Replication analysis identifies TYK2 as a multiple sclerosis susceptibility factor

Ban, Maria,, Goris, An, Lorentzen, Aslaug, Baker, Amie, Mihalova, Tania, Ingram, Gillian, Booth, David, Heard, Robert, Stewart, Graeme, Bogaert, Elke, et al, Wellcome Trust Case Control Consortium, Bradbury, Linda and Brown, Matthew (2009) Replication analysis identifies TYK2 as a multiple sclerosis susceptibility factor. European Journal of Human Genetics, 17 10: 1309-1313. doi:10.1038/ejhg.2009.41

Author Ban, Maria,
Goris, An
Lorentzen, Aslaug
Baker, Amie
Mihalova, Tania
Ingram, Gillian
Booth, David
Heard, Robert
Stewart, Graeme
Bogaert, Elke
et al
Wellcome Trust Case Control Consortium
Bradbury, Linda
Brown, Matthew
Title Replication analysis identifies TYK2 as a multiple sclerosis susceptibility factor
Journal name European Journal of Human Genetics   Check publisher's open access policy
ISSN 1018-4813
Publication date 2009-10
Year available 2009
Sub-type Article (original research)
DOI 10.1038/ejhg.2009.41
Volume 17
Issue 10
Start page 1309
End page 1313
Total pages 5
Editor Gert-Jan B van Ommen
Place of publication United Kingdom
Publisher Nature Publishing Group
Collection year 2010
Language eng
Subject C1
970111 Expanding Knowledge in the Medical and Health Sciences
920116 Skeletal System and Disorders (incl. Arthritis)
110322 Rheumatology and Arthritis
060405 Gene Expression (incl. Microarray and other genome-wide approaches)
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 × 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.
Q-Index Code C1
Q-Index Status Confirmed Code

Document type: Journal Article
Sub-type: Article (original research)
Collections: 2010 Higher Education Research Data Collection
UQ Diamantina Institute Publications
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Created: Wed, 07 Apr 2010, 16:50:45 EST by Sarah Macaione on behalf of UQ Diamantina Institute