Association Between Tumor Necrosis Factor Alpha Gene Polymorphism (-376) and Multiple Sclerosis in Turkish Population

Abstract

The purpose of this study is the detection of the association between MS and TNF-A gene promoter -376 polymorphism.In this study, 100 MS patients and 100 healthy controls were examined. Firstly, genomic DNA was extracted from human leukocyte nuclei isolated from whole blood by standard methods and then the promoter region of TNF-A including -376 polymorphism was amplified with PCR method. Secondly, the PCR products were digested with a digestion enzyme and genotype distributions and allele frequencies were determined. A strong association between MS and TNF-A -376 genotype distribution was detected        (p= 0,010). At the same time TNF-A -376 allele frequency was showed an association with MS (p=0,011), but this association indicates that GA genotype and A allele have protective effects. There is not an association between TNF-A -376 polymorphism and MS progression, but GA genotype and A allele may be the protective factors in the healthy people.

Keywords

• Promoter,Polymorphism,Tumor Necrosis Factor Alpha (TNF-A),Multiple Sclerosis (MS)

Türk Popülasyonu’nda Tümor Nekroz Faktör Alfa Gen Polimorfizmi (-376) ile Multipl Skleroz Arasındaki İlişki

Abstract

Bu araştırmanın amacı Multipl Skleroz (MS) ile Tümor Nekroz Faktör-Alfa (TNF-A) geninin promotör bölgesindeki (-376) gen polimorfizmi arasındaki ilişkininin ortaya çıkarılmasıdır. Yapılan çalışmada 100 MS hastası ve 100 sağlıklı kontrol olmak üzere toplam 200 birey incelenmiştir. Bunun için ilk olarak kandan DNA izolasyonu yapılmış ve elde edilen DNA’lardan TNF-A geninin promoter -376 bölgesi polimeraz zincir reaksiyonu yöntemi ile çoğaltılmıştır. İkinci aşamada ise elde edilen PCR ürünleri Tsp50 enzimi ile kesilerek genotip dağılımları ve allel frekansları incelenmiştir. Türk popülasyonunda MS hastalığı ile TNF-A    -376 polimorfizminin genotip dağılımı arasında kuvvetli bir ilişki bulunmuştur (p=0,010). Aynı zamanda TNF-A -376 polimorfizminin allel frekansı MS hastalığıyla bir ilişki göstermektedir (p=0.011). Bu ilişkide TNF-A -376 polimorfizminin heterozigot genotip G/A olduğu ve A allelinin koruyucu etkisi olduğu görülmüştür. TNF-A -376 polimorfizmi ile MS arasında hastalığın risk oluşturması açısından herhangi bir ilişki bulunmamıştır ancak G/A genotipi ve A allelinin sağlıklı kişilerde koruyucu etkisi olabildiği düşünülmektedir.  

Keywords

• Promoter,Polimorfizm,Tümor Nekroz Faktör Alfa (TNF-A)

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