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Title: Replication analysis identifies TYK2 as a multiple sclerosis susceptibility factor
Authors: Ban, Maria ×
Goris, An
Lorentzen, Aslaug R
Baker, Amie
Mihalova, Tania
Ingram, Gillian
Booth, David R
Heard, Robert N
Stewart, Graeme J
Bogaert, Elke
Dubois, Bénédicte
Harbo, Hanne F
Celius, Elisabeth G
Spurkland, Anne
Strange, Richard
Hawkins, Clive
Robertson, Neil P
Dudbridge, Frank
Wason, James
De Jager, Philip L
Hafler, David
Rioux, John D
Ivinson, Adrian J
McCauley, Jacob L
Pericak-Vance, Margaret
Oksenberg, Jorge R
Hauser, Stephen L
Sexton, David
Haines, Jonathan
Sawcer, Stephen
Compston, Alastair
Wellcome Trust Case Control Consortium #
Issue Date: Oct-2009
Publisher: Nature publishing group
Series Title: European journal of human genetics vol:17 issue:10 pages:1309-1313
Abstract: In a recent genome-wide association study (GWAS) based on 12 374 non-synonymous single nucleotide polymorphisms we identified a number of candidate multiple sclerosis susceptibility genes. Here, we describe the extended analysis of 17 of these loci undertaken using an additional 4234 patients, 2983 controls and 2053 trio families. In the final analysis combining all available data, we found that evidence for association was substantially increased for one of the 17 loci, rs34536443 from the tyrosine kinase 2 (TYK2) gene (P = 2.7 x 10(-6), odds ratio 1.32 (1.17-1.47)). This single nucleotide polymorphism results in an amino acid substitution (proline to alanine) in the kinase domain of TYK2, which is predicted to influence the levels of phosphorylation and therefore activity of the protein and so is likely to have a functional role in multiple sclerosis. European Journal of Human Genetics (2009) 17, 1309-1313; doi: 10.1038/ejhg.2009.41; published online 18 March 2009
ISSN: 1018-4813
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Research Group Experimental Neurology
Laboratory for Neuroimmunology
Laboratory for Neurobiology (Vesalius Research Center)
× corresponding author
# (joint) last author

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