Rs2986017
From SNPedia
| is a | snp |
| is | mentioned by |
| dbSNP | rs2986017 |
| hapmap | rs2986017 |
| hgdp | rs2986017 |
| ensembl | rs2986017 |
| gopubmed | rs2986017 |
| scholar | rs2986017 |
| rs2986017 | |
| pharmgkb | rs2986017 |
| hgvbaseg2p | rs2986017 |
| medrefsnp | rs2986017 |
| 23andMe | rs2986017 |
| SNP Nexus |
| Gene | CALHM1 |
| Chromosome | 10 |
| Orientation | plus |
| Position | 105208241 |
| Genotype | Effect |
|---|---|
| rs2986017(C;C) | normal |
| rs2986017(C;T) | no clear risk |
| rs2986017(T;T) | no clear risk |
| Genotypes | Magnitude | Summary |
|---|---|---|
| Rs2986017(C;C) | normal | |
| Rs2986017(C;T) | no clear risk | |
| Rs2986017(T;T) | no clear risk |
In case-control studies of 3,404 participants, the rs2986017(T) allele was significantly associated with late-onset Alzheimer's disease. The allele-specific odds ratio was 1.44 (CI: 1.27–1.59, p = 2x10e−10). [PMID 18585350]
A study of 62 Belgian Alzheimer's disease patients and 519 ethnically matched control individuals found no evidence of association between rs2986017 and risk of disease, nor with onset age.[PMID 19191332]
[PMID 19472444] CALHM1 polymorphism is not associated with late-onset Alzheimer disease
[PMID 19749425] CALHM1 P86L Polymorphism is a Risk Factor for Alzheimer's Disease in the Chinese Population
| PharmGKB | PA161925566 |
| Name | CALHM1: P86L |
| Annotation | This variant increases amyloid-beta levels by interfering with CALHM1-mediated Ca(2+) permeability. The SNP is significantly associated with Alzheimer's disease in independent case-control studies of 3404 participants. |
| Gene | CALHM2, CALHM1 |
| Featue | |
| Evidence | PubMed ID:18585350 |
| Drugs | |
| Diseases | Alzheimer Disease |
| Curation Level | Curated |
[PMID 20164592] CALHM1 P86L Polymorphism is Associated with Late-Onset Alzheimer's Disease in a Recessive Model
[PMID 20164573] Genetic Association Between CALHM1, 2, and 3 Polymorphisms and Alzheimer's Disease in a Japanese Population
