Investigation of the 1249G>A Genetic Variation of ABCC2 Drug Transporter Gene in the Turkish Population

Objectives: ATP binding cassette (ABC) transporters are a major superfamily of drug transporters and provide active transport of diverse substrates across cell membranes of several cell types. Genetic variations that affect function in ABCC2 gene may alter therapeutic outcome and the risk of toxicity to substrate drugs. The goal of the current survey was to ascertain the allele and genotype frequencies of ABCC2 1249G>A polymorphism in a Turkish population and to compare the findings obtained with the frequencies of previously reported populations. Methods: The frequencies of the ABCC2 1249G>A gene polymorphism were determined in 101 healthy Turkish individuals using polymerase chain reaction-restriction fragment length polymorphism methods. Results: The frequencies of GG, GA and AA genotypes were 67.3%, 28.7% and 4.0%, respectively. The frequencies were 81.7% for G allele and 18.3% for A allele. The frequencies of genotypes were in concurrence with Hardy-Weinberg Equilibrium. Significant distinctions were observed in the comparison of the study data with the results of some populations of East and South Asian ancestries. Conclusions: The current study presents the distribution of genotype and allele frequencies of ABCC2 1249G>A polymorphism in the Turkish population. As far as is known, this is the first study about the frequencies of the ABCC2 1249G>A polymorphism in the Turkish population. This study may ensure valuable information for evaluating inter individual differences in drug response, estimating adverse reactions and improving disease management, briefly, it can contribute to pharmacogenetic and epidemiological studies.

Türk Popülasyonunda ABCC2 İlaç Taşıyıcı Genin 1249G>A Genetik Varyasyonunun Araştırılması

Amaç: ATP bağlayıcı kaset (ABC) taşıyıcıları, ilaç taşıyıcılarının önemli bir süper ailesidir ve farklı hücre tiplerinin hücre zarları boyunca çeşitli substratların aktif taşınmasını sağlar. ABCC2 genindeki işlevi etkileyen genetik varyasyonlar, terapötik sonucu ve substrat ilaçlara olan toksisite riskini değiştirebilmektedir. Bu araştırmanın amacı, Türk popülasyonunda ABCC2 1249G>A gen polimorfizminin alel ve genotip frekanslarını tespit etmek ve elde edilen bulguları daha önce bildirilen popülasyonların sonuçlarıyla karşılaştırmaktı. Yöntemler: ABCC2 1249G>A gen polimorfizminin frekansları 101 sağlıklı Türk bireyinde polimeraz zincir reaksiyon restriksiyon fragman uzunluk polimorfizmi yöntemleri kullanılarak belirlendi. Bulgular: GG, GA ve AA genotiplerinin frekansları sırasıyla % 67.3,% 28.7 ve % 4.0 idi. G alelin frekansı % 81.7 ve A alel frekansı % 18.3 idi. Genotip frekansları Hardy-Weinberg dengesi ile uyumludur. Çalışmanın sonuçları, Doğu ve Güney Asya kökenli bazı popülasyonlarının sonuçlarıyla karşılaştırıldığında önemli farklılıklar olduğu gözlenmiştir. Sonuç: Bu çalışma, Türk popülasyonunda ABCC2 1249G>A gen polimorfizminin genotip ve allel frekanslarının dağılımını sunmaktadır. Bilindiği kadarıyla, bu Türk popülasyonunda ABCC2 1249G>A polimorfizminin frekansları ile ilgili ilk çalışmadır. Bu çalışma, ilaç yanıtındaki bireyler arası farklılıkları değerlendirmek, advers reaksiyonları tahmin etmek ve hastalık yönetimini iyileştirmek için değerli bilgiler sağlayabilir, kısaca, farmakogenetik ve epidemiyolojik çalışmalara katkı sağlayabilir.

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