Meta-analysis of the Association Between Variants in SORL1 and Alzheimer Disease

被引：123

作者：

Reitz, Christiane ^{[1
,2
,3
]}

Cheng, Rong ^{[1
,2
,5
]}

Rogaeva, Ekaterina ^{[6
]}

Lee, Joseph H. ^{[1
,2
,5
]}

Tokuhiro, Shinya ^{[6
]}

Zou, Fanggeng ^{[31
,32
]}

Bettens, Karolien ^{[18
,19
]}

Sleegers, Kristel ^{[18
,19
]}

Tan, Eng King ^{[20
,30
]}

Kimura, Ryo ^{[1
,2
]}

Shibata, Nobuto ^{[22
]}

Arai, Heii ^{[22
]}

Kamboh, M. Ilyas ^{[28
]}

Prince, Jonathan A. ^{[24
]}

Maier, Wolfgang ^{[25
,26
]}

Riemenschneider, Matthias ^{[27
]}

Owen, Michael ^{[23
]}

Harold, Denise ^{[23
]}

Hollingworth, Paul ^{[23
]}

Cellini, Elena ^{[34
]}

Sorbi, Sandro ^{[34
]}

Nacmias, Benedetta ^{[34
]}

Takeda, Masatoshi ^{[21
]}

Pericak-Vance, Margaret A. ^{[33
]}

Haines, Jonathan L. ^{[35
]}

Younkin, Steven ^{[31
,32
]}

Williams, Julie ^{[23
]}

van Broeckhoven, Christine ^{[18
,19
]}

Farrer, Lindsay A. ^{[8
,9
,10
,11
,12
,13
,14
,15
,16
,17
]}

St George-Hyslop, Peter H. ^{[6
,7
,29
]}

Mayeux, Richard ^{[1
,2
,3
,4
,5
]}

机构：

[1] Columbia Univ, Coll Phys & Surg, Gertrude H Sergievsky Ctr, New York, NY 10032 USA

[2] Columbia Univ, Coll Phys & Surg, Taub Inst Res Alzheimers Dis & Aging Brain, New York, NY 10032 USA

[3] Columbia Univ, Coll Phys & Surg, Dept Neurol, New York, NY 10032 USA

[4] Columbia Univ, Coll Phys & Surg, Dept Psychiat, New York, NY 10032 USA

[5] Columbia Univ, Sch Publ Hlth, Dept Epidemiol, New York, NY 10032 USA

[6] Univ Toronto, Ctr Res Neurodegenerat Dis, Toronto, ON, Canada

[7] Univ Hlth Network, Dept Med, Toronto, ON, Canada

[8] Boston Univ, Sch Med, Genet Program, Dept Med, Boston, MA 02118 USA

[9] Boston Univ, Sch Med, Dept Neurol, Boston, MA 02118 USA

[10] Boston Univ, Sch Med, Dept Genet & Genom, Boston, MA 02118 USA

[11] Boston Univ, Sch Med, Dept Epidemiol, Boston, MA 02118 USA

[12] Boston Univ, Sch Med, Dept Biostat, Boston, MA 02118 USA

[13] Boston Univ, Sch Publ Hlth, Genet Program, Dept Med, Boston, MA 02118 USA

[14] Boston Univ, Sch Publ Hlth, Dept Neurol, Boston, MA 02118 USA

[15] Boston Univ, Sch Publ Hlth, Dept Genet & Genom, Boston, MA 02118 USA

[16] Boston Univ, Sch Publ Hlth, Dept Epidemiol, Boston, MA 02118 USA

[17] Boston Univ, Sch Publ Hlth, Dept Biostat, Boston, MA 02118 USA

[18] Univ Antwerp, Neurodegenerat Brain Dis Grp, Vlaams Inst Biotechnol, Dept Mol Genet, B-2020 Antwerp, Belgium

[19] Univ Antwerp, Neurogenet Lab, Inst Born Bunge, B-2020 Antwerp, Belgium

[20] Singapore Gen Hosp, Dept Neurol, Singapore 0316, Singapore

[21] Osaka Univ, Grad Sch Med, Dept Psychiat, Osaka Gen Med Ctr, Osaka, Japan

[22] Juntendo Univ, Sch Med, Dept Psychiat, Tokyo 113, Japan

[23] Cardiff Univ, Sch Med, MRC, Ctr Neuropsychiat Genet & Genom,Dept Psychol & Me, Cardiff, S Glam, Wales

[24] Karolinska Inst, Dept Med Epidemiol & Biostat, Stockholm, Sweden

[25] Univ Bonn, Dept Psychiat, D-5300 Bonn, Germany

[26] Deutsch Zentrum Neurodegenerat Erkrankungen, Bonn, Germany

[27] Tech Univ Munich, Eurochem & Neurogenet Lab, Dept Psychiat & Psychotherapy, Munich, Germany

[28] Univ Pittsburgh, Dept Human Genet, Pittsburgh, PA USA

[29] Univ Cambridge, Cambridge Inst Med Res, Cambridge, England

[30] Duke Natl Univ Singapore, Grad Sch Med, Natl Inst Neurosci, Singapore, Singapore

[31] Mayo Clin Jacksonville, Dept Neurosci, Jacksonville, FL 32224 USA

[32] Mayo Clin Jacksonville, Dept Neurol, Jacksonville, FL 32224 USA

[33] Univ Miami, Miller Sch Med, Miami Inst Human Genom, Miami, FL 33136 USA

[34] Univ Florence, Dept Neurol & Psychiat Sci, Florence, Italy

[35] Vanderbilt Univ, Sch Med, Ctr Human Genet Res, Nashville, TN 37212 USA

来源：

ARCHIVES OF NEUROLOGY | 2011年 / 68卷 / 01期

基金：

美国国家卫生研究院; 日本学术振兴会; 英国医学研究理事会; 英国惠康基金;

关键词：

GENOME-WIDE ASSOCIATION; GENETIC-VARIANTS; LR11/SORLA EXPRESSION; IDENTIFIES VARIANTS; RISK; POLYMORPHISMS; CLU;

D O I：

10.1001/archneurol.2010.346

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Objective: To reexamine the association between the neuronal sortilin-related receptor gene (SORL1) and Alzheimer disease (AD). Design: Comprehensive and unbiased meta-analysis of all published and unpublished data from case-control studies for the SORL1 single-nucleotide polymorphisms (SNPs) that had been repeatedly assessed across studies. Setting: Academic research institutions in the United States, the Netherlands, Canada, Belgium, the United Kingdom, Singapore, Japan, Sweden, Germany, France, and Italy. Participants: All published white and Asian case-control data sets, which included a total of 12 464 cases and 17 929 controls. Main Outcome Measures: Alzheimer disease according to the Diagnostic and Statistical Manual of Mental Disorders (Fourth Edition) and the National Institute of Neurological and Communicative Disorders and Stroke and the Alzheimer's Disease and Related Disorders Association (now known as the Alzheimer's Association). Results: In the white data sets, several markers were associated with AD after correction for multiple testing, including previously reported SNPs 8, 9, and 10 (P<.001). In addition, the C-G-C haplotype at SNPs 8 through 10 was associated with AD risk (P<.001). In the combined Asian data sets, SNPs 19 and 23 through 25 were associated with AD risk (P<.001). The disease-associated alleles at SNPs 8, 9, and 10 (120 873 131-120 886 175 base pairs [ bp]; C-G-C alleles), at SNP 19 (120 953 300 bp; G allele), and at SNPs 24 through 25 (120 988 611 bp; T and C alleles) were the same previously reported alleles. The SNPs 4 through 5, 8 through 10, 12, and 19 through 25 belong to distinct linkage disequilibrium blocks. The same alleles at SNPs 8 through 10 (C-G-C), 19 (G), and 24 and 25 (T and C) have also been associated with AD endophenotypes, including white matter hyperintensities and hippocampal atrophy on magnetic resonance imaging, cerebrospinal fluid measures of amyloid beta-peptide 42, and full-length SORL1 expression in the human brain. Conclusion: This comprehensive meta-analysis provides confirmatory evidence that multiple SORL1 variants in distinct linkage disequilibrium blocks are associated with AD.

引用

页码：99 / 106

页数：8

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