Elena VIKTOROVA, Gülnaz KORYTINA, Olga KOCHETOVA, Leysan AKHMADISHIMA, Tatyana VİCTOROVA

Polymorphisms of cytochrome P450 genes in three ethnic groups from Russia

Amaç: Başkurdistan Cumhuriyeti’nde (Rusya) üç etnik grubu (Rus, Tatar, Başkir) temsil eden bir örneklemde en yaygın görülen allelik varyantlar olan CYP1A1, CYP1A2, CYP1B1, CYP2C9, CYP2E1, CYP2F1, CYP2J2 and CYP2S1’in prevalansını belirlemek ve bulguları diğer popülasyonlar için var olan yayınlanmış veriler ile karşılaştırmak. Materyal ve Metotlar: Üç etnik grubu temsil eden birbiri ile ilişkisiz sağlıklı kişilerden alınan 742 DNA örneğinde CYP genotipleri belirlendi. PCR-RLFP yöntemi kullanılarak CYP gen polimorfizmleri incelendi. Bulgular: CYP1A1 (rs1048943, rs4646903), CYP1A2 (rs762551), CYP2E1 (rs2031920) allel, genotip ve haplotip frekanslarının analizi farklı etnik kökenlere sahip Başkurdistan Cumhuriyeti sağlıklı vatandaşları arasında anlamlı farklılıklar olduğunu ortaya çıkardı. CYP1A2 (rs35694136), CYP1B1 (rs1056836), CYP2C9 (rs1799853, rs1057910), CYP2F1 (rs11399890), CYP2J2 (rs890293), CYP2S1 (rs34971233, rs338583) genlerinin allel ve genotip frekans dağılımı Rus, Tatar ve Başkirler arasında benzerdi. Dünyadaki farklı popülasyonlara kıyasla Başkurdistan Cumhuriyeti’ndeki etnik gruplar arasında CYP genleri allel frekans dağılım paternlerinin analizi yapıldı. Sonuç: İlişkilendirme ve farmakogenetik çalışmalarında Başkurdistan Cumhuriyeti’ndeki etnik gruplarda CYP genlerinin kendine özgü allel frekans dağılımı dikkate alınmalıdır. Bu araştırmanın sonuçları ilaç yanıtının, kansere ve kompleks hastalıklara yatkınlığın genetik zeminini ortaya çıkarmada ve ayrıca bölgemizde çevresel kirleticilerin toksik potansiyellerini belirlemede çok yararlı olacaktır.

Rusya’da üç etnik grupta sitokrom P450 gen polimorfizmleri

Objective: To determine the prevalence of the most common allelic variants of CYP1A1, CYP1A2, CYP1B1, CYP2C9, CYP2E1, CYP2F1, CYP2J2 and CYP2S1 in a representative sample of the three ethnic groups (Russians, Tatars and Bashkirs) from Republic of Bashkortostan (Russia), and compare the results with existing data published for other populations. Material and Methods: CYPs genotypes were determined in 742 DNA samples of healthy unrelated individuals representative of three ethnic groups. The CYPs gene polymorphisms were examined using the PCR-RLFP method. Results: Analysis of the CYP1A1 (rs1048943, rs4646903), CYP1A2 (rs762551), CYP2E1 (rs2031920) allele, genotype and haplotype frequencies revealed significant differences among healthy residents of the Republic of Bashkortostan of different ethnicities. Distribution of allele and genotype frequencies of CYP1A2 (rs35694136), CYP1B1 (rs1056836), CYP2C9 (rs1799853, rs1057910), CYP2F1 (rs11399890), CYP2J2 (rs890293), CYP2S1 (rs34971233, rs338583) genes were similar in Russians, Tatars, and Bashkirs. Analysis of the CYPs genes allele frequency distribution patterns among the ethnic groups from the Republic of Bashkortostan in comparison with the different populations worldwide was conducted. Conclusion: The peculiarities of the allele frequency distribution of CYPs genes in the ethnic groups of the Republic of Bashkortostan should be taken into consideration in association and pharmacogenetic studies. The results of the present investigation will be of great help in elucidating the genetic background of drug response, susceptibility to cancer and complex diseases, as well as in determining the toxic potentials of environmental pollutants in our region.

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