Article
A rare variant of the TYK2 gene is confirmed to be associated with multiple sclerosis.
European journal of human genetics : EJHG - 1 Apr 2010
Mero Inger-Lise, Lorentzen Aslaug R, Ban Maria, Smestad Cathrine, Celius Elisabeth G, Aarseth Jan H, Myhr Kjell-Morten, Link Jenny, Hillert Jan, Olsson Tomas, Kockum Ingrid, Masterman Thomas, Oturai Annette Bang, Søndergaard Helle Bach, Sellebjerg Finn, Saarela Janna, Kemppinen Anu, Elovaara Irina, Spurkland Anne, Dudbridge Frank, Lie Benedicte A, Harbo Hanne F
Abstract excerpt
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...
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