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<article article-type="research-article" dtd-version="1.3" xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" xml:lang="ru"><front><journal-meta><journal-id journal-id-type="publisher-id">medgen</journal-id><journal-title-group><journal-title xml:lang="ru">Медицинская генетика</journal-title><trans-title-group xml:lang="en"><trans-title>Medical Genetics</trans-title></trans-title-group></journal-title-group><issn pub-type="ppub">2073-7998</issn><publisher><publisher-name>Publishing House «Genius Media» LLC</publisher-name></publisher></journal-meta><article-meta><article-id custom-type="elpub" pub-id-type="custom">medgen-250</article-id><article-categories><subj-group subj-group-type="heading"><subject>Research Article</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="ru"><subject>ОРИГИНАЛЬНЫЕ ИССЛЕДОВАНИЯ</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="en"><subject>ORIGINAL RESEARCH</subject></subj-group></article-categories><title-group><article-title>Исследование взаимосвязи полиморфизмов I462V гена CYP1A1 и -9-154C&gt;A гена CYP1A2 c риском развития колоректального рака у русских жителей Центральной России</article-title><trans-title-group xml:lang="en"><trans-title>The relationship between polymorphism I462V of the CYP1A1 gene and -9-154C&gt;A of the CYP1A2 gene and colorectal cancer risk in the population of Central Russia</trans-title></trans-title-group></title-group><contrib-group><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Москалев</surname><given-names>А. С.</given-names></name><name name-style="western" xml:lang="en"><surname>Moskalev</surname><given-names>A. S.</given-names></name></name-alternatives><email xlink:type="simple">noemail@neicon.ru</email><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Солдатов</surname><given-names>В. О.</given-names></name><name name-style="western" xml:lang="en"><surname>Soldatov</surname><given-names>V. O.</given-names></name></name-alternatives><email xlink:type="simple">noemail@neicon.ru</email><xref ref-type="aff" rid="aff-2"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Вдовина</surname><given-names>И. Н.</given-names></name><name name-style="western" xml:lang="en"><surname>Vdovina</surname><given-names>I. N.</given-names></name></name-alternatives><email xlink:type="simple">noemail@neicon.ru</email><xref ref-type="aff" rid="aff-2"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Иванова</surname><given-names>Н. В.</given-names></name><name name-style="western" xml:lang="en"><surname>Ivanova</surname><given-names>N. V.</given-names></name></name-alternatives><email xlink:type="simple">noemail@neicon.ru</email><xref ref-type="aff" rid="aff-2"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Иванов</surname><given-names>В. П.</given-names></name><name name-style="western" xml:lang="en"><surname>Ivanov</surname><given-names>V. P.</given-names></name></name-alternatives><email xlink:type="simple">noemail@neicon.ru</email><xref ref-type="aff" rid="aff-2"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Полоников</surname><given-names>А. В.</given-names></name><name name-style="western" xml:lang="en"><surname>Polonikov</surname><given-names>A. V.</given-names></name></name-alternatives><email xlink:type="simple">noemail@neicon.ru</email><xref ref-type="aff" rid="aff-2"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Бушуева</surname><given-names>О. Ю.</given-names></name><name name-style="western" xml:lang="en"><surname>Bushueva</surname><given-names>O. Yu.</given-names></name></name-alternatives><email xlink:type="simple">olga.bushueva@inbox.ru</email><xref ref-type="aff" rid="aff-2"/></contrib></contrib-group><aff-alternatives id="aff-1"><aff xml:lang="ru"><institution>Курский областной клинический онкологический диспансер</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Kursk Regional Clinical Oncology Center</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-2"><aff xml:lang="ru"><institution>Курский государственный медицинский университет</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Kursk State Medical University</institution><country>Russian Federation</country></aff></aff-alternatives><pub-date pub-type="collection"><year>2017</year></pub-date><pub-date pub-type="epub"><day>19</day><month>09</month><year>2017</year></pub-date><volume>16</volume><issue>3</issue><fpage>41</fpage><lpage>45</lpage><permissions><copyright-statement>Copyright &amp;#x00A9; Москалев А.С., Солдатов В.О., Вдовина И.Н., Иванова Н.В., Иванов В.П., Полоников А.В., Бушуева О.Ю., 2017</copyright-statement><copyright-year>2017</copyright-year><copyright-holder xml:lang="ru">Москалев А.С., Солдатов В.О., Вдовина И.Н., Иванова Н.В., Иванов В.П., Полоников А.В., Бушуева О.Ю.</copyright-holder><copyright-holder xml:lang="en">Moskalev A.S., Soldatov V.O., Vdovina I.N., Ivanova N.V., Ivanov V.P., Polonikov A.V., Bushueva O.Y.</copyright-holder><license xml:lang="ru" license-type="creative-commons-attribution" xlink:href="https://creativecommons.org/licenses/by/4.0/" xlink:type="simple"><license-p>Данная работа распространяется под лицензией Creative Commons Attribution 4.0.</license-p></license><license xml:lang="en" license-type="creative-commons-attribution" xlink:href="https://creativecommons.org/licenses/by/4.0/" xlink:type="simple"><license-p>This work is licensed under a Creative Commons Attribution 4.0 License.</license-p></license></permissions><self-uri xlink:href="https://www.medgen-journal.ru/jour/article/view/250">https://www.medgen-journal.ru/jour/article/view/250</self-uri><abstract><p>Колоректальный рак (КРР) является одним из наиболее часто встречающихся злокачественных новообразований, ассоциирующихся с высокой смертностью у пациентов. Одной из гипотез патогенеза КРР является нарушения в работе системы биотрансформации ксенобиотиков, которые могут быть опосредованы генетическими механизмами. Целью исследования было изучение ассоциации полиморфизмов I462V гена CYP1A1 и -9-154C&gt;A гена CYP1A2 c предрасположенностью к КРР у жителей Центральной России. Материалом для исследования послужили 543 образца ДНК: 262 пациентов с КРР и 281 относительно здоровых индивидуумов, сопоставимых по полу и возрасту. Генотипирование проводили методом ПЦР в режиме реального времени путем дискриминации аллелей с помощью TaqMan-зондов. Мы обнаружили, что генотип 462II (OR = 1,74, 95%CI = 1,02-2,97, Р = 0,04) ассоциируются с повышенным риском развития КРР. При этом у гетерозигот обнаружен протективный эффект относительно развития КРР (OR = 0,55, 95%CI = 0,32-0,96, Р = 0,03). При сравнительном анализе частот аллелей и генотипов -9-154C&gt;A гена CYP1A2 различий между исследуемыми группами обнаружено не было. Таким образом, мы установили, что полиморфизм I462V гена CYP1A1 связан с развитием КРР в русской популяции.</p></abstract><trans-abstract xml:lang="en"><p>Colorectal cancer (CRC) is one of the most common tumors associated with high mortality in patients. The system of xenobiotics biotransformation mediated by genetic mechanisms is involved in the pathogenesis of colorectal cancer. The aim of this study was to investigate the association of polymorphisms I462V of the CYP1A1 gene and -9-154C&gt;A of the CYP1A2 gene with the risk of CRC in population of the Central Russia. We studied DNA samples obtained from 543 subjects, including 262 CRC patients and 281 sex- and age-matched healthy individuals. The polymorphisms were genotyped through a real-time PCR using TaqMan allele-discrimination assays. We found that the genotype 462II (OR = 1,74, 95% CI = 1,02-2.97, P = 0,04) of the CYP1A1 gene was associated with increased risk of CRC. Meanwhile we observed the protective effect of 462IV genotype against the risk of CRC development (OR = 0,55, 95% CI = 0,32-0,96, P = 0,03). The comparative analysis showed no differences in allele and genotype frequencies of the CYP1A2 -9-154C&gt;A polymorphism between cases and controls. Thus, we found that polymorphism I462V оf the CYP1A1 gene is associated with CRС in the Russian population.</p></trans-abstract><kwd-group xml:lang="ru"><kwd>Колоректальный рак</kwd><kwd>наследственная предрасположенность</kwd><kwd>биотрансформация ксенобиотиков</kwd><kwd>CYP1A1</kwd><kwd>CYP1A2</kwd><kwd>Colorectal cancer</kwd><kwd>genetic predisposition</kwd><kwd>biotransformation of xenobiotics</kwd><kwd>CYP1A1</kwd><kwd>CYP1A2</kwd></kwd-group></article-meta></front><back><ref-list><title>References</title><ref id="cit1"><label>1</label><citation-alternatives><mixed-citation xml:lang="ru">Belyalova NS, Belyalov FI. Faktory riska i profilaktika raka. Chast’ 1. Klinicheskaya meditsina. 2005;(11):17-21.</mixed-citation><mixed-citation xml:lang="en">Belyalova NS, Belyalov FI. Faktory riska i profilaktika raka. Chast’ 1. Klinicheskaya meditsina. 2005;(11):17-21.</mixed-citation></citation-alternatives></ref><ref id="cit2"><label>2</label><citation-alternatives><mixed-citation xml:lang="ru">Barsukov YuA. Kolorektal’nyy rak. Problemy klinicheskoy meditsiny. 2006;(2):6.</mixed-citation><mixed-citation xml:lang="en">Barsukov YuA. Kolorektal’nyy rak. Problemy klinicheskoy meditsiny. 2006;(2):6.</mixed-citation></citation-alternatives></ref><ref id="cit3"><label>3</label><citation-alternatives><mixed-citation xml:lang="ru">Gil J, Gaj P, Misiak B et al. CYP1A1 Ile462Val polymorphism and colorectal cancer risk in Polish patients. //Medical Oncology. 2014;31(7):1-5.</mixed-citation><mixed-citation xml:lang="en">Gil J, Gaj P, Misiak B et al. CYP1A1 Ile462Val polymorphism and colorectal cancer risk in Polish patients. //Medical Oncology. 2014;31(7):1-5.</mixed-citation></citation-alternatives></ref><ref id="cit4"><label>4</label><citation-alternatives><mixed-citation xml:lang="ru">Khan N, Afaq F, Mukhtar H. Lifestyle as risk factor for cancer: Evidence from human studies. //Cancer letters. 2010;293(2):133-143.</mixed-citation><mixed-citation xml:lang="en">Khan N, Afaq F, Mukhtar H. Lifestyle as risk factor for cancer: Evidence from human studies. //Cancer letters. 2010;293(2):133-143.</mixed-citation></citation-alternatives></ref><ref id="cit5"><label>5</label><citation-alternatives><mixed-citation xml:lang="ru">Landi S, Gemignani F, Moreno V et al. A comprehensive analysis of phase I and phase II metabolism gene polymorphisms and risk of colorectal cancer. //Pharmacogenetics and genomics. 2005;15(8):535-546.</mixed-citation><mixed-citation xml:lang="en">Landi S, Gemignani F, Moreno V et al. A comprehensive analysis of phase I and phase II metabolism gene polymorphisms and risk of colorectal cancer. //Pharmacogenetics and genomics. 2005;15(8):535-546.</mixed-citation></citation-alternatives></ref><ref id="cit6"><label>6</label><citation-alternatives><mixed-citation xml:lang="ru">Pande M, Amos CI, Osterwisch DR et al. Genetic variation in genes for the xenobiotic-metabolizing enzymes CYP1A1, EPHX1, GSTM1, GSTT1, and GSTP1 and susceptibility to colorectal cancer in Lynch syndrome. // Cancer Epidemiology Biomarkers &amp; Prevention. 2008;17(9):2393-2401.</mixed-citation><mixed-citation xml:lang="en">Pande M, Amos CI, Osterwisch DR et al. Genetic variation in genes for the xenobiotic-metabolizing enzymes CYP1A1, EPHX1, GSTM1, GSTT1, and GSTP1 and susceptibility to colorectal cancer in Lynch syndrome. // Cancer Epidemiology Biomarkers &amp; Prevention. 2008;17(9):2393-2401.</mixed-citation></citation-alternatives></ref><ref id="cit7"><label>7</label><citation-alternatives><mixed-citation xml:lang="ru">Little J, Sharp L, Masson LF et al. Colorectal cancer and genetic polymorphisms of CYP1A1, GSTM1 and GSTT1: A case-control study in the Grampian region of Scotland. // International journal of cancer. 2006;119(9):2155-2164.</mixed-citation><mixed-citation xml:lang="en">Little J, Sharp L, Masson LF et al. Colorectal cancer and genetic polymorphisms of CYP1A1, GSTM1 and GSTT1: A case-control study in the Grampian region of Scotland. // International journal of cancer. 2006;119(9):2155-2164.</mixed-citation></citation-alternatives></ref><ref id="cit8"><label>8</label><citation-alternatives><mixed-citation xml:lang="ru">Slattery ML, Samowtiz W, Ma K et al. CYP1A1, cigarette smoking, and colon and rectal cancer. // American Journal of Epidemiology. 2004;160(9):842-852.</mixed-citation><mixed-citation xml:lang="en">Slattery ML, Samowtiz W, Ma K et al. CYP1A1, cigarette smoking, and colon and rectal cancer. // American Journal of Epidemiology. 2004;160(9):842-852.</mixed-citation></citation-alternatives></ref><ref id="cit9"><label>9</label><citation-alternatives><mixed-citation xml:lang="ru">Bae SY, Choi SK, Kim KR et al. Effects of genetic polymorphisms of MDR1, FMO3 and CYP1A2 on susceptibility to colorectal cancer in Koreans. // Cancer science. 2006;97(8): 774-779.</mixed-citation><mixed-citation xml:lang="en">Bae SY, Choi SK, Kim KR et al. Effects of genetic polymorphisms of MDR1, FMO3 and CYP1A2 on susceptibility to colorectal cancer in Koreans. // Cancer science. 2006;97(8): 774-779.</mixed-citation></citation-alternatives></ref><ref id="cit10"><label>10</label><citation-alternatives><mixed-citation xml:lang="ru">Eichholzer M, Rohrmann S, Barbir A et al. Polymorphisms in heterocyclic aromatic amines metabolism-related genes are associated with colorectal adenoma risk. // Int J Mol Epidemiol Genet. 2012;3(2):96-106.</mixed-citation><mixed-citation xml:lang="en">Eichholzer M, Rohrmann S, Barbir A et al. Polymorphisms in heterocyclic aromatic amines metabolism-related genes are associated with colorectal adenoma risk. // Int J Mol Epidemiol Genet. 2012;3(2):96-106.</mixed-citation></citation-alternatives></ref><ref id="cit11"><label>11</label><citation-alternatives><mixed-citation xml:lang="ru">Akiyama TE, Gonzalez FJ. Regulation of P450 genes by liver-enriched transcription factors and nuclear receptors. // Biochimica et Biophysica Acta (BBA)-General Subjects. 2003;1619(3):223-234.</mixed-citation><mixed-citation xml:lang="en">Akiyama TE, Gonzalez FJ. Regulation of P450 genes by liver-enriched transcription factors and nuclear receptors. // Biochimica et Biophysica Acta (BBA)-General Subjects. 2003;1619(3):223-234.</mixed-citation></citation-alternatives></ref><ref id="cit12"><label>12</label><citation-alternatives><mixed-citation xml:lang="ru">Kang SH, Kim TY, Kim HY et al. Protective role of CYP1A1* 2A in the development of multiple myeloma. //Acta haematologica. 2008;119(1):60-64.</mixed-citation><mixed-citation xml:lang="en">Kang SH, Kim TY, Kim HY et al. Protective role of CYP1A1* 2A in the development of multiple myeloma. //Acta haematologica. 2008;119(1):60-64.</mixed-citation></citation-alternatives></ref><ref id="cit13"><label>13</label><citation-alternatives><mixed-citation xml:lang="ru">Nakachi K, Imai K, Hayashi SI et al. Polymorphisms of the CYP1A1 and glutathione S-transferase genes associated with susceptibility to lung cancer in relation to cigarette dose in a Japanese population. // Cancer Research. 1993;53(13):2994-2999.</mixed-citation><mixed-citation xml:lang="en">Nakachi K, Imai K, Hayashi SI et al. Polymorphisms of the CYP1A1 and glutathione S-transferase genes associated with susceptibility to lung cancer in relation to cigarette dose in a Japanese population. // Cancer Research. 1993;53(13):2994-2999.</mixed-citation></citation-alternatives></ref><ref id="cit14"><label>14</label><citation-alternatives><mixed-citation xml:lang="ru">Miyoshi Y, Takahashi Y, Egawa C et al. Breast cancer risk associated with CYP1A1 genetic polymorphisms in Japanese women. // The breast journal. 2002;8(4):209-215.</mixed-citation><mixed-citation xml:lang="en">Miyoshi Y, Takahashi Y, Egawa C et al. Breast cancer risk associated with CYP1A1 genetic polymorphisms in Japanese women. // The breast journal. 2002;8(4):209-215.</mixed-citation></citation-alternatives></ref><ref id="cit15"><label>15</label><citation-alternatives><mixed-citation xml:lang="ru">Krajinovic MPCHSCADD, Ghadirian P, Richer C et al. Genetic susceptibility to breast cancer in French-Canadians: Role of carcinogen-metabolizing enzymes and gene-environment interactions. // International journal of cancer. 2001;92(2):220-225.</mixed-citation><mixed-citation xml:lang="en">Krajinovic MPCHSCADD, Ghadirian P, Richer C et al. Genetic susceptibility to breast cancer in French-Canadians: Role of carcinogen-metabolizing enzymes and gene-environment interactions. // International journal of cancer. 2001;92(2):220-225.</mixed-citation></citation-alternatives></ref><ref id="cit16"><label>16</label><citation-alternatives><mixed-citation xml:lang="ru">Cote ML, Wenzlaff AS, Bock CH et al. Combinations of cytochrome P-450 genotypes and risk of early-onset lung cancer in Caucasians and African Americans: a population-based study. // Lung Cancer. 2007;55(3):255-262.</mixed-citation><mixed-citation xml:lang="en">Cote ML, Wenzlaff AS, Bock CH et al. Combinations of cytochrome P-450 genotypes and risk of early-onset lung cancer in Caucasians and African Americans: a population-based study. // Lung Cancer. 2007;55(3):255-262.</mixed-citation></citation-alternatives></ref><ref id="cit17"><label>17</label><citation-alternatives><mixed-citation xml:lang="ru">Lyakhovich VV, Vavilin VA, Gutkina NI i dr. Geny i fermenty sistemy metabolizma ksenobiotikov v onkopatologii. Voprosy meditsinskoy khimii. 1997;43(5):330-338.</mixed-citation><mixed-citation xml:lang="en">Lyakhovich VV, Vavilin VA, Gutkina NI i dr. Geny i fermenty sistemy metabolizma ksenobiotikov v onkopatologii. Voprosy meditsinskoy khimii. 1997;43(5):330-338.</mixed-citation></citation-alternatives></ref></ref-list><fn-group><fn fn-type="conflict"><p>The authors declare that there are no conflicts of interest present.</p></fn></fn-group></back></article>
