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The Contribution of CYP2C Gene Subfamily Involved in Epoxygenase Pathway of Arachidonic Acids Metabolism to Hypertension Susceptibility in Russian Population

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The Contribution of CYP2C Gene Subfamily Involved in Epoxygenase Pathway of Arachidonic Acids Metabolism to Hypertension Susceptibility in Russian Population Clinical and Experimental Hypertension ISSN: 1064-1963 (Print) 1525-6006 (Online) Journal homepage: http://www.tandfonline.com/loi/iceh20 The contribution of CYP2C gene subfamily involved in epoxygenase pathway of arachidonic acids metabolism to hypertension susceptibility in Russian population Alexey Polonikov, Marina Bykanova, Irina Ponomarenko, Svetlana Sirotina, Anna Bocharova, Kseniya Vagaytseva, Vadim Stepanov, Mikhail Churnosov, Olga Bushueva, Maria Solodilova, Yaroslav Shvetsov & Vladimir Ivanov To cite this article: Alexey Polonikov, Marina Bykanova, Irina Ponomarenko, Svetlana Sirotina, Anna Bocharova, Kseniya Vagaytseva, Vadim Stepanov, Mikhail Churnosov, Olga Bushueva, Maria Solodilova, Yaroslav Shvetsov & Vladimir Ivanov (2017): The contribution of CYP2C gene subfamily involved in epoxygenase pathway of arachidonic acids metabolism to hypertension susceptibility in Russian population, Clinical and Experimental Hypertension, DOI: 10.1080/10641963.2016.1246562 To link to this article: http://dx.doi.org/10.1080/10641963.2016.1246562 Published online: 17 May 2017. Submit your article to this journal View related articles View Crossmark data Full Terms & Conditions of access and use can be found at http://www.tandfonline.com/action/journalInformation?journalCode=iceh20 Download by: [The UC San Diego Library] Date: 17 May 2017, At: 10:09 CLINICAL AND EXPERIMENTAL HYPERTENSION https://doi.org/10.1080/10641963.2016.1246562 The contribution of CYP2C gene subfamily involved in epoxygenase pathway of arachidonic acids metabolism to hypertension susceptibility in Russian population Alexey Polonikova,d, Marina Bykanovaa,e, Irina Ponomarenkoa, Svetlana Sirotinaa, Anna Bocharovab, Kseniya Vagaytsevab, Vadim Stepanovb, Mikhail Churnosovc, Olga Bushuevaa,e, Maria Solodilovaa, Yaroslav Shvetsova, and Vladimir Ivanova aDepartment of Biology, Medical Genetics and Ecology, Kursk State Medical University, Kursk, Russian Federation; bEvolutionary Genetics Laboratory, Research Institute for Medical Genetics, Tomsk, Russian Federation; cDepartment of Medical Biological Disciplines, Belgorod State University, Belgorod, Russian Federation; dLaboratory of Statistical Genetics and Bioinformatics, Research Institute for Genetic and Molecular Epidemiology, Kursk, Russian Federation; eLaboratory of Genomic Research, Research Institute for Genetic and Molecular Epidemiology, Kursk, Russian Federation ABSTRACT ARTICLE HISTORY Numerous studies demonstrated an importance of cytochrome P-450 epoxygenase pathway of arachi- Received 22 July 2016 donic acids metabolism for the pathogenesis of essential hypertension (EH). The present study was Revised 4 September 2016 designed to investigate whether common single-nucleotide polymorphisms (SNP) of CYP2C gene Accepted 12 September 2016 subfamily such as CYP2C8 (rs7909236 and rs1934953), CYP2C9 (rs9332242), and CYP2C19 (rs4244285) Published online 11 May 2017 are associated with susceptibility to EH in Russian population. A total of 816 unrelated Russian KEYWORDS individuals comprising 425 EH patients and 391 normotensive controls were included into the study. Arachidonic acid Genotyping of SNPs was performed using the MassARRAY 4 system. SNP rs7909236 of CYP2C8 was metabolism; CYP2C8; significantly associated with increased risk of EH (OR adjusted for sex and age was 2.99 95% CI 1.39-6.44, essential hypertension; P = 0.005). SNPs rs1934953 CYP2C8 and rs4244285 of CYP2C19 showed association with EH risk but at a epoxyeicosatrienoic acids; borderline statistical significance (P ≤ 0.04). Combination of genotypes CYP2C8 rs7909236 TT and genetic susceptibility; CYP2C19 rs4244285 GG was associated with increased EH risk (OR 3.34 95%CI 1.48-7.51, P = 0.004). single-nucleotide polymorphism Genotype–phenotype correlation analysis showed that the levels of CYP2C8 mRNA were significantly correlated with SNP rs7909236 (P = 0.01). in silico functional prediction analysis revealed the function- ality of majority of investigated SNPs. Thus, genes of CYP2C subfamily are important genetic determi- nants of susceptibility to essential hypertension in Russians. Introduction of EETs are realized through activating receptor-mediated signal- Hypertension is a complex multifactorial disease with high world- ing pathways and ion channels (12). A number of preclinical and wide prevalence and associated increased rates of morbidity, genetic epidemiologic studies demonstrated that CYP-derived mortality, and disability from cardiovascular and cerebrovascular epoxyeicosatrienoic acids possess potent vasodilatory, angiogenic, diseases (1, 2).Despiteconsiderableresearch,theetiologyof and anti-inflammatory properties in the heart, vasculature, and hypertension in most cases remains elusive, that is, the reason to kidney and that genetically determined alterations in the metabo- define the disease as essential hypertension (EH). Although, gen- lism of EETs may play an important role in the pathophysiology of ome-wide association scans and candidate gene studies have many cardiovascular disorders, including hypertension and its successfully identified a number of common genetic variants complications (13, 14). influencing blood pressure and hypertension susceptibility (3–7), Cytochrome P450 2J (CYP2J2) and 2C (CYP2C8, CYP2C9 and nevertheless, identification of new potential genes and pathways CYP2C19) are the two major subfamilies of CYP enzymes respon- related to disease pathogenesis remains a matter of great interest. sible for the biosynthesis of EETs in the cardiovascular system (15, According to the present available evidence, alterations in the 16). Interestingly, experimental studies demonstrated that metabolism of arachidonic acid (AA) and other polyunsaturated increased expression of endothelial CYP2 epoxygenases lowers fatty acids are involved into the pathogenesis of hypertension and blood pressure and attenuates hypertension-induced renal injury other cardiovascular diseases (8–10). Incorporated into mem- in mice (17). Taken into account that genetically determined brane phospholipids, AA is hydrolyzed by a Ca2+-activated phos- differences in the expression or activity of these enzymes could pholipase A2 upon endogenous stimuli and oxidized by explain interindividual risks in developing hypertension, exploita- cytochrome P450 epoxygenases to form epoxyeicosatrienoic tion of single-nucleotide polymorphisms (SNP) in genes encoding acids (EETs), potent lipid mediators with a wide range of biologi- these enzymes is become an attractive option for examining cal events in the cardiovascular system (11, 12). Functional effects genetic etiology of essential hypertension. Pursuing this interest, CONTACT Alexey Polonikov [email protected] Department of Biology, Medical Genetics and Ecology, Kursk State Medical University, 3 Karl Marx St., Kursk 305041, Russian Federation. Color versions of one or more of the figures in the article can be found online at www.tandfonline.com/iceh. © 2017 Taylor & Francis 2 A. POLONIKOV ET AL. several genetic association studies have been undertaken to inves- CYP2C subfamily epoxygenases of responsible for the meta- tigate the relationship between SNPs in CYP epoxygenase genes bolism of arachidonic acid into vasoactive eicosanoids were and hypertension susceptibility indifferenthumanpopulations. selected based on their involvement in the pathway using However, no association studies of CYP2C and CYP2J gene sub- KEGG PATHWAY (www.genome.jp/kegg/pathway.html), families have been so far undertaken on the animal model of Reactome Pathway (www.reactome.org), and PharmGKB human hypertension. The relationship of polymorphisms of (www.pharmgkb.org) databases. Four common SNPs of the CYP2C and CYP2J gene subfamilies and essential hypertension CYP2C gene subfamily as CYP2C8 (rs7909236, rs1934953), risk has been investigated in various races and ethnicities includ- CYP2C9 (rs9332242), and CYP2C19 (rs4244285) were selected ing African-Americans (18, 19), Chinese (20, 21, 22), Korean (23), for this study. Genotyping of SNPs was performed using the and Arab (24, 25) populations. A few genetic association studies MassARRAY 4 system (Agena Bioscience Inc, San Diego, CA, investigated CYP2C and CYP2J2 gene subfamilies SNPs and USA) at the Core Facility “Medical Genomics” in the Research hypertension risk have been done in European populations (18, Institute of Medical Genetics (Tomsk, Russia). We failed to 26, 27). However, these studies have yielded controversial results genotype eight controls and four cases EH patients because of and show that the pathogenetic role of CYP2C and CYP2J2 gene low quality of their DNA samples. subfamilies should be clarified by independent studies in different To evaluate genotype–phenotype correlations, we used the populations. Our previous study in Russians has found a strong genotype and mRNA expression data available for 270 association between promoter polymorphism -76G>T (rs890293) HapMap subjects from four populations and SNPexp v1.2 of the CYP2J2 gene and the risk of essential hypertension (26) online tool (http://app3.titan.uio.no/biotools/tool.php?app= highlighting the importance of P-450 epoxygenase pathway of snpexp). The functionality of selected SNPs was also assessed arachidonic acid metabolism in the pathogenesis of hypertension in silico by the SNP function prediction tool developed by Xu in our population. Therefore, the present study was designed to and Taylor (30) and available online at the SNPinfo Web investigate whether common SNPs of CYP2C subfamily genes
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