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

Kin Mok; Bryan J Traynor; Jennifer Schymick; Pentti J Tienari; Hannu Laaksovirta; Terhi Peuralinna; Liisa Myllykangas; Adriano Chiò; Aleksey Shatunov; Bradley F Boeve; Adam L Boxer; Mariely DeJesus-Hernandez; Ian R Mackenzie; Adrian Waite; Nigel Williams; Huw R Morris; Javier Simón-Sánchez; John C van Swieten; Peter Heutink; Gabriella Restagno; Gabriele Mora; Karen E Morrison; Pamela J Shaw; Pamela Sara Rollinson; Ammar Al-Chalabi; Rosa Rademakers; Stuart Pickering-Brown; Richard W Orrell; Michael A Nalls; John Hardy

doi:10.1016/j.neurobiolaging.2011.08.005

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

Kin Mok, Bryan J Traynor, Jennifer Schymick, Pentti J Tienari, Hannu Laaksovirta, Terhi Peuralinna, Liisa Myllykangas, Adriano Chiò, Aleksey Shatunov, Bradley F Boeve, Adam L Boxer, Mariely DeJesus-Hernandez, Ian R Mackenzie, Adrian Waite, Nigel Williams, Huw R Morris, Javier Simón-Sánchez, John C van Swieten, Peter Heutink, Gabriella RestagnoGabriele Mora, Karen E Morrison, Pamela J Shaw, Pamela Sara Rollinson, Ammar Al-Chalabi, Rosa Rademakers, Stuart Pickering-Brown, Richard W Orrell, Michael A Nalls, John Hardy

UCL University College London

Research output: Contribution to journal › Article › peer-review

112 Citations (Scopus)

Abstract

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.

Original language	English
Pages (from-to)	209.e3-8
Journal	Neurobiology of Aging
Volume	33
Issue number	1
DOIs	https://doi.org/10.1016/j.neurobiolaging.2011.08.005
Publication status	Published - Jan 2012

Keywords

Amyotrophic Lateral Sclerosis
Chromosomes, Human, Pair 9
Finland
Frontotemporal Dementia
Genetic Linkage
Genome-Wide Association Study
Haplotypes
Humans
Polymorphism, Single Nucleotide
Journal Article
Meta-Analysis
Research Support, N.I.H., Extramural
Research Support, N.I.H., Intramural
Research Support, Non-U.S. Gov't

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10.1016/j.neurobiolaging.2011.08.005

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Mok, K., Traynor, B. J., Schymick, J., Tienari, P. J., Laaksovirta, H., Peuralinna, T., Myllykangas, L., Chiò, A., Shatunov, A., Boeve, B. F., Boxer, A. L., DeJesus-Hernandez, M., Mackenzie, I. R., Waite, A., Williams, N., Morris, H. R., Simón-Sánchez, J., van Swieten, J. C., Heutink, P., ... Hardy, J. (2012). Chromosome 9 ALS and FTD locus is probably derived from a single founder. Neurobiology of Aging, 33(1), 209.e3-8. https://doi.org/10.1016/j.neurobiolaging.2011.08.005

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title = "Chromosome 9 ALS and FTD locus is probably derived from a single founder",

abstract = "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.",

keywords = "Amyotrophic Lateral Sclerosis, Chromosomes, Human, Pair 9, Finland, Frontotemporal Dementia, Genetic Linkage, Genome-Wide Association Study, Haplotypes, Humans, Polymorphism, Single Nucleotide, Journal Article, Meta-Analysis, Research Support, N.I.H., Extramural, Research Support, N.I.H., Intramural, Research Support, Non-U.S. Gov't",

author = "Kin Mok and Traynor, {Bryan J} and Jennifer Schymick and Tienari, {Pentti J} and Hannu Laaksovirta and Terhi Peuralinna and Liisa Myllykangas and Adriano Chi{\`o} and Aleksey Shatunov and Boeve, {Bradley F} and Boxer, {Adam L} and Mariely DeJesus-Hernandez and Mackenzie, {Ian R} and Adrian Waite and Nigel Williams and Morris, {Huw R} and Javier Sim{\'o}n-S{\'a}nchez and {van Swieten}, {John C} and Peter Heutink and Gabriella Restagno and Gabriele Mora and Morrison, {Karen E} and Shaw, {Pamela J} and Rollinson, {Pamela Sara} and Ammar Al-Chalabi and Rosa Rademakers and Stuart Pickering-Brown and Orrell, {Richard W} and Nalls, {Michael A} and John Hardy",

year = "2012",

month = jan,

doi = "10.1016/j.neurobiolaging.2011.08.005",

language = "English",

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journal = "Neurobiology of Aging",

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Mok, K, Traynor, BJ, Schymick, J, Tienari, PJ, Laaksovirta, H, Peuralinna, T, Myllykangas, L, Chiò, A, Shatunov, A, Boeve, BF, Boxer, AL, DeJesus-Hernandez, M, Mackenzie, IR, Waite, A, Williams, N, Morris, HR, Simón-Sánchez, J, van Swieten, JC, Heutink, P, Restagno, G, Mora, G, Morrison, KE, Shaw, PJ, Rollinson, PS, Al-Chalabi, A, Rademakers, R, Pickering-Brown, S, Orrell, RW, Nalls, MA & Hardy, J 2012, 'Chromosome 9 ALS and FTD locus is probably derived from a single founder', Neurobiology of Aging, vol. 33, no. 1, pp. 209.e3-8. https://doi.org/10.1016/j.neurobiolaging.2011.08.005

TY - JOUR

T1 - Chromosome 9 ALS and FTD locus is probably derived from a single founder

AU - Mok, Kin

AU - Traynor, Bryan J

AU - Schymick, Jennifer

AU - Tienari, Pentti J

AU - Laaksovirta, Hannu

AU - Peuralinna, Terhi

AU - Myllykangas, Liisa

AU - Chiò, Adriano

AU - Shatunov, Aleksey

AU - Boeve, Bradley F

AU - Boxer, Adam L

AU - DeJesus-Hernandez, Mariely

AU - Mackenzie, Ian R

AU - Waite, Adrian

AU - Williams, Nigel

AU - Morris, Huw R

AU - Simón-Sánchez, Javier

AU - van Swieten, John C

AU - Heutink, Peter

AU - Restagno, Gabriella

AU - Mora, Gabriele

AU - Morrison, Karen E

AU - Shaw, Pamela J

AU - Rollinson, Pamela Sara

AU - Al-Chalabi, Ammar

AU - Rademakers, Rosa

AU - Pickering-Brown, Stuart

AU - Orrell, Richard W

AU - Nalls, Michael A

AU - Hardy, John

PY - 2012/1

Y1 - 2012/1

N2 - 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.

AB - 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.

KW - Amyotrophic Lateral Sclerosis

KW - Chromosomes, Human, Pair 9

KW - Finland

KW - Frontotemporal Dementia

KW - Genetic Linkage

KW - Genome-Wide Association Study

KW - Haplotypes

KW - Humans

KW - Polymorphism, Single Nucleotide

KW - Journal Article

KW - Meta-Analysis

KW - Research Support, N.I.H., Extramural

KW - Research Support, N.I.H., Intramural

KW - Research Support, Non-U.S. Gov't

U2 - 10.1016/j.neurobiolaging.2011.08.005

DO - 10.1016/j.neurobiolaging.2011.08.005

M3 - Article

C2 - 21925771

SN - 0197-4580

VL - 33

SP - 209.e3-8

JO - Neurobiology of Aging

JF - Neurobiology of Aging

IS - 1

ER -

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

Abstract

Keywords

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