 3 [DNASEIL3] gene on chromosome 3.
A study of ~500 Australian patients with scleroderma concluded that the rarer rs35677470(A) allele was associated with higher risk for anti-centromere antibody (ACA) positive cases (odds ratio 2.36, p=2.3x10e-10). There was no risk associated with ACA-negative scleroderma.[PMID 25332064
]
[PMID 33455918] Arg206Cys substitution in DNASE1L3 causes a defect in DNASE1L3 protein secretion that confers risk of systemic lupus erythematosus.
]
