rs2986017, also known as L86P, is a SNP in the CALHM1 gene. This gene encodes a multipass transmembrane glycoprotein that is involved in the control of cytosolic calcium concentrations and cerebral amyloid-Î² levels.
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: 1.27â€“1.59, p = 2x10eâˆ’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
[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
[PMID 20634593] Validating predicted biological effects of Alzheimer's disease associated SNPs using CSF biomarker levels
[PMID 21629967] CALHM1 P86L polymorphism modulates CSF A? levels in cognitively healthy individuals at risk for Alzheimer's disease
[PMID 19070563] No association between CALHM1 and Alzheimer's disease risk.
[PMID 19191331] No association between CALHM1 variation and risk of Alzheimer disease.
[PMID 20061624] CALHM1 P86L polymorphism is a risk factor for Alzheimer's disease in the Chinese population.
[PMID 20574532] Intermediate phenotypes identify divergent pathways to Alzheimer's disease.
[PMID 21378601] No association between CALHM1 polymorphism and Alzheimer's disease risk in a Hungarian population.
[PMID 21439911] A polymorphism in CALHM1 is associated with temporal lobe epilepsy.
[PMID 24326043] No association between polymorphisms in the calcium homeostasis modulator 1 gene and mesial temporal lobe epilepsy risk in a Chinese population
[PMID 22874670] Genetic variability of the gene cluster CALHM 1-3 in sporadic Creutzfeldt-Jakob disease.