CALHM1 P86L polymorphism modulates CSF Aβ levels in cognitively healthy individuals at risk for Alzheimer's disease.

doi:10.2119/molmed.2011.00154

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Article

CALHM1 P86L polymorphism modulates CSF Aβ levels in cognitively healthy individuals at risk for Alzheimer's disease.

Molecular medicine (Cambridge, Mass.) - 1 Jan 2000

Koppel Jeremy, Campagne Fabien, Vingtdeux Valérie, Dreses-Werringloer Ute, Ewers Michael, Rujescu Dan, Hampel Harald, Gordon Marc L, Christen Erica, Chapuis Julien, Greenwald Blaine S, Davies Peter, Marambaud Philippe

Abstract excerpt

The calcium homeostasis modulator 1 (CALHM1) gene codes for a novel cerebral calcium channel controlling intracellular calcium homeostasis and amyloid-β (Aβ) peptide metabolism, a key event in the etiology of Alzheimer's disease (AD). The P86L polymorphism in CALHM1 (rs2986017) initially was proposed to impair CALHM1 functionally and to lead to an increase in Aβ accumulation in vitro in cell lines. Recently, it...

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Identifiers

PMID: 21629967
DOI: 10.2119/molmed.2011.00154
PMCID: PMC3188873

Genes

CALHM1

Variants

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CALHM1 P86L polymorphism modulates CSF Aβ levels in cognitively healthy individuals at risk for Alzheimer's disease.PMID 21629967Read ↗

CALHM1 P86L polymorphism does not alter amyloid-beta or tau in cerebrospinal fluid.Semantic proximity Read ↗

A polymorphism in CALHM1 influences Ca2+ homeostasis, Abeta levels, and Alzheimer's disease risk.Semantic proximity Read ↗

Rare variants in calcium homeostasis modulator 1 (CALHM1) found in early onset Alzheimer's disease patients alter calcium homeostasis.Semantic proximity Read ↗

Calcium homeostasis modulator 1 gene P86L polymorphism and the risk for alzheimer's disease: A meta-analysis.Semantic proximity Read ↗

No association between CALHM1 polymorphism and Alzheimer's disease risk in a Hungarian population.Semantic proximity Read ↗

The CALHM1 P86L polymorphism is a genetic modifier of age at onset in Alzheimer's disease: a meta-analysis study.Semantic proximity Read ↗

Genetic association between CALHM1, 2, and 3 polymorphisms and Alzheimer's disease in a Japanese population.Semantic proximity Read ↗

No association between CALHM1 variation and risk of Alzheimer disease.Semantic proximity Read ↗

Lack of association between CALHM1 p.P86L variation and Alzheimer's disease in the Han Chinese population.Semantic proximity Read ↗

Genetic association of CALHM1 rs2986017 polymorphism with risk of Alzheimer's disease: a meta-analysis.Semantic proximity Read ↗

No association between CALHM1 and risk for Alzheimer dementia in a Belgian population.Semantic proximity Read ↗

Validating predicted biological effects of Alzheimer's disease associated SNPs using CSF biomarker levels.Semantic proximity Read ↗

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