دورية أكاديمية
A rare variant of the TYK2 gene is confirmed to be associated with multiple sclerosis.
| العنوان: | A rare variant of the TYK2 gene is confirmed to be associated with multiple sclerosis. |
|---|---|
| المؤلفون: | 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 |
| بيانات النشر: | Springer Nature [academic journals on nature.com] |
| سنة النشر: | 2010 |
| المجموعة: | London School of Hygiene & Tropical Medicine: LSHTM Research Online |
| الوصف: | 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. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | unknown |
| العلاقة: | 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; +12 more. 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; (2010) A rare variant of the TYK2 gene is confirmed to be associated with multiple sclerosis. European journal of human genetics, 18 (4). pp. 502-504. ISSN 1018-4813 DOI: https://doi.org/10.1038/ejhg.2009.195Test |
| الإتاحة: | https://doi.org/10.1038/ejhg.2009.195Test https://researchonline.lshtm.ac.uk/id/eprint/3684Test/ |
| رقم الانضمام: | edsbas.139ACF93 |
| قاعدة البيانات: | BASE |
| الوصف غير متاح. |