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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.

Original publication

DOI

10.1038/ejhg.2009.41

Type

Journal article

Journal

European journal of human genetics : EJHG

Publication Date

10/2009

Volume

17

Pages

1309 - 1313

Addresses

Department of Clinical Neuroscience, Addenbrooke's, Hospital, University of Cambridge, Cambridge, UK. mb531@medschl.cam.ac.uk

Keywords

Wellcome Trust Case-Control Consortium (WTCCC), Humans, Multiple Sclerosis, Genetic Predisposition to Disease, Odds Ratio, Genetic Techniques, Polymorphism, Genetic, Polymorphism, Single Nucleotide, Alleles, Genome, Human, Adult, Middle Aged, Family Health, TYK2 Kinase, Genome-Wide Association Study