From SNPedia
| Geno
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Mag
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Summary
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| (A;A)
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slightly increased risk for several autoimmune diseases
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| (A;T)
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slightly increased risk for several autoimmune diseases
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| (T;T)
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normal
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| ? | (A;A) (A;T) (T;T) | 28 |
|---|
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is a SNP in the
NLRP1 gene, which encodes the NACHT leucine-rich-repeat protein 1. SNPs in this gene may be involved in higher risk for several autoimmune diseases.
In a study investigating large patient cohorts from six different autoimmune diseases, including autoimmune Addison's disease (n=333 patients), type-1 diabetes (n=1086), multiple sclerosis (n=502), rheumatoid arthritis (n=945), systemic lupus erythematosus (n=156) and juvenile idiopathic arthritis (n=505), plus 3273 healthy controls, the rs12150220(A) allele was associated with higher risk for both autoimmune Addison's disease (odds ratio 1.25, CI: 1.06-1.49, p = 0.007) and type-1 diabetes (odds ratio 1.15, CI: 1.04-1.27, p = 0.005).[PMID 18946481]
| OMIM | 606636 |
| Desc | NLR FAMILY, PYRIN DOMAIN-CONTAINING 1; NLRP1 |
| Variant | |
| Related | also |
[PMID 20152874] A coding variant in NLRP1is associated with autoimmune Addison;s disease
[PMID 21245836] The Missense Variation Q705K in CIAS1/NALP3/NLRP3 Gene and an NLRP1 Haplotype Are Associated With Celiac Disease
