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IOS Press, Journal of Alzheimer's Disease, 1(22), p. 247-255

DOI: 10.3233/jad-2010-100933

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The CALHM1 P86L polymorphism is a genetic modifier of age at onset in Alzheimer’s disease: a meta-analysis study

Journal article published in 2010 by Maria Del Zompo, Lambert Jc, Jean-Charles Lambert, Kristel Sleegers, Antonio González-Pérez, Martin Ingelsson, Gary W. Beecham, Mikko Hiltunen, Beecham Gw, Onofre Combarros, Maria J. Bullido, Nathalie Brouwers, Karolien Bettens, Claudine Berr, Florence Pasquier and other authors.
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Abstract

The only established genetic determinant of non-Mendelian forms of Alzheimer's disease (AD) is the epsilon4 allele of the apolipoprotein E gene (APOE). Recently, it has been reported that the P86L polymorphism of the calcium homeostasis modulator 1 gene (CALHM1) is associated with the risk of developing AD. In order to independently assess this association, we performed a meta-analysis of 7,873 AD cases and 13,274 controls of Caucasian origin (from a total of 24 centers in Belgium, Finland, France, Italy, Spain, Sweden, the UK, and the USA). Our results indicate that the CALHM1 P86L polymorphism is likely not a genetic determinant of AD but may modulate age of onset by interacting with the effect of the epsilon4 allele of the APOE gene.