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PMID: 19472444 Published · ppublish English Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

CALHM1 polymorphism is not associated with late-onset Alzheimer disease.

Annals of human genetics ·Vol. 73 ·No. Pt 3 ·2009-05-00 ·Pages 379-81

Beecham GW, Schnetz-Boutaud N, Haines JL, Pericak-Vance MA

Abstract

Data suggests that the P86L polymorphism (rs2986017) in the calcium homeostasis modulator 1 (CALHM1) gene interferes with CALHM1 functionality, increases Abeta levels, and is associated with late-onset Alzheimer's disease (LOAD). Previous studies have demonstrated association with P86L and LOAD in three of five case-control cohorts, and a joint analysis of all datasets showed association with a p-value of 2 x 10(-10) and an allele-specific odds ratio of 1.44 (2,043 cases, 1,361 controls total). In this short communication we attempt to replicate these results in our case-control cohort (510 cases, 524 controls). We show no association between P86L and LOAD despite having sufficient power to detect at the reported odds ratios, and briefly discuss potential reasons for the discrepancy.

MeSH Terms
Age of Onset Aged Alzheimer Disease/epidemiology,genetics Calcium Channels/genetics Case-Control Studies Cohort Studies Female Humans Male Membrane Glycoproteins/genetics Middle Aged Polymorphism, Genetic
Chemicals
CALHM1 protein, human Calcium Channels Membrane Glycoproteins
Authors & Affiliations
4 authors, click to expand affiliations / ORCID
Beecham Gary W
Miami Institute for Human Genomics, University of Miami, Miami, FL, USA.
Schnetz-Boutaud Nathalie
Haines Jonathan L
Pericak-Vance Margaret A
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5 references, click to expand
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Article Info
Journal
Annals of human genetics
Abbr.
Ann Hum Genet
ISSN
1469-1809
Published
2009-05-00
Pages
379-81
Language
English
Region
England
NLM ID
0416661
PMCID
PMC2918418
Subset
IM
Grants
NIA NIH HHS · R01 AG020135-01 · United States
NIA NIH HHS · AG19757 · United States
NIA NIH HHS · R01 AG019757-01A1 · United States
NINDS NIH HHS · R01 NS031153 · United States
NIA NIH HHS · R01 AG019757-06 · United States
NINDS NIH HHS · NS31153 · United States
NIA NIH HHS · R01 AG027944-01A2 · United States
NIA NIH HHS · R01 AG027944 · United States
NINDS NIH HHS · R01 NS031153-07 · United States
NIA NIH HHS · AG20135 · United States
NIA NIH HHS · R01 AG027944-02 · United States
NIA NIH HHS · R01 AG020135 · United States
NIA NIH HHS · R01 AG019757 · United States
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