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 journalArticle

15 Citations (Scopus)

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 languageEnglish (US)
JournalNeurobiology of Aging
Volume33
Issue number2
DOIs
StatePublished - Feb 2012

Fingerprint

Alzheimer Disease
Mutation
Amyloid beta-Protein Precursor
Proteolysis

Keywords

  • Association
  • Genetics
  • Mutation
  • Rare variation

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)
  • Aging
  • Developmental Biology
  • Geriatrics and Gerontology

Cite this

Evidence against a role for rare ADAM10 mutations in sporadic Alzheimer Disease. / Cai, Guiqing; Atzmon, Gil; Naj, Adam C.; Beecham, Gary W.; Barzilai, Nir; Haines, Jonathan L.; Sano, Mary; Pericak-Vance, Margaret; Buxbaum, Joseph D.

In: Neurobiology of Aging, Vol. 33, No. 2, 02.2012.

Research output: Contribution to journalArticle

Cai, G, Atzmon, G, Naj, AC, Beecham, GW, Barzilai, N, Haines, JL, Sano, M, Pericak-Vance, M & Buxbaum, JD 2012, 'Evidence against a role for rare ADAM10 mutations in sporadic Alzheimer Disease', Neurobiology of Aging, vol. 33, no. 2. https://doi.org/10.1016/j.neurobiolaging.2010.03.003
Cai, Guiqing ; Atzmon, Gil ; Naj, Adam C. ; Beecham, Gary W. ; Barzilai, Nir ; Haines, Jonathan L. ; Sano, Mary ; Pericak-Vance, Margaret ; Buxbaum, Joseph D. / Evidence against a role for rare ADAM10 mutations in sporadic Alzheimer Disease. In: Neurobiology of Aging. 2012 ; Vol. 33, No. 2.
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