Journal
EUROPEAN JOURNAL OF HUMAN GENETICS
Volume 17, Issue 10, Pages 1309-1313Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/ejhg.2009.41
Keywords
multiple sclerosis; TYK2
Funding
- Medical Research Council [G0700061, G0000934]
- National Institute of Health [NS 049477-01A1]
- Wellcome Trust [068545/Z/02, 076113]
- Research Foundation Flanders (FWO-Vlaanderen)
- The Research Council of Norway [166005/V5]
- Ulleval University Hospital Scientific Advisory Council
- Odd Fellow MS society
- MRC [MC_U105292688, G0000934, G0600329, G0700061] Funding Source: UKRI
- Medical Research Council [G0700061, G0600329, MC_U105292688, G0000934] Funding Source: researchfish
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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. European Journal of Human Genetics (2009) 17, 1309-1313; doi: 10.1038/ejhg.2009.41; published online 18 March 2009
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