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A rare variant of the TYK2 gene is confirmed to be associated with multiple sclerosis
- Source :
- European Journal of Human Genetics. 18:502-504
- Publication Year :
- 2009
- Publisher :
- Springer Science and Business Media LLC, 2009.
-
Abstract
- A rare functional variant within the TYK2 gene (rs34536443) has been reported as protective in multiple sclerosis (MS) in recent studies. However, because of the low frequency of the minor allele (minor allele frequency=0.04), genome-wide significant association has been hard to establish. We genotyped 5429 Nordic MS cases and 6167 healthy controls for this TYK2 non-synonymous single-nucleotide polymorphism (ns-SNP), and combined the Nordic genotype data with raw genotypes from previous studies. The combined Nordic analysis showed significant association with MS (P=5 x 10(-4), odds ratio (OR) 0.78), and by mega-analysis of 10 642 MS patients, 10 620 controls and 2110 MS trios, the association at genome-wide significance level (P=5.08 x 10(-9), OR 0.77) was shown.
- Subjects :
- Multiple Sclerosis
Genotype
Short Report
Genome-wide association study
Single-nucleotide polymorphism
Biology
Polymorphism, Single Nucleotide
03 medical and health sciences
0302 clinical medicine
Gene Frequency
Polymorphism (computer science)
Genetics
Humans
Genetic Predisposition to Disease
Rare functional variant
Allele frequency
Genetics (clinical)
030304 developmental biology
TYK2 Kinase
0303 health sciences
Odds ratio
Minor allele frequency
Case-Control Studies
Immunology
030217 neurology & neurosurgery
Genome-Wide Association Study
Subjects
Details
- ISSN :
- 14765438 and 10184813
- Volume :
- 18
- Database :
- OpenAIRE
- Journal :
- European Journal of Human Genetics
- Accession number :
- edsair.doi.dedup.....3d0205ecf88b521cc9655a0c9b4d56e5