Türk popülasyonunda glutatyon S-transferaz A1 rs3957357 polimorfizm sıklıkları

Amaç: Faz II enzimlerinin önemli bir enzim grubu olan glutatyon-S-transferazlar (GST), endojen ve eksojen bileşiklerin detoksifikasyonunda ve metabolizmasında önemli bir rol oynar. Bu çalışmanın amacı, sağlıklı bir Türk popülasyonunda GSTA1 -69C>T (rs3957357) polimorfizminin frekanslarının dağılımını belirlemektir. Ayrıca, tespit edilen frekansları çeşitli popülasyonlardaki frekanslarla karşılaştırmaktı. Yöntemler: Polimeraz zincir reaksiyonu ve restriksiyon parça uzunluk polimorfizm yöntemleri, 105 sağlıklı Türk bireylerin DNA örneklerinde GSTA1 -69C>T polimorfizmini analiz etmek için kullanıldı. Bulgular: GSTA1 CC, CT ve TT genotip frekanslarının dağılımı sırasıyla % 32.4, 48.6 ve 19.0 olup allel frekansları C alleli için % 56.7 ve T alleli için % 43.3 idi. Elde edilen bulgular çeşitli popülasyonların sonuçlarıyla karşılaştırıldı. GSTA1 -69C>T polimorfizminin sıklıkları Amerikan-Afrikan popülasyonuna ve Beyaz kökenli popülasyonlara benzerdir, ancak Asya kökenli popülasyonlar için bildirilen sıklıklardan önemli ölçüde farklıydı. Sonuç: Bilindiği kadarıyla Türk bireylerinde GSTA1 -69C> T polimorfizminin frekanslarını ortaya koyan ilk çalışmadır. Mevcut çalışmanın bulguları, GSTA1 -69C> T polimorfizminin kanser gibi çeşitli hastalıklara yatkınlık üzerindeki rolünü araştıran daha ileri çalışmalar için bakış açısı sağlayabilir ve ayrıca bu tür çalışmalar için kontrol grubu olarak kullanılabilir. Bunların yanı sıra, bu çalışma epidemiyolojik ve toksikogenetik araştırmalara da katkı sağlayabilir.

Frequencies of glutathione S-transferase A1 rs3957357 polymorphism in a Turkish population

Background/Aim: Glutathione-S-transferases (GSTs), a major group of phase II enzymes, play a significant role in the detoxification and metabolism of endogenous and exogenous compounds. The objective of the survey was to identify the distribution of genotype and allele frequencies of GSTA1 -69C>T (rs3957357) polymorphism in a healthy Turkish population and compare the determined frequencies with those in various populations. Methods: Polymerase chain reaction and restriction fragment length polymorphism methods were used to analyze GSTA1 -69C>T polymorphism in DNA samples of 105 healthy Turkish individuals. Results: The distribution of GSTA1 CC, CT, and TT genotype frequencies were 32.4%, 48.6% and 19.0%, respectively while the allele frequencies were 56.7% for C allele and 43.3% for T allele. The findings obtained were compared with the results of various populations. The frequencies of GSTA1 -69C>T polymorphism were similar to those of the African American population and the populations with White ancestry, but significantly different from those reported for the populations with Asian ancestry. Conclusion: To the best of our knowledge, this is the first study to present the frequencies of the GSTA1 -69C>T polymorphism among Turkish individuals. The findings of the current study may provide a perspective for further studies exploring the role of GSTA1 -69C>T polymorphism on predisposition to diverse illnesses such as cancer and may be used as a control group for such studies. In addition, this study might contribute to epidemiological and toxicogenetic investigations.

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