No replication of genetic association between candidate polymorphisms and Alzheimer's disease

被引：57

作者：

Cousin, Emmanuelle ^{[2
]}

Mace, Sandrine ^{[2
]}

Rocher, Corinne ^{[2
]}

Dib, Colette ^{[2
]}

Muzard, Gaelle ^{[2
]}

Hannequin, Didier ^{[1
]}

Pradier, Laurent ^{[3
]}

Deleuze, Jean-Francois ^{[2
]}

Genin, Emmanuelle ^{[4
]}

Brice, Alexis ^{[5
]}

Campion, Dominique ^{[1
]}

机构：

[1] IFRMP, Fac Med, INSERM, U614, F-76000 Rouen, France

[2] Sanofi Aventis Rech & Dev, Ctr Genet Humaine, Dept Biol Sci, F-91057 Evry, France

[3] Sanofi Aventis Rech & Dev, Ctr Rech Vitry Alfortville, Cent Nervous Syst Dept, F-94400 Vitry Sur Seine, France

[4] Univ Paris Diderot, Fdn Jean Dausset, INSERM, CEPH,UMR S946, F-75010 Paris, France

[5] Hop La Pitie Salpetriere, INSERM, U679, Paris, France

来源：

NEUROBIOLOGY OF AGING | 2011年 / 32卷 / 08期

关键词：

Alzheimer disease; Replication; Association studies; LBP-1C/CP2/LSF GENE; RISK; POPULATION; HAPLOTYPE; VARIANTS; PROMOTER;

D O I：

10.1016/j.neurobiolaging.2009.09.004

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：

Alzheimer's disease is a genetically complex disorder, for which new putative susceptibility gene are constantly proposed in the literature. We selected 16 candidate genes involved in biological pathways closely related to the pathology, and for which a genetic association with Alzheimer's disease was previously detected: ACE, BACE1, BDNF, ECE1, HSPG2, IDE, IL1a, IL6, IL10, MAPT, PLAU, PrnP, PSEN1, SORL1, TFCP2 and TGFb1. The variants originally associated with the disease were genotyped in a French Caucasian sample including 428 cases and 475 controls and tested for association in order to replicate the initial results. Despite a careful replication study design, we failed to validate the initial findings for any of these variants, with the possible exception of MAPT, SORL1 and TFCP2 for which some nominal but inconsistent evidence of association was observed. (C) 2009 Elsevier Inc. All rights reserved.

引用

页码：1443 / 1451

页数：9

共 27 条

[1]

[Anonymous], ALZGENE DATABASE

[2]

Maximum-likelihood estimation of haplotype frequencies in nuclear families [J].

Becker, T ;

Knapp, M .

GENETIC EPIDEMIOLOGY, 2004, 27 (01) :21-32

[3]

Alzheimer's disease: one disorder, too many genes? [J].

Bertram, L ;

Tanzi, RE .

HUMAN MOLECULAR GENETICS, 2004, 13 :R135-R141

[4]

Genetic association analysis: lessons from the study of Alzheimers Disease [J].

Brookes, AJ ;

Prince, JA .

MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS, 2005, 573 (1-2) :152-159

[5]

Replicating genotype-phenotype associations [J].

Chanock, Stephen J. ;

Manolio, Teri ;

Boehnke, Michael ;

Boerwinkle, Eric ;

Hunter, David J. ;

Thomas, Gilles ;

Hirschhorn, Joel N. ;

Abecasis, Goncalo ;

Altshuler, David ;

Bailey-Wilson, Joan E. ;

Brooks, Lisa D. ;

Cardon, Lon R. ;

Daly, Mark ;

Donnelly, Peter ;

Fraumeni, Joseph F., Jr. ;

Freimer, Nelson B. ;

Gerhard, Daniela S. ;

Gunter, Chris ;

Guttmacher, Alan E. ;

Guyer, Mark S. ;

Harris, Emily L. ;

Hoh, Josephine ;

Hoover, Robert ;

Kong, C. Augustine ;

Merikangas, Kathleen R. ;

Morton, Cynthia C. ;

Palmer, Lyle J. ;

Phimister, Elizabeth G. ;

Rice, John P. ;

Roberts, Jerry ;

Rotimi, Charles ;

Tucker, Margaret A. ;

Vogan, Kyle J. ;

Wacholder, Sholom ;

Wijsman, Ellen M. ;

Winn, Deborah M. ;

Collins, Francis S. .

NATURE, 2007, 447 (7145) :655-660

[6]

PRNP Val129 homozygosity increases risk for early-onset Alzheimer's disease [J].

Dermaut, B ;

Croes, EA ;

Rademakers, R ;

Van den Broeck, M ;

Cruts, M ;

Hofman, A ;

van Duijn, CM ;

Van Broeckhoven, C .

ANNALS OF NEUROLOGY, 2003, 53 (03) :409-412

[7]

Insulin degrading enzyme (IDE) genetic variants and risk of Alzheimer's disease:: evidence of effect modification by apolipoprotein E (APOE) [J].

Edland, SD ;

Vriesé, FWD ;

Compton, D ;

Smith, GE ;

Ivnik, R ;

Boeve, BF ;

Tangalos, EG ;

Petersen, RC .

NEUROSCIENCE LETTERS, 2003, 345 (01) :21-24

[8]

Elevated amyloid β protein (Aβ42) and late onset Alzheimer's disease are associated with single nucleotide polymorphisms in the urokinase-type plasminogen activator gene [J].

Ertekin-Taner, N ;

Ronald, J ;

Feuk, L ;

Prince, J ;

Tucker, M ;

Younkin, L ;

Hella, M ;

Jain, S ;

Hackett, A ;

Scanlin, L ;

Kelly, J ;

Kihiko-Ehman, M ;

Neltner, M ;

Hersh, L ;

Kindy, M ;

Markesbery, W ;

Hutton, M ;

de Andrade, M ;

Petersen, RC ;

Graff-Radford, N ;

Estus, S ;

Brookes, AJ ;

Younkin, SG .

HUMAN MOLECULAR GENETICS, 2005, 14 (03) :447-460

[9]

Endothelin-converting enzyme-1 is expressed in human cerebral cortex and protects against Alzheimer's disease [J].

Funalot, B ;

Ouimet, T ;

Claperon, A ;

Fallet, C ;

Delacourte, A ;

Epelbaum, J ;

Subkowski, T ;

Léonard, N ;

Codron, V ;

David, JP ;

Amouyel, P ;

Schwartz, JC ;

Helbecque, N .

MOLECULAR PSYCHIATRY, 2004, 9 (12) :1122-1128

[10]

Grimaldi LME, 2000, ANN NEUROL, V47, P361, DOI 10.1002/1531-8249(200003)47:3<361::AID-ANA12>3.0.CO

← 1 2 3 →