TY - JOUR
T1 - A rare variant of the TYK2 gene is confirmed to be associated with multiple sclerosis
AU - Mero, Inger-Lise
AU - Lorentzen, Aslaug R
AU - Ban, Maria
AU - Smestad, Cathrine
AU - Celius, Elisabeth G
AU - Aarseth, Jan H
AU - Myhr, Kjell-Morten
AU - Link, Jenny
AU - Hillert, Jan
AU - Olsson, Tomas
AU - Kockum, Ingrid
AU - Masterman, Thomas
AU - Oturai, Annette Bang
AU - Søndergaard, Helle Bach
AU - Sellebjerg, Finn
AU - Saarela, Janna
AU - Kemppinen, Anu
AU - Elovaara, Irina
AU - Spurkland, Anne
AU - Dudbridge, Frank
AU - Lie, Benedicte A
AU - Harbo, Hanne F
PY - 2010/4/1
Y1 - 2010/4/1
N2 - 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.
AB - 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.
U2 - http://dx.doi.org/10.1038/ejhg.2009.195
DO - http://dx.doi.org/10.1038/ejhg.2009.195
M3 - Journal article
VL - 18
SP - 502
EP - 504
JO - European Journal of Human Genetics
JF - European Journal of Human Genetics
SN - 1018-4813
IS - 4
ER -