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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 A?. 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.

SUBMITTER: Cai G

PROVIDER: S-EPMC4084881 | biostudies-literature | 2012 Feb

REPOSITORIES: biostudies-literature

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Evidence against a role for rare ADAM10 mutations in sporadic Alzheimer disease.

Cai Guiqing G Atzmon Gil G Naj Adam C AC Beecham Gary W GW Barzilai Nir N Haines Jonathan L JL Sano Mary M Pericak-Vance Margaret M Buxbaum Joseph D JD

Neurobiology of aging 20100409 2

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 ...[more]

PMID: 20381196

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