Association of CR1, CLU and PICALM with Alzheimer's disease in a cohort of clinically characterized and neuropathologically verified individuals

被引：191

作者：

Corneveaux, Jason J. ^{[1
,2
]}

Myers, Amanda J. ^{[3
,4
,5
,6
]}

Allen, April N. ^{[1
,2
]}

Pruzin, Jeremy J. ^{[1
,2
]}

Ramirez, Manuel ^{[3
,4
,5
]}

Engel, Anzhelika ^{[3
,4
,5
]}

Nalls, Michael A. ^{[7
]}

Chen, Kewei ^{[2
,13
]}

Lee, Wendy ^{[2
,13
]}

Chewning, Kendria ^{[1
,2
]}

Villa, Stephen E. ^{[1
,2
]}

Meechoovet, Hunsar B. ^{[1
,2
]}

Gerber, Jill D. ^{[1
,2
]}

Frost, Danielle ^{[1
,2
]}

Benson, Hollie L. ^{[1
,2
]}

O'Reilly, Sean ^{[1
,2
]}

Chibnik, Lori B. ^{[9
]}

Shulman, Joshua M. ^{[9
]}

Singleton, Andrew B. ^{[7
]}

Craig, David W. ^{[1
,2
]}

Van Keuren-Jensen, Kendall R. ^{[1
,2
]}

Dunckley, Travis ^{[1
,2
]}

Bennett, David A. ^{[8
]}

De Jager, Philip L. ^{[9
]}

Heward, Christopher ^{[10
]}

Hardy, John ^{[11
,12
]}

Reiman, Eric M. ^{[1
,2
,13
]}

Huentelman, Matthew J. ^{[1
,2
]}

机构：

[1] Translat Genom Res Inst TGen, Neurogenom Div, Phoenix, AZ 85004 USA

[2] Arizona Alzheimers Consortium, Phoenix, AZ 85006 USA

[3] Univ Miami, Miller Sch Med, Lab Funct Neurogenom, Miami, FL 33136 USA

[4] Univ Miami, Miller Sch Med, Dept Psychiat & Behav Sci, Div Neurosci, Miami, FL 33136 USA

[5] Univ Miami, Miller Sch Med, Dept Human Genet & Genom, Miami, FL 33136 USA

[6] Johnnie B Byrd Sr Alzheimers Ctr & Res Inst, Tampa, FL 33613 USA

[7] NIA, Mol Genet Sect, Neurogenet Lab, Intramural Res Program,NIH, Bethesda, MD 20892 USA

[8] Rush Univ, Med Ctr, Rush Alzheimers Dis Ctr, Chicago, IL 60612 USA

[9] Harvard Univ, Sch Med, Brigham & Womens Hosp, Dept Neurol,Program Translat NeuroPsychiat Genom, Boston, MA 02115 USA

[10] Kronos Sci, Phoenix, AZ 85016 USA

[11] UCL Inst Neurol, Dept Mol Neurosci, London WC1N 3BG, England

[12] UCL Inst Neurol, Reta Lila Res Labs, London WC1N 3BG, England

[13] Banner Alzheimers Inst, Phoenix, AZ 85006 USA

来源：

HUMAN MOLECULAR GENETICS | 2010年 / 19卷 / 16期

基金：

英国医学研究理事会; 美国国家卫生研究院;

关键词：

WHOLE-GENOME ASSOCIATION; APOLIPOPROTEIN-E GENOTYPES; COMMUNITY POPULATION; IDENTIFIES VARIANTS; WIDE ASSOCIATION; TYPE-4; ALLELE; ONSET; RISK; OLDER; GENE;

D O I：

10.1093/hmg/ddq221

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

In this study, we assess 34 of the most replicated genetic associations for Alzheimer's disease (AD) using data generated on Affymetrix SNP 6.0 arrays and imputed at over 5.7 million markers from a unique cohort of over 1600 neuropathologically defined AD cases and controls (1019 cases and 591 controls). Testing the top genes from the AlzGene meta-analysis, we confirm the well-known association with APOE single nucleotide polymorphisms (SNPs), the CLU, PICALM and CR1 SNPs recently implicated in unusually large data sets, and previously implicated CST3 and ACE SNPs. In the cases of CLU, PICALM and CR1, as well as in APOE, the odds ratios we find are slightly larger than those previously reported in clinical samples, consistent with what we believe to be more accurate classification of disease in the clinically characterized and neuropathologically confirmed AD cases and controls.

引用

页码：3295 / 3301

页数：7

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