Evidence against a role for rare ADAM10 mutations in sporadic Alzheimer Disease

Guiqing Cai; Gil Atzmon; Adam C. Naj; Gary W. Beecham; Nir Barzilai; Jonathan L. Haines; Mary Sano; Margaret Pericak-Vance; Joseph D. Buxbaum

doi:10.1016/j.neurobiolaging.2010.03.003

Evidence against a role for rare ADAM10 mutations in sporadic Alzheimer Disease

Guiqing Cai, Gil Atzmon, Adam C. Naj, Gary W. Beecham, Nir Barzilai, Jonathan L. Haines, Mary Sano, Margaret Pericak-Vance, Joseph D. Buxbaum

Research output: Contribution to journal › Article › peer-review

Abstract

The Alzheimer amyloid protein precursor (APP) is subject to proteolysis by ADAM10 and ADAM17, precluding the formation of Aβ. Recently, coding variations in ADAM10 resulting in altered function have been reported in familial Alzheimer disease (AD). The authors carried out a large-scale (n = 576: Controls, 271; AD, 305) resequencing study of ADAM10 in sporadic AD. The results do not support a significant role for ADAM10 mutations in AD. The results also make it clear that the careful examination of ancestry required in any case-control comparison is especially true with rare variations, where even a very small number of variations might form the basis of scientific conclusions.

Original language	English
Pages (from-to)	416-417.e3
Journal	Neurobiology of Aging
Volume	33
Issue number	2
DOIs	https://doi.org/10.1016/j.neurobiolaging.2010.03.003
State	Published - Feb 2012
Externally published	Yes

Bibliographical note

Funding Information:
This work was supported by grants from the National Institute on Aging of the National Institutes of Health ( AG010491 and AG002219 , as well as pilot award to GC from the Mount Sinai Alzheimer disease Research Center / AG005138 ). The longevity study was supported by AG027734 , AG018728 , RR012248 , DK020541 , and RR012248 and a grant from the Glenn Foundation . JDB is the G. Harold and Leila Y. Mathers Professor of Geriatrics and Adult Development.

Keywords

Association
Genetics
Mutation
Rare variation

ASJC Scopus subject areas

General Neuroscience
Aging
Clinical Neurology
Developmental Biology
Geriatrics and Gerontology

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10.1016/j.neurobiolaging.2010.03.003

Cite this

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title = "Evidence against a role for rare ADAM10 mutations in sporadic Alzheimer Disease",

abstract = "The Alzheimer amyloid protein precursor (APP) is subject to proteolysis by ADAM10 and ADAM17, precluding the formation of Aβ. Recently, coding variations in ADAM10 resulting in altered function have been reported in familial Alzheimer disease (AD). The authors carried out a large-scale (n = 576: Controls, 271; AD, 305) resequencing study of ADAM10 in sporadic AD. The results do not support a significant role for ADAM10 mutations in AD. The results also make it clear that the careful examination of ancestry required in any case-control comparison is especially true with rare variations, where even a very small number of variations might form the basis of scientific conclusions.",

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note = "Funding Information: This work was supported by grants from the National Institute on Aging of the National Institutes of Health ( AG010491 and AG002219 , as well as pilot award to GC from the Mount Sinai Alzheimer disease Research Center / AG005138 ). The longevity study was supported by AG027734 , AG018728 , RR012248 , DK020541 , and RR012248 and a grant from the Glenn Foundation . JDB is the G. Harold and Leila Y. Mathers Professor of Geriatrics and Adult Development. ",

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doi = "10.1016/j.neurobiolaging.2010.03.003",

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AU - Haines, Jonathan L.

AU - Sano, Mary

AU - Pericak-Vance, Margaret

AU - Buxbaum, Joseph D.

N1 - Funding Information: This work was supported by grants from the National Institute on Aging of the National Institutes of Health ( AG010491 and AG002219 , as well as pilot award to GC from the Mount Sinai Alzheimer disease Research Center / AG005138 ). The longevity study was supported by AG027734 , AG018728 , RR012248 , DK020541 , and RR012248 and a grant from the Glenn Foundation . JDB is the G. Harold and Leila Y. Mathers Professor of Geriatrics and Adult Development.

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Evidence against a role for rare ADAM10 mutations in sporadic Alzheimer Disease

Abstract

Bibliographical note

Keywords

ASJC Scopus subject areas

Access to Document

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