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Yıl:2020; Cilt: 57; Sayı: 4>> Özet
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Nöropsikiyatri Arşivi; 2020;57(4):280-282
IL-7RA T244I Polimorfizminin Türk Toplumunda Multipl Skleroz Risk Faktörü Olarak Değerlendirilmesi
MA Ünsal,NY Manukyan, N Işık, GS Direskeneli
Sultan Abdülhamid Han Training Hospital, İstanbul
Amaç: IL-7RA’nın T244I varyantı olan rs6897932, multipl skleroz (MS) gelişme riski ile ilişkili bulunan ilk polimorfizmlerden biridir. Birçok çalışmada MS ve bu polimorfizmin birlikteliği kanıtlanmış olmakla birlikte, bazı çalışmalar bu ilişkiyi doğrulayamamıştır. Çalışmaların tutarsız sonuçları, hastalık gelişiminde bu polimorfizmin rolünün etnisite ile ilişkili olduğunu düşündürmektedir. Yöntem: Biz Türkiye’de, geniş bir MS hasta grubunda ve sağlıklı kontrollerde rs6897932 polimorfizmini araştırdık. Bulgular: Çalışmamızda, IL-7RA rs6897932 polimorfizmindeki genotip frekanslarında anlamlı bir fark bulunmadı. Hasta ve kontrol grupları arasında C ve T allelleri arasında anlamlı bir fark yoktu. Tartışma: Bu çalışma, Türkiye’de yaşayan MS hastaları üzerinde rs6897932 polimorfizmi ile hastalık ilişkisini değerlendiren ilk araştırmadır.
Assessment of IL-7RA T244I Polymorphism as a Risk Factor of Multiple Sclerosis in Turkish Population
Introduction: The T244I variant of the IL-7RA gene, rs6897932, is one of the first polymorphisms found to be associated with the development of multiple sclerosis (MS). Although several studies provided evidence for the association of MS and this variant, other studies could not confirm this result. These inconsistent results suggest that the role of this polymorphism in the development of disease is associated with ethnicity. Methods: We investigated rs6897932 polymorphisms in a large cohort of patients with MS and healthy controls in a turkish population. Results: In our study, there were no significant differences in genotype frequencies in the IL-7RA rs6897932 polymorphism and no significant difference between C and T alleles in patients with MS and controls. Conclusion: This study is the first to evaluate the risk of the rs6897932 polymorphism in turkish patients with MS.

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