<?xml version="1.0" encoding="UTF-8"?>
<!DOCTYPE article PUBLIC "-//NLM//DTD JATS (Z39.96) Journal Publishing DTD v1.3 20210610//EN" "JATS-journalpublishing1-3.dtd">
<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">10.25557/2073-7998.2025.04.65-67</article-id><article-id custom-type="elpub" pub-id-type="custom">medgen-2961</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>КРАТКОЕ СООБЩЕНИЕ</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>Локусы, ассоциированные с артериальной гипертензией, как генетические маркеры облитерирующего атеросклероза сосудов нижних конечностей</article-title><trans-title-group xml:lang="en"><trans-title>Loci associated with arterial hypertension as genetic markers of peripheral artery disease</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>Жабин</surname><given-names>С. Н.</given-names></name><name name-style="western" xml:lang="en"><surname>Zhabin</surname><given-names>S. N.</given-names></name></name-alternatives><bio xml:lang="ru"><p>305041, г. Курск, К. Маркса, 3 </p></bio><bio xml:lang="en"><p>3, K. Marx st, Russia, Kursk, 305041</p></bio><email xlink:type="simple">79038771993@yandex.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>Лазаренко</surname><given-names>В. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Lazarenko</surname><given-names>V. A.</given-names></name></name-alternatives><bio xml:lang="ru"><p>305041, г. Курск, К. Маркса, 3 </p></bio><bio xml:lang="en"><p>3, K. Marx st, Russia, Kursk, 305041</p></bio><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Азарова</surname><given-names>Ю. Э.</given-names></name><name name-style="western" xml:lang="en"><surname>Azarova</surname><given-names>Iu. E.</given-names></name></name-alternatives><bio xml:lang="ru"><p>305041, г. Курск, К. Маркса, 3 </p></bio><bio xml:lang="en"><p>3, K. Marx st, Russia, Kursk, 305041</p></bio><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Солодилова</surname><given-names>М. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Solodilova</surname><given-names>M. A.</given-names></name></name-alternatives><bio xml:lang="ru"><p>305041, г. Курск, К. Маркса, 3 </p></bio><bio xml:lang="en"><p>3, K. Marx st, Russia, Kursk, 305041</p></bio><xref ref-type="aff" rid="aff-1"/></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><bio xml:lang="ru"><p>305041, г. Курск, К. Маркса, 3 </p></bio><bio xml:lang="en"><p>3, K. Marx st, Russia, Kursk, 305041</p></bio><xref ref-type="aff" rid="aff-1"/></contrib></contrib-group><aff-alternatives id="aff-1"><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>2025</year></pub-date><pub-date pub-type="epub"><day>26</day><month>07</month><year>2025</year></pub-date><volume>24</volume><issue>4</issue><fpage>65</fpage><lpage>67</lpage><permissions><copyright-statement>Copyright &amp;#x00A9; Жабин С.Н., Лазаренко В.А., Азарова Ю.Э., Солодилова М.А., Полоников А.В., 2025</copyright-statement><copyright-year>2025</copyright-year><copyright-holder xml:lang="ru">Жабин С.Н., Лазаренко В.А., Азарова Ю.Э., Солодилова М.А., Полоников А.В.</copyright-holder><copyright-holder xml:lang="en">Zhabin S.N., Lazarenko V.A., Azarova I.E., Solodilova M.A., Polonikov A.V.</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/2961">https://www.medgen-journal.ru/jour/article/view/2961</self-uri><abstract><p>Целью настоящего исследования было изучение взаимосвязи с риском развития облитерирующего атеросклероза сосудов нижних конечностей (ОАСНК) пяти полиморфных вариантов, установленных полногеномными ассоциативными исследованиями как локусы подверженности артериальной гипертензии. Установлено, что локус rs7129220 в гене AMPD3 ассоциирован с повышенным риском развития ОАСНК 7,584 (95%CI 1,89-30,33, рperm=0,0001) независимо от пола. Полиморфизм rs4373814 гена CACNB2 показал статистически значимую негативную корреляцию с показателем ABI (β=-0,053, рperm=0,03), тогда как SNP rs932764 (PLCE1) ассоциировался с повышенным уровнем холестерина липопротеидов низкой плотности (β=0,211, рperm=0,03) и триглицеридов (β=0,048, рperm=0,04) в плазме крови больных ОАСНК. Полученные результаты могут свидетельствовать о плейотропных эффектах генов, вовлеченных в регуляцию артериального давления, на другие фенотипы, имеющие отношение к атеросклерозу.</p></abstract><trans-abstract xml:lang="en"><p>The aim of this study was to investigate the relationship between five polymorphisms identified by genome-wide association studies as susceptibility loci for arterial hypertension and the risk of developing peripheral artery disease (PAD). The rs7129220 locus in the AMPD3 gene was found to be associated with an increased risk of PAD (OR = 7.584; 95% CI: 1.89-30.33; Pperm=0.0001), regardless of gender. The polymorphism rs4373814 in the CACNB2 gene exhibited a statistically significant negative correlation with the ankle-brachial index (β=-0.053; Pperm=0.03). Additionally, SNP rs932764 in the PLCE1 gene was associated with elevated levels of low-density lipoprotein cholesterol (β=0.211; Pperm=0.03) and triglycerides (β=0.048; Pperm=0.04) in the plasma of patients with PAD. These findings suggest potential pleiotropic effects of genes involved in blood pressure regulation on other phenotypes related to atherosclerosis.</p></trans-abstract><kwd-group xml:lang="ru"><kwd>облитерирующий атеросклероз сосудов нижних конечностей</kwd><kwd>артериальная гипертензия</kwd><kwd>наследственная предрасположенность</kwd><kwd>полногеномные ассоциативные исследования</kwd><kwd>однонуклеотидный полиморфизм (ОНП)</kwd></kwd-group><kwd-group xml:lang="en"><kwd>Peripheral artery disease</kwd><kwd>arterial hypertension</kwd><kwd>hereditary predisposition</kwd><kwd>genome-wide association studies (GWAS)</kwd><kwd>single nucleotide polymorphism (SNP)</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">Калинин Р. Е., Сучков И. А., Чобанян А. А. и др. Маркеры течения облитерирующего атеросклероза артерий нижних конечностей. Ангиология и сосудистая хирургия. 2021;27(2):17-23. doi: 10.33529/ANGIO2021203.</mixed-citation><mixed-citation xml:lang="en">Kalinin R.E., Suchkov I.A., Chobanian А.А., et al. Markery techeniya obliteriruyushchego ateroskleroza arteriy nizhnikh konechnostey [Markers of the course of obliterating atherosclerosis of lower limb arteries]. Angiologiya i sosudistaya khirurgiya [Angiology and Vascular Surgery]. 2021;27(2):17-23. (In Russ.) doi: 10.33529/ANGIO2021203.</mixed-citation></citation-alternatives></ref><ref id="cit2"><label>2</label><citation-alternatives><mixed-citation xml:lang="ru">Abraham A.T., Mojaddedi S., Loseke I.H., Bray C. Hypertension in Patients With Peripheral Artery Disease: An Updated Literature Review. Cureus. 2024;16(6):e62246.</mixed-citation><mixed-citation xml:lang="en">Abraham A.T., Mojaddedi S., Loseke I.H., Bray C. Hypertension in Patients With Peripheral Artery Disease: An Updated Literature Review. Cureus. 2024;16(6):e62246.</mixed-citation></citation-alternatives></ref><ref id="cit3"><label>3</label><citation-alternatives><mixed-citation xml:lang="ru">Kitamura K., Kangawa K., Kawamoto M., et al. Adrenomedullin: a novel hypotensive peptide isolated from human pheochromocytoma. Biochem Biophys Res Commun. 1993;192(2):553-60.</mixed-citation><mixed-citation xml:lang="en">Kitamura K., Kangawa K., Kawamoto M., et al. Adrenomedullin: a novel hypotensive peptide isolated from human pheochromocytoma. Biochem Biophys Res Commun. 1993;192(2):553-60.</mixed-citation></citation-alternatives></ref><ref id="cit4"><label>4</label><citation-alternatives><mixed-citation xml:lang="ru">McLatchie L.M., Fraser N.J., Main M.J., et al. RAMPs regulate the transport and ligand specificity of the calcitonin-receptor-like receptor. Nature. 1998;393(6683):333-9.</mixed-citation><mixed-citation xml:lang="en">McLatchie L.M., Fraser N.J., Main M.J., et al. RAMPs regulate the transport and ligand specificity of the calcitonin-receptor-like receptor. Nature. 1998;393(6683):333-9.</mixed-citation></citation-alternatives></ref><ref id="cit5"><label>5</label><citation-alternatives><mixed-citation xml:lang="ru">Yoshimura S., Gerondopoulos A., Linford A., Rigden D.J., Barr F.A. Family-wide characterization of the DENN domain Rab GDP-GTP exchange factors. J Cell Biol. 2010;191(2):367-81.</mixed-citation><mixed-citation xml:lang="en">Yoshimura S., Gerondopoulos A., Linford A., Rigden D.J., Barr F.A. Family-wide characterization of the DENN domain Rab GDP-GTP exchange factors. J Cell Biol. 2010;191(2):367-81.</mixed-citation></citation-alternatives></ref><ref id="cit6"><label>6</label><citation-alternatives><mixed-citation xml:lang="ru">Jean S., Cox S., Nassari S., Kiger A.A. Starvation-induced MTMR13 and RAB21 activity regulates VAMP8 to promote autophagosomelysosome fusion. EMBO Rep. 2015;16(3):297-311.</mixed-citation><mixed-citation xml:lang="en">Jean S., Cox S., Nassari S., Kiger A.A. Starvation-induced MTMR13 and RAB21 activity regulates VAMP8 to promote autophagosomelysosome fusion. EMBO Rep. 2015;16(3):297-311.</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>
