Polymorphisms of Cytochrome P450 Genes in Three Ethnic Groups from Russia

Year 2012, Volume: 2012 Issue: 3, 252 - 260, 01.03.2012

Gülnaz Korytina Olga Kochetova Leysan Akhmadishina Elena Viktorova Tatyana Victorova

https://doi.org/10.5152/balkanmedj.2012.039

Abstract

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. Turkish Başlık: Rusya'da Üç Etnik Grupta Sitokrom P450 Gen Polimorfizmleri Anahtar Kelimeler: Farmakogenetik, genetik polimorfizm, Rusya'dan üç etnik grupta CYP varyantların etnik-ilişkili farkları 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.

Keywords

Pharmacogenetics, genetic polymorphism, ethnic-related differences CYPs variants in three ethnic groups from Russia

Polymorphisms of Cytochrome P450 Genes in Three Ethnic Groups from Russia

Abstract

References

• Nelson DR. The cytochrome p450 homepage. Hum Genomics 2009;4:59-65.
• Ingelman-Sundberg M. Human drug metabolising cytochrome P450 enzymes: properties and polymorphism. Naunyn Schmiedebergs Arch Pharmacol 2004;369:89-104. [CrossRef]
• Rodriguez-Antona C, Gomez A, Karlgren M, Sim SC, Ingelman- Sundberg M. Molecular genetics and epigenetics of the cytochrome P450 gene family and its relevance for cancer risk and treatment. Hum Genet 2010;127:1-17. [CrossRef]
• Hukkanen J, Pelkonen O, Hakkola J, Raunio H. Expression and regulation of xenobiotic-metabolizing cytochrome P450 (CYP) enzymes in human lung. Crit Rev Toxicol 2002;32:391-411. [CrossRef]
• Garte S, Gaspari L, Alexandrie AK, Ambrosone C, Autrup H, Autrup JL, et al. Metabolic gene polymorphism frequencies in control populations. Cancer Epidemiol Biomarkers Prev 2001;10:1239-48.
• Borinskaya SA, Khusnutdinova E. Ethnogenomics: history and geography. 2002; 1: 19-30 (in Russ.).
• Limborska SA, Khusnutdinova EK. Ethnogenomics of the peoples of the Volga-Ural’s region. Moscow: Nauka Publ. 2002; 250. (in Russ.).
• Bartsch H, Nair U, Risch A, Rojas M, Wikman H, Alexandrov K. Genetic polymorphism of CYP genes, alone or in combination, as a risk modifier of tobacco-related cancers. Cancer Epidemiol Biomarkers Prev 2000;9:3-28.
• Mathew C.C. The isolation of high molecular weight eucariotic DNA // Methods in molecular biology / Ed. Walker J.M. N.Y.; Haman press, 1984. -V.2. - P.31-4.
• Barrett JC, Fry B, Maller J, Daly MJ. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 2005;21:263- 5. [CrossRef]
• Saarikoski ST, Suitiala T, Holmila R, Impivaara O, Järvisalo J, Hirvonen A, et al. Identification of genetic polymorphisms of CYP2S1 in a Finnish Caucasian population. Mutat Res 2004;554:267-77. [CrossRef]
• Wang LD, Zheng S, Liu B, Zhou JX, Li YJ, Li JX. CYP1A1, GSTs and mEH polymorphisms and susceptibility to esophageal carcinoma: study of population from a high- incidence area in north China. World J Gastroenterol 2003;9:1394-7.
• Buch S, Kotekar A, Kawle D, Bhisey R. Polymorphisms at CYP and GST gene loci. Prevalence in the Indian population. Eur J Clin Pharmacol 2001;57:553-5.
• Murayama N, Soyama A, Saito Y, Nakajima Y, Komamura K, Ueno K, et al. Six novel nonsynonymous CYP1A2 gene polymorphism: catalytic activites of the naturally occurring variant enzymes. J Pharmacol Exp Ther 2004;308:300-06. [CrossRef]
• Sachse C, Bhambra U, Smith G, Lightfoot TJ, Barrett JH, Scollay J, et al. Polymorphisms in the cytochrome P450 CYP1A2 gene
• (CYP1A2) in colorectal cancer patients and controls: allele
• frequencies, linkage disequilibrium and influence on caffeine
• metabolism. Br J Clin Pharmacol 2003; 55:68-76. [CrossRef]
• Pavanello S, Pulliero A, Lupi S, Gregorio P, Clonfero E. Influence of the genetic polymorphism in the 5’-noncoding region of the CYP1A2 gene on CYP1A2 phenotype and urinary mutagenicity in smokers. Mutat Res 2005;10:59-66.
• Chida M, Yokoi T, Fukui T, Kinoshita M, Yokota J, Kamataki T. Detection of three genetic polymorphisms in the 5’-flanking region and intron 1 of human CYP1A2 in the Japanese population. Jpn J Cancer Res 1999;90,899-902. [CrossRef]
• Soyama A, Saito Y, Hanioka N, Maekawa K, Komamura K, Kamakura S, et al. Single nucleotide polymorphisms and haplotypes of CYP1A2 in a Japanese population. Drug Metab Pharmacokinet 2005;20,24-33. [CrossRef]
• Cornelis MC, El-Sohemy A, Campos H. Genetic polymorphism of CYP1A2 increases the risk of myocardial infarction. J Med Genet 2004;41,758-6. [CrossRef]
• Paracchini V, Raimondi S, Gram IT, Kang D, Kocabas NA, Kristensen VN, et al. Meta- and pooled analyses of the cytochrome P-450 1B1 Val432Leu polymorphism and breast cancer: a HuGE-GSEC review. Am J Epidemiol 2007;165,115-25. [CrossRef]
• Bailey LR, Roodi N, Dupont WD, Parl FF. Association of cytochrome P450 1B1 (CYP1B1) polymorphism with steroid receptor status in breast cancer. Cancer Res 1998;58,5038-41.
• Bethke L, Webb E, Sellick G, Rudd M, Penegar S, Withey L, et al. Polymorphisms in the cytochrome P450 genes CYP1A2, CYP1B1, CYP3A4, CYP3A5, CYP11A1, CYP17A1, CYP19A1 and colorectal cancer risk. BMC Cancer 2007;7:123. [CrossRef]
• Arvanitidis K, Ragia G, Iordanidou M, Kyriaki S, Xanthi A, Tavridou A, et al. Genetic polymorphisms of drug-metabolizing enzymes CYP2D6, CYP2C9, CYP2C19 and CYP3A5 in the Greek population. Fundam Clin Pharmacol 2007;21:419-26. [CrossRef]
• Bozina N, Granić P, Lalić Z, Tramisak I, Lovrić M, Stavljenić- Rukavina A. Genetic polymorphisms of cytochromes P450: CYP2C9, CYP2C19, and CYP2D6 in Croatian population. Croat Med J 2003; 44:425-8.
• Gaikovitch EA, Cascorbi I, Mrozikiewicz PM, Brockmöller J, Frötschl R, Köpke K, et al. Polymorphisms of drug-metabolizing enzymes CYP2C9, CYP2C19, CYP2D6, CYP1A1, NAT2 and of P-glycoprotein in a Russian population. Eur J Clin Pharmacol 2003;59:303-12. [CrossRef]
• Scordo MG, Pengo V, Spina E, Dahl ML, Gusella M, Padrini R. Influence of CYP2C9 and CYP2C19 genetic polymorphisms on warfarin maintenance dose and metabolic clearance. Clin Pharmacol Ther 2002;72:702-10. [CrossRef]
• Yasar U, Eliasson E, Dahl ML, Johansson I, Ingelman-Sundberg M, Sjöqvist F. Validation of methods for CYP2C9 genotyping: frequencies of mutant alleles in a Swedish population. Biochem Biophys Res Commun 1999;254:628-31. [CrossRef]
• Aynacioglu AS, Brockmöller J, Bauer S, Sachse C, Güzelbey P, Ongen Z, et al. Frequency of cytochrome P450 CYP2C9 variants in a Turkish population and functional relevance for phenytoin, Br J Clin Pharmacol 1999;48:409-15. [CrossRef]
• Kolble K. Regional mapping of short tandem repeats on human chromosome 10: Cytochrome P450 gene CYP2E, D10S196, D10S220, and D10S225. Genomics 1993;18:702-4. [CrossRef]
• Sarmanová J, Tynková L, Süsová S, Gut I, Soucek P. Genetic polymorphisms of biotransformation enzymes: allele frequencies in the population of the Czech Republic. Pharmacogenetics 2000;10:781. [CrossRef]
• Tang K, Li Y, Zhang Z, Gu Y, Xiong Y, Feng G, et al. The PstI/RsaI and DraI polymorphisms of CYP2E1 and head and neck cancer risk: a meta-analysis based on 21 case-control studies. BMC Cancer 2010;10:575. [CrossRef]
• Krishnakumar D, Gurusamy U, Dhandapani K, Surendiran A, Baghel R, Kukreti R, et al. Genetic polymorphisms of drug-metabolizing phase I enzymes CYP2E1, CYP2A6 and CYP3A5 in South Indian population. Fundam Clin Pharmacol 2012;26:295-306. [CrossRef]
• Tournel G, Cauffiez C, Billaut-Laden I, Allorge D, Chevalier D, Bonnifet F, et al. Molecular analysis of the CYP2F1 gene: identification of a frequent non-functional allelic variant. Mutat Res 2007;617:79-89. [CrossRef]
• Tournel G, Cauffiez C, Leclerc J, Billaut-Laden I, Allorge D, Chevalier D, et al. CYP2F1 genetic polymorphism: identification of interethnic variations. Xenobiotica 2007;37:1433-8. [CrossRef]
• Jiang JH, Li Z, Su G, Jia WH, Zhang RH, Yu XJ, et al. Study on genetic polymorphisms of CYP2F1 gene in Guangdong population of China. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2006;23:383-7.
• Polonikov AV, Ivanov VP, Solodilova MA, Khoroshaya IV, Kozhuhov MA, Panfilov VI. Promoter polymorphism G-50T of a human CYP2J2 epoxygenase gene is associated with common susceptibility to asthma. Chest 2007;132:120-6. [CrossRef]
• Spiecker M, Darius H, Hankeln T, Soufi M, Sattler AM, Schaefer JR, et al. Risk of coronary artery disease associated with polymorphism of the cytochrome P450 epoxygenase CYP2J2. Circulation 2004;110:2132-6. [CrossRef]
• Takeshita H, Tsubota E, Takatsuka H, Kunito T, Fujihara J. Cytochrome P450 2J2*7 polymorphisms in Japanese, Mongolians and Ovambos. Cell Biochem Funct 2008;26:813-6. [CrossRef]
• Lee SS, Jeong HE, Liu KH, Ryu JY, Moon T, Yoon CN, et al. Identification and functional characterization of novel CYP2J2 variants: G312R variant causes loss of enzyme catalytic activity. Pharmacogenet Genomics 2005;15:105-13. [CrossRef]
• Wang H, Jiang Y, Liu Y, Lin C, Cheng G, Chen X, et al. CYP2J2*7 single nucleotide polymorphism in a Chinese population. Clin Chim Acta 2006;365:125-8. [CrossRef]
• Rylander T, Neve EP, Ingelman-Sundberg M, Oscarson M. Identification and tissue distribution of the novel human cytochrome P450 2S1 (CYP2S1). Biochem Biophys Res Commun 2001;281:529-35. [CrossRef]
• Hoffman SM, Nelson DR, Keeney DS. Organization, structure and evolution of the CYP2 gene cluster on human chromosome 19. Pharmacogenetics 2001;11:687-98. [CrossRef]
• Gervasini G, Vizcaino S, Carrillo JA, Caballero MJ, Benitez J. The effect of CYP2J2, CYP3A4, CYP3A5 and the MDR1 polymorphisms and gender on the urinary excretion of the metabolites of the H-receptor antihistamine ebastine: a pilot study. Br J Clin Pharmacol 2006;62:177-86. [CrossRef]
• King LM, Gainer JV, David GL, Dai D, Goldstein JA, Brown NJ, et al. Single nucleotide polymorphisms in the CYP2J2 and CYP2C8 genes and the risk of hypertension. Pharmacogenet Genomics 2005;15:7-13. [CrossRef]