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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 pub-id-type="doi">10.25557/2073-7998.2020.05.99-100</article-id><article-id custom-type="elpub" pub-id-type="custom">medgen-1230</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>КРАТКИЕ СООБЩЕНИЯ</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="en"><subject>BRIEF REPORT</subject></subj-group></article-categories><title-group><article-title>Гены белков репарации ДНК и продолжительности жизни</article-title><trans-title-group xml:lang="en"><trans-title>Genes of DNA repair proteins and lifetime</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>Бабушкина</surname><given-names>Н. П.</given-names></name><name name-style="western" xml:lang="en"><surname>Babushkina</surname><given-names>N. P.</given-names></name></name-alternatives><email xlink:type="simple">nad.babushkina@medgenetics.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>Постригань</surname><given-names>А. Е.</given-names></name><name name-style="western" xml:lang="en"><surname>Postrigan</surname><given-names>A. E.</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>Кучер</surname><given-names>А. Н.</given-names></name><name name-style="western" xml:lang="en"><surname>Kucher</surname><given-names>A. N.</given-names></name></name-alternatives><email xlink:type="simple">noemail@neicon.ru</email><xref ref-type="aff" rid="aff-1"/></contrib></contrib-group><aff-alternatives id="aff-1"><aff xml:lang="ru"><institution>Научно-исследовательский институт медицинской генетики, Томский национальный исследовательский медицинский центр Российской академии наук</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences</institution><country>Russian Federation</country></aff></aff-alternatives><pub-date pub-type="collection"><year>2020</year></pub-date><pub-date pub-type="epub"><day>12</day><month>11</month><year>2020</year></pub-date><volume>19</volume><issue>5</issue><fpage>99</fpage><lpage>100</lpage><permissions><copyright-statement>Copyright &amp;#x00A9; Бабушкина Н.П., Постригань А.Е., Кучер А.Н., 2020</copyright-statement><copyright-year>2020</copyright-year><copyright-holder xml:lang="ru">Бабушкина Н.П., Постригань А.Е., Кучер А.Н.</copyright-holder><copyright-holder xml:lang="en">Babushkina N.P., Postrigan A.E., Kucher A.N.</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/1230">https://www.medgen-journal.ru/jour/article/view/1230</self-uri><abstract><p>Гены белков репарации ДНК интересны с точки зрения их роли в формировании многофакторных заболеваний. Нами изучена изменчивость 8 SNP в 6 генах белков репарации ДНК в разных возрастных когортах жителей г. Томска. Для rs473297 в гене MRE11 выявлены возраст-зависимые изменения частот аллелей и генотипов: для старшей возрастной когорты зарегистрированы различия по частотам аллелей и генотипов как с младшей когортой (p=0,04 и p=0,047 соответственно), так и с долгожителями (p=0,02 и p=0,047 соответственно). Аллель T rs473297 ассоциирован, с одной стороны, с долгожительством (p=0,02 за счет генотипов TT и GT), с другой - со смертностью от сердечно-сосудистых заболеваний в возрасте до 55 лет (только генотипы TT, p=0,03). То есть, rs473297 в гене MRE11 может быть вовлечен в определение продолжительности жизни через селективную выживаемость носителей разных генотипов, больных сложно-наследуемыми заболеваниями.</p></abstract><trans-abstract xml:lang="en"><p>Genes of DNA repair proteins are interesting from the point of view of involvement of formation of common diseases. We studied variability of 8 SNP in the six DNA repair proteins genes in different age cohorts of residents of Tomsk. For rs473297 (MRE11), age-dependent changes alleles and genotypes frequencies were identified: for the older age cohort of the population sample, differences in alleles and genotypes frequencies were recorded with both the younger cohort (p=0.04 and p=0.047, respectively) and long-livers (p=0.02 and p=0.047, respectively). Allele T rs473297 is associated, on the one hand - with longevity (p=0.02, due to genotypes TT and GT), on the other - with mortality from cardiac death under 55 years of age (only homozygotes TT, p=0.03). That is, rs473297 (MRE11) may be involved in determining lifetime through selective survival of carriers of different genotypes suffering from common diseases.</p></trans-abstract><kwd-group xml:lang="ru"><kwd>гены белков репарации ДНК</kwd><kwd>SNP</kwd><kwd>продолжительность жизни</kwd><kwd>genes of DNA repair proteins</kwd><kwd>SNP</kwd><kwd>lifetime</kwd></kwd-group></article-meta></front><back><ref-list><title>References</title></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>
