期刊
EUROPEAN JOURNAL OF HUMAN GENETICS
卷 17, 期 10, 页码 1309-1313出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/ejhg.2009.41
关键词
multiple sclerosis; TYK2
资金
- 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
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
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据