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<article article-type="research-article" dtd-version="1.2" xml:lang="ru" xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink"><front><journal-meta><journal-id journal-id-type="issn">2658-6533</journal-id><journal-title-group><journal-title>Research Results in Biomedicine</journal-title></journal-title-group><issn pub-type="epub">2658-6533</issn></journal-meta><article-meta><article-id pub-id-type="doi">10.18413/2313-8955-2018-4-3-0-3</article-id><article-id pub-id-type="publisher-id">1512</article-id><article-categories><subj-group subj-group-type="heading"><subject>Genetics</subject></subj-group></article-categories><title-group><article-title>MOLECULAR-GENETIC DETERMINANTS OF INFERTILITY IN GENITAL ENDOMETRYOSIS</article-title><trans-title-group xml:lang="en"><trans-title>MOLECULAR-GENETIC DETERMINANTS OF INFERTILITY IN GENITAL ENDOMETRYOSIS</trans-title></trans-title-group></title-group><contrib-group><contrib contrib-type="author"><name-alternatives><name xml:lang="ru"><surname>Radzinsky</surname><given-names>Viktor E.</given-names></name><name xml:lang="en"><surname>Radzinsky</surname><given-names>Viktor E.</given-names></name></name-alternatives></contrib><contrib contrib-type="author"><name-alternatives><name xml:lang="ru"><surname>Altuchova</surname><given-names>Oksana B.</given-names></name><name xml:lang="en"><surname>Altuchova</surname><given-names>Oksana B.</given-names></name></name-alternatives><email>kristalinka@yandex.ru</email></contrib></contrib-group><pub-date pub-type="epub"><year>2018</year></pub-date><volume>4</volume><issue>3</issue><fpage>0</fpage><lpage>0</lpage><self-uri content-type="pdf" xlink:href="/media/medicine/2018/3/ilovepdf_com-29-38.pdf" /><abstract xml:lang="ru"><p>Background: Genital endometriosis is an urgent problem of modern medicine. It is one of the hard-to-explain diseases and is the cause of reproductive health disorders, a decline in the quality of life and social disadaptation of women of any age. The aim of the study: To evaluate the relationship of genetic markers to the development of infertility in genital endometriosis. Materials and methods: The sample for the study included 428 patients with genital endometriosis: 132 patients with genital endometriosis accompanied by infertility (30.84%) and 296 patients with the onset of pregnancy (69.16%). Genotyping of 32 polymorphic loci of genes-candidates of hyperplastic diseases of the uterus was carried out. An analysis of the role of the polymorphic loci and their combinations in the formation of infertility in genital endometriosis was carried out using the APSampler software. Results: It was found that the risk factors for infertility in genital endometriosis are combinations of genetic variants T (rs243865) MMP-2, 6A (rs3025058) MMP-3, T (rs11568819) MMP-7 and G (rs17577) MMP-9 (OR = 2.08, pperm = 0.009), 2G (rs1799750) MMP-1, 6A (rs3025058) MMP-3 and G (rs17577) MMP-9 (OR = 2.03, pperm = 0.013), T rs4073 IL-8, AA (rs2107538) RANTES and A (rs4512021) I-TAC (OR = 2.23, pperm = 0.009), T (rs4073) IL-8, GA (rs1801157) SDF1 and AA (rs2107538) RANTES (OR = 2.80, pperm = 0.007), and the protective factors of risk of infertility in genital endometriosis combination of molecular genetic factors G (rs1042838) PGR, C (rs484389) PGR, T (rs3798577) ESR1 and C (rs2234693) ESR1 (OR = 0.44, pperm = 0.008), T (rs699517) TYMS and AA (rs1801394) MTRR (OR = 0.30, pperm = 0.022), A (rs4073) IL-8 and G( rs2107538) RANTES (OR = 0.33, pperm = 0.008). Conclusion: Polymorphism of candidate genes is associated with the development of infertility in genital endometriosis.</p></abstract><trans-abstract xml:lang="en"><p>Background: Genital endometriosis is an urgent problem of modern medicine. It is one of the hard-to-explain diseases and is the cause of reproductive health disorders, a decline in the quality of life and social disadaptation of women of any age. The aim of the study: To evaluate the relationship of genetic markers to the development of infertility in genital endometriosis. Materials and methods: The sample for the study included 428 patients with genital endometriosis: 132 patients with genital endometriosis accompanied by infertility (30.84%) and 296 patients with the onset of pregnancy (69.16%). Genotyping of 32 polymorphic loci of genes-candidates of hyperplastic diseases of the uterus was carried out. An analysis of the role of the polymorphic loci and their combinations in the formation of infertility in genital endometriosis was carried out using the APSampler software. Results: It was found that the risk factors for infertility in genital endometriosis are combinations of genetic variants T (rs243865) MMP-2, 6A (rs3025058) MMP-3, T (rs11568819) MMP-7 and G (rs17577) MMP-9 (OR = 2.08, pperm = 0.009), 2G (rs1799750) MMP-1, 6A (rs3025058) MMP-3 and G (rs17577) MMP-9 (OR = 2.03, pperm = 0.013), T rs4073 IL-8, AA (rs2107538) RANTES and A (rs4512021) I-TAC (OR = 2.23, pperm = 0.009), T (rs4073) IL-8, GA (rs1801157) SDF1 and AA (rs2107538) RANTES (OR = 2.80, pperm = 0.007), and the protective factors of risk of infertility in genital endometriosis combination of molecular genetic factors G (rs1042838) PGR, C (rs484389) PGR, T (rs3798577) ESR1 and C (rs2234693) ESR1 (OR = 0.44, pperm = 0.008), T (rs699517) TYMS and AA (rs1801394) MTRR (OR = 0.30, pperm = 0.022), A (rs4073) IL-8 and G( rs2107538) RANTES (OR = 0.33, pperm = 0.008). Conclusion: Polymorphism of candidate genes is associated with the development of infertility in genital endometriosis.</p></trans-abstract><kwd-group xml:lang="ru"><kwd>genital endometriosis</kwd><kwd>infertility</kwd><kwd>genetic polymorphism</kwd><kwd>bioinformatics</kwd></kwd-group><kwd-group xml:lang="en"><kwd>genital endometriosis</kwd><kwd>infertility</kwd><kwd>genetic polymorphism</kwd><kwd>bioinformatics</kwd></kwd-group></article-meta></front><back><ref-list><title>Список литературы</title><ref id="B1"><mixed-citation>1.&amp;nbsp;&amp;nbsp; &amp;nbsp;Ponomarenko IV, Koneva OА, Аltukhova OB. [Molecular basis of etiopathogenesis and endometriosis clinic]. Belgorod State University Scientific bulletin Medicine Pharmacy.&amp;nbsp; 2016;35(19(240)):11-16. Russian.</mixed-citation></ref><ref id="B2"><mixed-citation>2.&amp;nbsp;&amp;nbsp; &amp;nbsp;Ashrafi M, Sadatmahalleh SJ, Akhoond MR, et al. Evaluation of Risk Factors Associated with Endometriosis in Infertile Women. International Journal of Fertility &amp;amp; Sterility. 2016;10(1):11-21.</mixed-citation></ref><ref id="B3"><mixed-citation>3.&amp;nbsp;&amp;nbsp; &amp;nbsp;Rizner ТL. Diagnostic potential of peritoneal fluid biomarkers of endometriosis. Expert Review of Мolecular Diagnostics. 2015;15(14):557-580.</mixed-citation></ref><ref id="B4"><mixed-citation>4.&amp;nbsp;&amp;nbsp; &amp;nbsp;[Endometriosis: diagnosis, treatment and rehabilitation: federal clinical guidelines for managing patients]. Moscow: Nauchnyj centr akusherstva, ginekologii i perinatologii im. V.I. Kulakova; 2013. 66 p. Russian.</mixed-citation></ref><ref id="B5"><mixed-citation>5.&amp;nbsp;&amp;nbsp; &amp;nbsp;Altukhova OB, Ponomarenko IV. [The combination of the genetic variants rs12444979 and rs2241423 is associated with the development of the uterus hyperplastic processes]. Nauchnyye vedomosti BelGU. Seriya Meditsina. Farmatsiya. 2015;30(10(207)):91-96. Russian.</mixed-citation></ref><ref id="B6"><mixed-citation>6.&amp;nbsp;&amp;nbsp; &amp;nbsp;Krivoshei IV, Altuchova OB, Polonikov AV, et al. Bioinformatic Analysis of the Liability to the Hyperplastic Processes of the Uterus. Research Journal of Pharmaceutical, Biological and Chemical Sciences. 2015;6(5):1563-1566.</mixed-citation></ref><ref id="B7"><mixed-citation>7.&amp;nbsp;&amp;nbsp; &amp;nbsp;Ponomarenko IV, Altuchova OB, Golovchenko OV, et al. Molecular-genetic factors of genital endometriosis. International Journal of Pharmacy and Technology. 2016;8(2):14190-14195.</mixed-citation></ref><ref id="B8"><mixed-citation>8.&amp;nbsp;&amp;nbsp; &amp;nbsp;Аyorinde АА, Мacfarlane GJ, Saraswat L, et al. Сhronic pelvic pain in women: an epidemiological perspective. Мedical Сenter Womens Health (Lond). 2015;11(6):851-864.</mixed-citation></ref><ref id="B9"><mixed-citation>9.&amp;nbsp;&amp;nbsp; &amp;nbsp;Сhampaneria R, Shah L, Wilson MJ, et al. Сlinical effectiveness of transversus abdominis plane (ТАР) blocks for pain relief after caesarean section: a meta-analysis. International Journal of Obstetric Аnesthesia. 2016;28:45-60.</mixed-citation></ref><ref id="B10"><mixed-citation>10.&amp;nbsp;&amp;nbsp; &amp;nbsp;Soliman AM, Yang H, Du EX, et al. The direct and indirect costs associated with endometriosis: a systematic literature review. Human Reproduction. 2016;31(4):712-722.</mixed-citation></ref><ref id="B11"><mixed-citation>11.&amp;nbsp;&amp;nbsp; &amp;nbsp;Lessey DА. Аssessment of endometrial receptivity. Fertility and Sterility. 2011;96:522-529.</mixed-citation></ref><ref id="B12"><mixed-citation>12.&amp;nbsp;&amp;nbsp; &amp;nbsp;Miller JE., Ahn SH, Monsanto SP, et al. Implications of immune dysfunction on endometriosis associated infertility. Oncotarget. 2017;8(4):7138-7147.</mixed-citation></ref><ref id="B13"><mixed-citation>13.&amp;nbsp;&amp;nbsp; &amp;nbsp;Miller SA, Dykes DD. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic acids research. 1988;16(3):1215-1221.</mixed-citation></ref><ref id="B14"><mixed-citation>14.&amp;nbsp;&amp;nbsp; &amp;nbsp;Rebrova OYu. [Statistical analysis of medical data. Application of the STATISTICA software package]. Moscow: Mediasfera; 2006. 305 p. Russian.</mixed-citation></ref><ref id="B15"><mixed-citation>15.&amp;nbsp;&amp;nbsp; &amp;nbsp;Favorov AV, Andreewski TV, Sudomoina MA, et al. A Markov chain Monte Carlo technique for identification of combinations of allelic variants underlying complex diseases in humans. Genetics. 2005;171(4):2113-2121.</mixed-citation></ref><ref id="B16"><mixed-citation>16.&amp;nbsp;&amp;nbsp; &amp;nbsp;Мantena SR, Bagchi IC, Kannan A, et al. С/EBР&amp;beta; is a critical mediator of steroid hormone-regulated cell proliferation and differentiation in the uterine epithelium and stroma. Рroceedings of the National Аcademy of Sciences of the United States of Аmerica. 2006;103(6):1870-1875.</mixed-citation></ref><ref id="B17"><mixed-citation>17.&amp;nbsp;&amp;nbsp; &amp;nbsp;Wetendorf М, DeМayo FJ. Тhe progesterone receptor regulates implantation, decidualization, and glandular development via a complex paracrine signaling network. Мolecular and cellular endocrinology. 2012;357(1-2):108-118.</mixed-citation></ref><ref id="B18"><mixed-citation>18.&amp;nbsp;&amp;nbsp; &amp;nbsp;Shramko SV, Leshchenko AS, Khvostova EP, et al. [Molecular characteristics of uterine fibroids by expression of steroid receptor genes, sts, sult and pten]. Molekulyarnaya meditsina. 2013;6:39-43. Russian.</mixed-citation></ref><ref id="B19"><mixed-citation>19.&amp;nbsp;&amp;nbsp; &amp;nbsp;Pechkovskiy EV, Vainer AS, Boyarskikh UA, et al. [The allele of the RROGINS gene of the receptor of progesterone PGR is associated with the risk of breast cancer in the Western Siberian region of Russia]. Onkologiya. 2012;13:207-217. Russian.</mixed-citation></ref><ref id="B20"><mixed-citation>20.&amp;nbsp;&amp;nbsp; &amp;nbsp;Dobrolyubov AS, Lipin MA, Polyakov AV, et al. [Polymorphism of folate metabolism genes and human diseases]. Vestnik novykh meditsinskikh tekhnologiy. 2006;XIII(4):71-73. Russian.</mixed-citation></ref><ref id="B21"><mixed-citation>21.&amp;nbsp;&amp;nbsp; &amp;nbsp;Malcev DV, Natrus LV, Chuprikov AP, et al. [Clinical polymorphism of genetic deficiency of folic acid cycle enzymes]. Ukra&amp;iacute;̈ns&amp;#39;kiy nevrolog&amp;iacute;chniy zhurnal. 2016;2:7-16. Russian.</mixed-citation></ref><ref id="B22"><mixed-citation>22.&amp;nbsp;&amp;nbsp; &amp;nbsp;Malyshkina AI, Fetisova IN, Dyuzhev ZhА.&amp;nbsp;&amp;nbsp; [Genetic markers of predisposition to rapid growth of uterine leiomyoma]. Problemy reprodukcii. spec. vyp. 2012:188-189. Russian.</mixed-citation></ref><ref id="B23"><mixed-citation>23.&amp;nbsp;&amp;nbsp; &amp;nbsp;Rogova LN, Shesternina NV, Zamechnik TV, et al. [Matrix metalloproteinases, their role in physiological and pathological processes: a review]. Vestnik novykh meditsinskikh tekhnologiy. 2011;18(2):86-89. Russian.</mixed-citation></ref><ref id="B24"><mixed-citation>24.&amp;nbsp;&amp;nbsp; &amp;nbsp;Dzhemlikhanova LKh., Niauri DA, Abdulkadyrova ZK. [Uterine fibroids and the effectiveness of assisted reproductive technology programs]. Zhurnal akusherstva i zhenskikh bolezney. 2016;65(6):79-87. Russian.</mixed-citation></ref><ref id="B25"><mixed-citation>25.&amp;nbsp;&amp;nbsp; &amp;nbsp;Bersinger NА, Dechaud H, McKinnon B, et al. Аnalysis of cytokines in the peritoneal fluid of endometriosis patients as a function of the menstrual cycle stage using the Bio-Рlex&amp;reg; platform. Аrchives of Рhysiology and Biochemistry. 2012;118(4):210-218.</mixed-citation></ref><ref id="B26"><mixed-citation>26.&amp;nbsp;&amp;nbsp; &amp;nbsp;Рetraglia F, Hornung D, Seitz C, et al. Reduced pelvic pain in women with endometriosis: efficacy of long-term dienogest treatment. Аrchives of Gynecology and Obstetrics. 2012;285(1):167-173.</mixed-citation></ref><ref id="B27"><mixed-citation>27.&amp;nbsp;&amp;nbsp; &amp;nbsp;Rabbanizadeh F, Kohan L, Najib F. Аssociation between Interleukin-8-251Т/А polymorphism and endometriosis in Iranian women. Research in Мolecular Мedicine. 2015;3(2):45-49.</mixed-citation></ref><ref id="B28"><mixed-citation>&amp;nbsp;</mixed-citation></ref></ref-list></back></article>