Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20

M. Bahlo; D.R. Booth; S.A. Broadley; M.A. Brown; S.J. Foote; L.R. Griffiths; T.J. Kilpatrick; J. Lechner-Scott; P. Moscato; V.M. Perreau; J.P. Rubio; R.J. Scott; J. Stankovich; G.J. Stewart; B.V. Taylor; J. Wiley; G. Clarke; M.B. Cox; P.A. Csurhes; P. Danoy; K. Drysdale; J. Field; J.M. Greer; P. Guru; J. Hadler; B.J. McMorran; C.J. Jensen; L.J. Johnson; R. McCallum; M. Merriman; T. Merriman; K. Pryce; L. Tajouri; E.J. Wilkins; B.L. Browning; S.R. Browning; D. Perera; S. Broadley; H. Butzkueven; W.M. Carroll; C. Chapman; A.G. Kermode; M. Marriott; D. Mason; R.N. Heard; M.P. Pender; M. Slee; N. Tubridy; E. Willoughby

doi:10.1038/ng.396

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Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20

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Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20

M. Bahlo, D.R. Booth, S.A. Broadley, M.A. Brown, S.J. Foote, L.R. Griffiths, T.J. Kilpatrick, J. Lechner-Scott, P. Moscato, V.M. Perreau, …

Nature Genetics, Vol.41(7), pp.824-828

2009

DOI: https://doi.org/10.1038/ng.396

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Abstract

To identify multiple sclerosis (MS) susceptibility loci, we conducted a genome-wide association study (GWAS) in 1,618 cases and used shared data for 3,413 controls. We performed replication in an independent set of 2,256 cases and 2,310 controls, for a total of 3,874 cases and 5,723 controls. We identified risk-associated SNPs on chromosome 12q13–14 (rs703842, P = 5.4 times 10-11; rs10876994, P = 2.7 times 10-10; rs12368653, P = 1.0 times 10-7) and upstream of CD40 on chromosome 20q13 (rs6074022, P = 1.3 times 10-7; rs1569723, P = 2.9 times 10-7). Both loci are also associated with other autoimmune diseases1, 2, 3, 4, 5. We also replicated several known MS associations (HLA-DR15, P = 7.0 times 10-184; CD58, P = 9.6 times 10-8; EVI5-RPL5, P = 2.5 times 10-6; IL2RA, P = 7.4 times 10-6; CLEC16A, P = 1.1 times 10-4; IL7R, P = 1.3 times 10-3; TYK2, P = 3.5 times 10-3) and observed a statistical interaction between SNPs in EVI5-RPL5 and HLA-DR15 (P = 0.001).

Details

Title: Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20
Authors/Creators: M. Bahlo (Author/Creator) - Walter and Eliza Hall Institute of Medical Research
D.R. Booth (Author/Creator) - Millennium Institute
S.A. Broadley (Author/Creator) - Griffith University
M.A. Brown (Author/Creator) - The University of Queensland
S.J. Foote (Author/Creator) - University of Tasmania
L.R. Griffiths (Author/Creator) - Griffith University
T.J. Kilpatrick (Author/Creator) - The Royal Melbourne Hospital
J. Lechner-Scott (Author/Creator) - John Hunter Hospital
P. Moscato (Author/Creator) - University of Newcastle Australia
V.M. Perreau (Author/Creator) - The University of Melbourne
J.P. Rubio (Author/Creator) - The University of Melbourne
R.J. Scott (Author/Creator) - John Hunter Hospital
J. Stankovich (Author/Creator) - University of Tasmania
G.J. Stewart (Author/Creator) - Millennium Institute
B.V. Taylor (Author/Creator) - University of Tasmania
J. Wiley (Author/Creator) - Nepean Hospital
M.A. Brown (Author/Creator) - The University of Queensland
D.R. Booth (Author/Creator) - Millennium Institute
G. Clarke (Author/Creator) - University of Otago
M.B. Cox (Author/Creator) - University of Newcastle Australia
P.A. Csurhes (Author/Creator) - The University of Queensland
P. Danoy (Author/Creator) - The University of Queensland
K. Drysdale (Author/Creator) - University of Tasmania
J. Field (Author/Creator) - The University of Melbourne
S.J. Foote (Author/Creator) - University of Tasmania
J.M. Greer (Author/Creator) - The University of Queensland
L.R. Griffiths (Author/Creator) - Griffith University
P. Guru (Author/Creator) - University of Tasmania
J. Hadler (Author/Creator) - The University of Queensland
B.J. McMorran (Author/Creator) - University of Tasmania
C.J. Jensen (Author/Creator) - The University of Melbourne
L.J. Johnson (Author/Creator) - The University of Melbourne
R. McCallum (Author/Creator) - University of Otago
M. Merriman (Author/Creator) - University of Otago
T. Merriman (Author/Creator) - University of Otago
K. Pryce (Author/Creator) - The University of Queensland
R.J. Scott (Author/Creator) - John Hunter Hospital
G.J. Stewart (Author/Creator) - Millennium Institute
L. Tajouri (Author/Creator) - Griffith University
E.J. Wilkins (Author/Creator) - The University of Melbourne
J.P. Rubio (Author/Creator) - The University of Melbourne
M. Bahlo (Author/Creator) - Walter and Eliza Hall Institute of Medical Research
M.A. Brown (Author/Creator) - The University of Queensland
B.L. Browning (Author/Creator) - University of Auckland
S.R. Browning (Author/Creator) - University of Auckland
D. Perera (Author/Creator) - University of Tasmania
J.P. Rubio (Author/Creator) - The University of Melbourne
J. Stankovich (Author/Creator) - University of Tasmania
S. Broadley (Author/Creator) - Griffith University
H. Butzkueven (Author/Creator) - Box Hill Hospital
W.M. Carroll (Author/Creator) - Sir Charles Gairdner Hospital
C. Chapman (Author/Creator) - Geelong Hospital
A.G. Kermode (Author/Creator) - Sir Charles Gairdner Hospital
M. Marriott (Author/Creator) - The Royal Melbourne Hospital
D. Mason (Author/Creator) - Canterbury District Health Board
R.N. Heard (Author/Creator) - Millennium Institute
M.P. Pender (Author/Creator) - Royal Brisbane and Women's Hospital
M. Slee (Author/Creator) - Flinders University
N. Tubridy (Author/Creator) - University College Dublin
J. Lechner-Scott (Author/Creator) - John Hunter Hospital
B.V. Taylor (Author/Creator) - University of Tasmania
E. Willoughby (Author/Creator) - Greenlane Clinical Centre
T.J. Kilpatrick (Author/Creator) - The Royal Melbourne Hospital
Publication Details: Nature Genetics, Vol.41(7), pp.824-828
Publisher: Nature Publishing Group
Identifiers: 991005541199907891
Copyright: © 2015 Macmillan Publishers Limited
Murdoch Affiliation: Murdoch University
Language: English
Resource Type: Journal article

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Collaboration types: Domestic collaboration; International collaboration
Citation topics: 1 Clinical & Life Sciences; 1.203 Neuromuscular Disorders; 1.203.147 Multiple Sclerosis
Web Of Science research areas: Genetics & Heredity
ESI research areas: Molecular Biology & Genetics