The chromosome 9 ALS and FTD locus is probably derived from a single founder

被引：77

作者：

Mok, Kin ^{[1
,2
]}

Traynor, Bryan J. ^{[3
,4
]}

Schymick, Jennifer ^{[3
,4
]}

Tienari, Pentti J. ^{[5
]}

Laaksovirta, Hannu ^{[3
,4
,5
]}

Peuralinna, Terhi ^{[5
]}

Myllykangas, Liisa ^{[6
,7
,8
]}

Chio, Adriano ^{[9
,10
]}

Shatunov, Aleksey ^{[11
]}

Boeve, Bradley F. ^{[12
]}

Boxer, Adam L. ^{[13
]}

DeJesus-Hernandez, Mariely ^{[14
]}

Mackenzie, Ian R. ^{[15
]}

Waite, Adrian ^{[16
]}

Williams, Nigel ^{[16
]}

Morris, Huw R. ^{[16
]}

Simon-Sanchez, Javier ^{[17
]}

van Swieten, John C. ^{[17
,18
]}

Heutink, Peter ^{[17
]}

Restagno, Gabriella ^{[19
]}

Mora, Gabriele ^{[20
]}

Morrison, Karen E. ^{[21
,22
]}

Shaw, Pamela J. ^{[23
]}

Rollinson, Pamela Sara ^{[24
]}

Al-Chalabi, Ammar ^{[16
]}

Rademakers, Rosa ^{[14
]}

Pickering-Brown, Stuart ^{[24
]}

Orrell, Richard W. ^{[1
,2
]}

Nalls, Michael A. ^{[3
]}

Hardy, John ^{[1
,2
]}

机构：

[1] UCL Inst Neurol, Reta Lila Weston Res Labs, Dept Mol Neurosci, London, England

[2] UCL Inst Neurol, Reta Lila Weston Res Labs, Dept Clin Neurosci, London, England

[3] NIA, Mol Genet Sect, Neurogenet Lab, NIH, Bethesda, MD 20892 USA

[4] NIA, Neuromuscular Dis Res Grp, Neurogenet Lab, NIH, Bethesda, MD 20892 USA

[5] Univ Helsinki, Dept Neurol, Helsinki Univ Cent Hosp, Mol Neurol Res Program, Helsinki, Finland

[6] Univ Helsinki, Dept Pathol, Haartman Inst, Helsinki, Finland

[7] HUSLAB, Helsinki, Finland

[8] Folkhalsan Inst Genet, Helsinki, Finland

[9] Univ Turin, Dept Neurosci, Turin, Italy

[10] Azienda Osped Univ San Giovanni Battista, Turin, Italy

[11] Kings Coll London, Inst Psychiat, Med Res Council Ctr Neurodegenerat Res, London WC2R 2LS, England

[12] Mayo Clin, Dept Neurol, Rochester, MN USA

[13] Univ Calif San Francisco, Dept Neurol, Memory & Aging Ctr, San Francisco, CA USA

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

[15] Univ British Columbia, Dept Pathol & Lab Med, Vancouver, BC V5Z 1M9, Canada

[16] Cardiff Univ, Sch Med, Med Res Council Ctr Neuropsychiat Genet & Genom, Cardiff, S Glam, Wales

[17] Vrije Univ Amsterdam Med Ctr, Sect Med Genom, Dept Clin Genet, Amsterdam, Netherlands

[18] Erasmus MC, Dept Neurol, Rotterdam, Netherlands

[19] Azienda Osped OIRM St Anna, Mol Genet Lab, Turin, Italy

[20] IRCCS Sci Inst Milan, Fdn Salvatore Mangeri, Milan, Italy

[21] Univ Birmingham, Sch Clin & Expt Med, Birmingham, W Midlands, England

[22] Queen Elizabeth Hosp, Univ Hosp Birmingham NHS Fdn Trust, Birmingham B15 2TH, W Midlands, England

[23] Univ Sheffield, Dept Neurosci, Sheffield Inst Translat Neurosci, SITraN, Sheffield, S Yorkshire, England

[24] Univ Manchester, Fac Human & Med Sci, Neurodegenerat & Mental Hlth Res Grp, Manchester, Lancs, England

来源：

NEUROBIOLOGY OF AGING | 2012年 / 33卷 / 01期

基金：

英国惠康基金;

关键词：

Genetics; Amyotrophic lateral sclerosis; Frontotemporal dementia; Finland; GENOME-WIDE ASSOCIATION; FRONTOTEMPORAL LOBAR DEGENERATION; AMYOTROPHIC-LATERAL-SCLEROSIS; DEMENTIA; SUSCEPTIBILITY; COMMON;

D O I：

10.1016/j.neurobiolaging.2011.08.005

中图分类号：

R592 [老年病学]; C [社会科学总论];

学科分类号：

03 ; 0303 ; 100203 ;

摘要：

We and others have recently reported an association between amyotrophic lateral sclerosis (ALS) and single nucleotide polymorphisms on chromosome 9p21 in several populations. Here we show that the associated haplotype is the same in all populations and that several families previously shown to have genetic linkage to this region also share this haplotype. The most parsimonious explanation of these data are that there is a single founder for this form of disease. (C) 2012 Elsevier Inc. All rights reserved.

引用

页码：209.e3 / 209.e8

页数：6

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