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Replication analysis identifies TYK2 as a multiple sclerosis susceptibility factor

Lookup NU author(s): Professor James WasonORCiD

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Abstract

In a recent genome-wide association study (GWAS) based on 12374 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 × 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.

Publication metadata

Author(s): Ban M, Goris A, Lorentzen AR, Baker A, Mihalova T, Ingram G, Booth DR, Heard RN, Stewart GJ, Bogaert E, Dubois B, Harbo HF, Celius EG, Spurkland A, Strange R, Hawkins C, Robertson NP, Dudbridge F, Wason J, De Jager PL, Hafler D, Rioux JD, Ivinson AJ, McCauley JL, Pericak-Vance M, Oksenberg JR, Hauser SL, Sexton D, Haines J, Sawcer S, The Wellcome Trust Case-Control Consortium (WTCCC), Compston A

Publication type: Article

Publication status: Published

Journal: European Journal of Human Genetics

Year: 2009

Volume: 17

Issue: 10

Pages: 1309-1313

Online publication date: 18/03/2009

ISSN (print): 1018-4813

ISSN (electronic): 1476-5438

Publisher: Nature Publishing Group

URL: https://doi.org/10.1038/ejhg.2009.41

DOI: 10.1038/ejhg.2009.41

PubMed id: 19293837

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