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

被引：20

作者：

Cai, Guiqing ^{[1
]}

Atzmon, Gil ^{[4
]}

Naj, Adam C. ^{[5
]}

Beecham, Gary W. ^{[5
]}

Barzilai, Nir ^{[4
]}

Haines, Jonathan L. ^{[6
]}

Sano, Mary ^{[1
,7
]}

Pericak-Vance, Margaret ^{[5
]}

Buxbaum, Joseph D. ^{[1
,2
,3
]}

机构：

[1] Mt Sinai Sch Med, Dept Psychiat, New York, NY 10029 USA

[2] Mt Sinai Sch Med, Dept Neurosci, New York, NY 10029 USA

[3] Mt Sinai Sch Med, Dept Genet & Genom Sci, New York, NY 10029 USA

[4] Albert Einstein Coll Med, Dept Med & Genet, Bronx, NY 10467 USA

[5] Univ Miami, Hussman Inst Human Genom, Miami, FL USA

[6] Vanderbilt Univ, Med Ctr, Nashville, TN USA

[7] James J Peters Vet Affairs Med Ctr, Bronx, NY USA

来源：

NEUROBIOLOGY OF AGING | 2012年 / 33卷 / 02期

基金：

美国国家卫生研究院;

关键词：

Association; Genetics; Mutation; Rare variation; ASSOCIATION; GENOTYPE;

D O I：

10.1016/j.neurobiolaging.2010.03.003

中图分类号：

R592 [老年病学]; C [社会科学总论];

学科分类号：

030301 [社会学]; 100201 [内科学];

摘要：

The Alzheimer amyloid protein precursor (APP) is subject to proteolysis by ADAM10 and ADAM17, precluding the formation of A beta. 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. (C) 2012 Elsevier Inc. All rights reserved.

引用

页码：416 / U719

页数：5

共 9 条

[1]

GRR: graphical representation of relationship errors [J].

Abecasis, GR ;

Cherny, SS ;

Cookson, WOC ;

Cardon, LR .

BIOINFORMATICS, 2001, 17 (08) :742-743

[2]

A genotype of exceptional longevity is associated with preservation of cognitive function [J].

Barzilai, N. ;

Atzmon, G. ;

Derby, CA. ;

Bauman, J. M. ;

Lipton, R. B. .

NEUROLOGY, 2006, 67 (12) :2170-2175

[3]

Regional distribution of neuritic plaques in the nondemented elderly and subjects with very mild Alzheimer disease [J].

Haroutunian, V ;

Perl, DP ;

Purohit, DP ;

Marin, D ;

Khan, K ;

Lantz, M ;

Davis, KL ;

Mohs, RC .

ARCHIVES OF NEUROLOGY, 1998, 55 (09) :1185-1191

[4]

Overrepresentation of rare variants in a specific ethnic group may confuse interpretation of association analyses [J].

Keen-Kim, Dianne ;

Mathews, Carol A. ;

Reus, Victor I. ;

Lowe, Thomas L. ;

Diego Herrera, Luis ;

Budman, Cathy L. ;

Gross-Tsur, Varda ;

Pulver, Ann E. ;

Bruun, Ruth D. ;

Erenberg, Gerald ;

Naarden, Allan ;

Sabatti, Chiara ;

Freimer, Nelson B. .

HUMAN MOLECULAR GENETICS, 2006, 15 (22) :3324-3328

[5]

Potential late-onset Alzheimer's disease-associated mutations in the ADAM10 gene attenuate α-secretase activity [J].

Kim, Minji ;

Suh, Jaehong ;

Romano, Donna ;

Truong, Mimy H. ;

Mullin, Kristina ;

Hooli, Basavaraj ;

Norton, David ;

Tesco, Giuseppina ;

Elliott, Kathy ;

Wagner, Steven L. ;

Moir, Robert D. ;

Becker, K. David ;

Tanzi, Rudolph E. .

HUMAN MOLECULAR GENETICS, 2009, 18 (20) :3987-3996

[6]

Association mapping in structured populations [J].

Pritchard, JK ;

Stephens, M ;

Rosenberg, NA ;

Donnelly, P .

AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 67 (01) :170-181

[7]

Pritchard JK, 2000, GENETICS, V155, P945

[8]

PLINK: A tool set for whole-genome association and population-based linkage analyses [J].

Purcell, Shaun ;

Neale, Benjamin ;

Todd-Brown, Kathe ;

Thomas, Lori ;

Ferreira, Manuel A. R. ;

Bender, David ;

Maller, Julian ;

Sklar, Pamela ;

de Bakker, Paul I. W. ;

Daly, Mark J. ;

Sham, Pak C. .

AMERICAN JOURNAL OF HUMAN GENETICS, 2007, 81 (03) :559-575

[9]

Amyloid Precursor Protein Trafficking, Processing, and Function [J].

Thinakaran, Gopal ;

Koo, Edward H. .

JOURNAL OF BIOLOGICAL CHEMISTRY, 2008, 283 (44) :29615-29619

← 1 →