E. V. Mashkina, E. S. Muzlaeva, V. V. Volchik, A. A. Shulga, E. G. Derevyanchuk
{"title":"SIRT1、CDKN2A、TP73 基因多态性与感染人类乳头瘤病毒的妇女病毒载量增加风险的关系","authors":"E. V. Mashkina, E. S. Muzlaeva, V. V. Volchik, A. A. Shulga, E. G. Derevyanchuk","doi":"10.1134/s1022795423140089","DOIUrl":null,"url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Abstract</h3><p>A high concentration of human papillomavirus (HPV) is one of the main etiological causes of cervical cancer. The formation of a clinically significant viral load involves changes in the control of the cell cycle of epithelial cells, a decrease in the effectiveness of human DNA repair and apoptosis. The aim of the work was to study the association of <i>SIRT1</i> gene rs7069102, <i>CDKN2A</i> gene rs3088440, <i>TP73</i> gene <i>G4C14-A4T14</i> polymorphisms with the risk of clinically significant viral load in HPV infection. The material for the study was DNA samples isolated from epithelial cells of the urogenital tract of women (124 HPV—infected women and 121—HPV-negative (control group)). The analysis of <i>TP73</i> gene G4C14-A4T14 polymorphism was performed by PCR-CTPP. The <i>SIRT1</i> gene rs7069102 polymorphism was analyzed by Real-Time PCR. Identification of the <i>CDKN2A</i> gene allelic variants (rs3088440) was carried out by the allele-specific PCR method followed by electrophoretic detection of the results. It was found that homozygosity for the allele <i>C</i> of the <i>SIRT1</i> gene rs7069102 polymorphism is associated with an increased risk of clinically significant viral load in HPV infection (OR = 2.59 95% CI 1.03–6.5). Two other polymorphisms (rs3088440 <i>CDKN2A</i>, <i>G4C14-A4T14</i> <i>TP73</i>) are registered with the same frequency among HPV-negative women and women with clinically significant HPV concentrations. The three-locus model of studied loci interaction is statistically significant (<i>p</i> = 0.035) and may contribute to an increase in the viral load level in HPV infection.</p>","PeriodicalId":21441,"journal":{"name":"Russian Journal of Genetics","volume":"136 1","pages":""},"PeriodicalIF":0.6000,"publicationDate":"2024-01-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Association of SIRT1, CDKN2A, TP73 Genes Polymorphisms with the Risk of Viral Load Increase in Women Infected with Human Papillomavirus\",\"authors\":\"E. V. Mashkina, E. S. Muzlaeva, V. V. Volchik, A. A. Shulga, E. G. Derevyanchuk\",\"doi\":\"10.1134/s1022795423140089\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<h3 data-test=\\\"abstract-sub-heading\\\">Abstract</h3><p>A high concentration of human papillomavirus (HPV) is one of the main etiological causes of cervical cancer. The formation of a clinically significant viral load involves changes in the control of the cell cycle of epithelial cells, a decrease in the effectiveness of human DNA repair and apoptosis. The aim of the work was to study the association of <i>SIRT1</i> gene rs7069102, <i>CDKN2A</i> gene rs3088440, <i>TP73</i> gene <i>G4C14-A4T14</i> polymorphisms with the risk of clinically significant viral load in HPV infection. The material for the study was DNA samples isolated from epithelial cells of the urogenital tract of women (124 HPV—infected women and 121—HPV-negative (control group)). The analysis of <i>TP73</i> gene G4C14-A4T14 polymorphism was performed by PCR-CTPP. The <i>SIRT1</i> gene rs7069102 polymorphism was analyzed by Real-Time PCR. Identification of the <i>CDKN2A</i> gene allelic variants (rs3088440) was carried out by the allele-specific PCR method followed by electrophoretic detection of the results. It was found that homozygosity for the allele <i>C</i> of the <i>SIRT1</i> gene rs7069102 polymorphism is associated with an increased risk of clinically significant viral load in HPV infection (OR = 2.59 95% CI 1.03–6.5). Two other polymorphisms (rs3088440 <i>CDKN2A</i>, <i>G4C14-A4T14</i> <i>TP73</i>) are registered with the same frequency among HPV-negative women and women with clinically significant HPV concentrations. The three-locus model of studied loci interaction is statistically significant (<i>p</i> = 0.035) and may contribute to an increase in the viral load level in HPV infection.</p>\",\"PeriodicalId\":21441,\"journal\":{\"name\":\"Russian Journal of Genetics\",\"volume\":\"136 1\",\"pages\":\"\"},\"PeriodicalIF\":0.6000,\"publicationDate\":\"2024-01-15\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Russian Journal of Genetics\",\"FirstCategoryId\":\"99\",\"ListUrlMain\":\"https://doi.org/10.1134/s1022795423140089\",\"RegionNum\":4,\"RegionCategory\":\"生物学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Russian Journal of Genetics","FirstCategoryId":"99","ListUrlMain":"https://doi.org/10.1134/s1022795423140089","RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
Association of SIRT1, CDKN2A, TP73 Genes Polymorphisms with the Risk of Viral Load Increase in Women Infected with Human Papillomavirus
Abstract
A high concentration of human papillomavirus (HPV) is one of the main etiological causes of cervical cancer. The formation of a clinically significant viral load involves changes in the control of the cell cycle of epithelial cells, a decrease in the effectiveness of human DNA repair and apoptosis. The aim of the work was to study the association of SIRT1 gene rs7069102, CDKN2A gene rs3088440, TP73 gene G4C14-A4T14 polymorphisms with the risk of clinically significant viral load in HPV infection. The material for the study was DNA samples isolated from epithelial cells of the urogenital tract of women (124 HPV—infected women and 121—HPV-negative (control group)). The analysis of TP73 gene G4C14-A4T14 polymorphism was performed by PCR-CTPP. The SIRT1 gene rs7069102 polymorphism was analyzed by Real-Time PCR. Identification of the CDKN2A gene allelic variants (rs3088440) was carried out by the allele-specific PCR method followed by electrophoretic detection of the results. It was found that homozygosity for the allele C of the SIRT1 gene rs7069102 polymorphism is associated with an increased risk of clinically significant viral load in HPV infection (OR = 2.59 95% CI 1.03–6.5). Two other polymorphisms (rs3088440 CDKN2A, G4C14-A4T14TP73) are registered with the same frequency among HPV-negative women and women with clinically significant HPV concentrations. The three-locus model of studied loci interaction is statistically significant (p = 0.035) and may contribute to an increase in the viral load level in HPV infection.
期刊介绍:
Russian Journal of Genetics is a journal intended to make significant contribution to the development of genetics. The journal publishes reviews and experimental papers in the areas of theoretical and applied genetics. It presents fundamental research on genetic processes at molecular, cell, organism, and population levels, including problems of the conservation and rational management of genetic resources and the functional genomics, evolutionary genomics and medical genetics.