The association of rs25487 of the XRCC1 gene and rs13181 of the ERCC2 gene polymorphisms with the ovarian cancer risk

Tatiana Zavarykina; Maria Kapralova; Polina Lomskova; Aleksandra  Asaturova; Grigory  Khabas; Lyailya  Kayumova; Dmitry  Khodyrev; Irina  Pronina; Maya  Sannikova; Svetlana  Khokhlova

doi:10.17305/bb.2024.11314

Authors

Tatiana Zavarykina N.M. Emanuel Institute of Biochemical Physics of Russian Academy of Sciences, Moscow, Russia; "B.I. Kulakov National Medical Research Center of Obstetrics, Gynecology, and Perinatology", Ministry of Health of the Russian Federation, Moscow, Russia https://orcid.org/0000-0002-5993-6351
Maria Kapralova N.M. Emanuel Institute of Biochemical Physics of Russian Academy of Sciences, Moscow, Russia https://orcid.org/0000-0003-3010-3994
Polina Lomskova N.M. Emanuel Institute of Biochemical Physics of Russian Academy of Sciences, Moscow, Russia
Aleksandra Asaturova "B.I. Kulakov National Medical Research Center of Obstetrics, Gynecology, and Perinatology", Ministry of Health of the Russian Federation, Moscow, Russia https://orcid.org/0000-0001-8739-5209
Grigory Khabas "B.I. Kulakov National Medical Research Center of Obstetrics, Gynecology, and Perinatology", Ministry of Health of the Russian Federation, Moscow, Russia
Lyailya Kayumova Sechenov First Moscow State Medical University (Sechenov University), Moscow, Russia https://orcid.org/0000-0003-0301-737X
Dmitry Khodyrev Federal Scientific and Clinical Center of Specialized Types of Medical Care and Medical Technologies, Federal Medical and Biological Agency of the Russian Federation, Moscow, Russia
Irina Pronina N.M. Emanuel Institute of Biochemical Physics of Russian Academy of Sciences, Moscow, Russia; Institute of General Pathology and Pathophysiology, Moscow, Russia https://orcid.org/0000-0002-0423-7801
Maya Sannikova "B.I. Kulakov National Medical Research Center of Obstetrics, Gynecology, and Perinatology", Ministry of Health of the Russian Federation, Moscow, Russia; Yaroslav-the-Wise Novgorod State University, Novgorod, Russia
Svetlana Khokhlova "B.I. Kulakov National Medical Research Center of Obstetrics, Gynecology, and Perinatology", Ministry of Health of the Russian Federation, Moscow, Russia https://orcid.org/0000-0002-4597-172X

DOI:

https://doi.org/10.17305/bb.2024.11314

Keywords:

ovarian cancer, OC, DNA repair, XRCC1 gene, ERCC2 gene, polymorphism, odds ratio, OR, rs25487, rs13181

Abstract

Ovarian cancer (OC) is the most lethal gynecological cancer worldwide. DNA damage plays an important role in cancer development, and the proteins encoded by XRCC1 and ERCC2 are important components of the DNA repair system. This study aimed to examine the relationship between the rs25487 XRCC1 and rs13181 ERCC2 polymorphisms and the risk of OC development in women from the Moscow region. DNA was isolated from the blood of 129 healthy donors and tissues and blood samples from 125 patients with OC and studied using real-time PCR. An increase in odds ratios (OR) was obtained for OC tissue and blood for both T (OR = 1.46, 95% confidence interval [CI] = 1.22–1.76, P = 0.00005), and for T/T of rs25487 XRCC1. The most significant OR values were found for the T/T genotype using the codominant model (OR = 2.11, 95% CI = 1.44–3.07, P = 0.00006) and dominant model (OR = 3.13, 95% CI = 1.44–6.79, P = 0.0025) for the pooled blood and tissue groups. For rs13181 ERCC2, differences were observed for the T/G genotype in OC tissues (OR = 0.69, 95% CI = 0.51–0.92, P = 0.011) in the codominant model. In this study, the association of allele T and genotypes of rs25487 XRCC1 and T/G of rs13181 ERCC2 with OC was shown. Our results indicate that these polymorphisms may be involved in the pathogenesis of OC and are promising for further studies on therapeutic applications in OC.