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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">gastro-j</journal-id><journal-title-group><journal-title xml:lang="ru">Российский журнал гастроэнтерологии, гепатологии, колопроктологии</journal-title><trans-title-group xml:lang="en"><trans-title>Russian Journal of Gastroenterology, Hepatology, Coloproctology</trans-title></trans-title-group></journal-title-group><issn pub-type="ppub">1382-4376</issn><issn pub-type="epub">2658-6673</issn><publisher><publisher-name>«Gastro» LLC</publisher-name></publisher></journal-meta><article-meta><article-id custom-type="elpub" pub-id-type="custom">gastro-j-1118</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>ГЕПАТОЛОГИЯ</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="en"><subject>HEPATOLOGY</subject></subj-group></article-categories><title-group><article-title>Исследование ассоциации полиморфизма Gln223Arg гена рецептора лептина с ожирением и неалкогольной жировой болезнью печени</article-title><trans-title-group xml:lang="en"><trans-title>Association of leptin receptor Gln223Arg genetic polymorphism with obesity and non-alcoholic fatty liver 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>Морозова</surname><given-names>А. В.</given-names></name><name name-style="western" xml:lang="en"><surname>Morozova</surname><given-names>A. V.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Морозова Александра Валерьевна — аспирант кафедры терапии</p><p>654005, г. Новокузнецк, пр. Строителей, 5</p></bio><bio xml:lang="en"><p>Morozova Alexandra V — post-graduate student, chair of internal diseases </p><p>654005, Novokuznetsk, Stroiteley pr., 5</p></bio><email xlink:type="simple">sasha_8512@mail.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>Мальцева</surname><given-names>Н. В.</given-names></name><name name-style="western" xml:lang="en"><surname>Mal'tseva</surname><given-names>N. V.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Мальцева Нина Васильевна — доктор биологических наук, заведующая научно-исследовательской лабораторией молекулярной биологии</p><p>654005, г. Новокузнецк, пр. Строителей, 5</p></bio><bio xml:lang="en"><p>Mal'tseva Nina V — Dr.Sci.Biol., head of Research laboratory of molecular biology</p><p>654005, Novokuznetsk, Stroiteley pr., 5</p></bio><email xlink:type="simple">ninamaltseva@nm.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>Горбатовский</surname><given-names>Я. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Gorbatovsky</surname><given-names>Y. A.</given-names></name></name-alternatives><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Лыкова</surname><given-names>О. Ф.</given-names></name><name name-style="western" xml:lang="en"><surname>Lykova</surname><given-names>O. F.</given-names></name></name-alternatives><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Архипова</surname><given-names>С. В.</given-names></name><name name-style="western" xml:lang="en"><surname>Arkhipova</surname><given-names>S. V.</given-names></name></name-alternatives><xref ref-type="aff" rid="aff-1"/></contrib></contrib-group><aff-alternatives id="aff-1"><aff xml:lang="ru"><institution>ГБОУ ДПО «Новокузнецкий государственный институт усовершенствования врачей» Минздрава России</institution><country>Россия</country></aff><aff xml:lang="en"><institution>«Novokuznetsk State Institute of Postgraduate Medicine»&#13;
Ministry of HeathCare of Russia</institution><country>Russian Federation</country></aff></aff-alternatives><pub-date pub-type="collection"><year>2014</year></pub-date><pub-date pub-type="epub"><day>17</day><month>04</month><year>2024</year></pub-date><volume>24</volume><issue>3</issue><fpage>49</fpage><lpage>57</lpage><permissions><copyright-statement>Copyright &amp;#x00A9; Морозова А.В., Мальцева Н.В., Горбатовский Я.А., Лыкова О.Ф., Архипова С.В., 2014</copyright-statement><copyright-year>2014</copyright-year><copyright-holder xml:lang="ru">Морозова А.В., Мальцева Н.В., Горбатовский Я.А., Лыкова О.Ф., Архипова С.В.</copyright-holder><copyright-holder xml:lang="en">Morozova A.V., Mal'tseva N.V., Gorbatovsky Y.A., Lykova O.F., Arkhipova S.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.gastro-j.ru/jour/article/view/1118">https://www.gastro-j.ru/jour/article/view/1118</self-uri><abstract><p>Цель исследования. Поиск ассоциации полиморфизма Gln223Arg в гене рецептора лептина (LEPR) с ожирением и неалкогольной жировой болезнью печени (НАЖБП).Материал и методы. Обследованы 107 пациентов с НАЖБП, 81 пациент с алкогольной болезнью печени (АБП) и 117 лиц без патологии печени (группа контроля). Критерием ожирения тела был индекс массы тела (ИМТ) ≥30,0. В сыворотке крови обследуемых содержание холестерина и триглицеридов определяли ферментным колориметрическим методом, концентрацию лептина — иммуноферментным методом. Генотипирование по полиморфизму Gln223Arg в гене LEPR проводили методом аллель-специфической полимеразной цепной реакции.Результаты. В группе контроля и у пациентов с АБП не обнаружено связи ожирения с полиморфизмом Gln223Arg гена LEPR. У пациентов с НАЖБП без ожирения генотип Arg223Arg, как и аллель 223Arg, встречался реже, чем в группе контроля — в 3 (P&lt;0,05) и 1,5 (P&lt;0,05) раза соответственно. Частота данного генотипа/аллеля также была значимо меньше в группе с НАЖБП у лиц без ожирения, чем с ожирением.Уровень холестерина в сыворотке крови при НАЖБП в среднем оказался выше, чем при АБП (P&lt;0,05), причем у носителей генотипа Gln223Gln данный показатель был максимальным по сравнению с соответствующим показателем в других группах.У лиц с НАЖБП вариант 223Arg встречался реже (49,5%), чем вариант 223Gln, в отличие от других групп. Частота аллеля 223Gln у женщин с НАЖБП была в 1,5 раза выше (P&lt;0,05), чем у женщин с АБП, и в 1,3 раза выше (P&lt;0,05), чем у женщин из группы контроля. Соответственно частота генотипа Gln223Gln у женщин с НАЖБП превышала соответствующий показатель у женщин с АБП в 1,5 раза (P&lt;0,01), у женщин из группы контроля в 1,3 раза (P&lt;0,05) и у мужчин с НАЖБП в 3 раза (P=0,05).Выводы. Носительство варианта 223Gln полиморфизма Gln223Arg в гене LEPR может способствовать повышению уровня холестерина и развитию неалкогольной жировой болезни печени и в отсутствие ожирения, особенно у женщин.</p></abstract><trans-abstract xml:lang="en"><sec><title>Aim of investigation</title><p>Aim of investigation. Investigation of association of leptin receptor (LEPR) gene Gln223Arg polymorphism with obesity and non-alcoholic fatty liver disease (NAFLD).</p></sec><sec><title>Material and methods</title><p>Material and methods. Overall 107 patients with NAFLD, 81 patient with alcoholic liver disease (ALD) and 117 patients without liver diseases (control group) were investigated. Obesity criterion was body the body mass index (BMI) ≥30,0. Cholesterol and triglycerides serum levels were estimated by enzyme colorimetric method, leptin concentration — by immunoenzyme method. Genotyping for LEPR Gln223Arg gene polymorphism was carried out by allele — specific polymerase chain reaction.</p></sec><sec><title>Results</title><p>Results. In control group and ALD patients no correlation of obesity with LEPR Gln223Arg gene polymorphism was revealed. In NAFLD patients without obesity Arg223Arg genotype, as well as 223Arg allele, was less frequent, than in control group — 3 times (P&lt;0,05) and 1,5 times (P&lt;0,05) respectively. Frequency of this genotype / allele was also significantly less in NAFLD group without obesity, than in those with obesity. Mean serum cholesterol level at NAFLD was higher, than at ALD (Р &lt;0,05), and in Gln223Gln genotype carriers this parameter was highest in comparison to that parameter in other groups. At NAFLD patients 223Arg variant was less frequent (49,5%), than 223Gln variant, in contrast to other groups. Allelic frequency of 223Gln in women with NAFLD was 1,5 times higher (P&lt;0,05) , than in women with ALD, and 1,3 times higher (P&lt;0,05), than in women of control group. Frequency of Gln223Gln genotype in women with NAFLD was higher than that in women with ALD 1,5 times (Р&lt;0,01), in women of control group — 1,3 times (Р&lt;0,05) and in men with NAFLD — 3 times (Р=0,05) respectively.</p></sec><sec><title>Conclusions</title><p>Conclusions. Carriage of 223Gln variant of LEPR Gln223Arg gene polymorphism can promote increase of cholesterol level and development of non-alcoholic fatty liver disease in absence of obesity as well, is especial in women.</p></sec></trans-abstract><kwd-group xml:lang="ru"><kwd>ген рецептора лептина</kwd><kwd>полиморфизм Gln223Arg</kwd><kwd>неалкогольная болезнь печени</kwd><kwd>ожирение</kwd><kwd>лептин</kwd><kwd>холестерин</kwd><kwd>триглицериды</kwd></kwd-group><kwd-group xml:lang="en"><kwd>leptin receptor gene</kwd><kwd>Gln223Arg polymorphism</kwd><kwd>non-alcoholic liver disease</kwd><kwd>obesity</kwd><kwd>leptin</kwd><kwd>cholesterol</kwd><kwd>triglycerides</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">Ben Ali S, Kallel A, Sediri Y, et al. LEPR p.Q223R Polymorphism influences plasma leptin levels and body mass index in Tunisian obese patients. 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