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该基因的rs25487和该基因多态性的rs13181与卵巢癌风险的关联。

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

作者信息

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

机构信息

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.

N.M. Emanuel Institute of Biochemical Physics of Russian Academy of Sciences, Moscow, Russia.

出版信息

Biomol Biomed. 2025 Apr 3;25(5):1197-1204. doi: 10.17305/bb.2024.11314.

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.

摘要

卵巢癌(OC)是全球最致命的妇科癌症。DNA损伤在癌症发展中起重要作用,XRCC1和ERCC2编码的蛋白质是DNA修复系统的重要组成部分。本研究旨在探讨rs25487 XRCC1和rs13181 ERCC2基因多态性与莫斯科地区女性OC发生风险之间的关系。从129名健康供者的血液以及125名OC患者的组织和血液样本中提取DNA,并使用实时PCR进行研究。对于rs25487 XRCC1的T等位基因,OC组织和血液的优势比(OR)均升高(OR = 1.46,95%置信区间[CI] = 1.22 - 1.76,P = 0.00005),对于T/T基因型也是如此。使用共显性模型(OR = 2.11,95% CI = 1.44 - 3.07,P = 0.00006)和显性模型(OR = 3.13,95% CI = 1.44 - 6.79,P = 0.0025)对合并的血液和组织组进行分析时,T/T基因型的OR值最为显著。对于rs13181 ERCC2,在共显性模型中,OC组织中T/G基因型存在差异(OR = 0.69,95% CI = 0.51 - 0.92,P = 0.011)。本研究显示了rs25487 XRCC1的T等位基因和基因型以及rs13181 ERCC2的T/G与OC的关联。我们的结果表明,这些多态性可能参与OC的发病机制,并且在OC治疗应用的进一步研究中具有前景。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dad9/11984361/49cdc280a26e/bb-2024-11314f1.jpg

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