2026 年第 4 期 第 21 卷

宫颈癌遗传易感性相关基因多态性研究进展

Research progress on gene polymorphisms related to genetic susceptibility of cervical cancer

作者：刘佩芬1刘佳伟2张彩霞1索静1

英文作者：Liu Peifen1 Liu Jiawei2 Zhang Caixia1 Suo Jing1

单位：1内蒙古医科大学附属医院妇产科，呼和浩特010050；2内蒙古自治区肿瘤医院妇科，呼和浩特010050

英文单位：1Department of Obstetrics and Gynecology the Affiliated Hospital of Inner Mongolia Medical University Hohhot 010050 China; 2Department of Gynecology Cancer Hospital of Inner Mongolia Autonomous Region Hohhot 010050 China

关键词：宫颈癌；基因多态性；代谢；细胞周期；长链非编码RNA

英文关键词：

• 摘要：

• 宫颈癌作为妇科常见恶性肿瘤，其发生主要与人乳头瘤病毒（HPV）持续感染有关，但感染者进展为癌症的比例存在显著个体差异，提示宿主遗传因素在疾病发生发展中起关键作用。本文综述了影响宫颈癌易感性的多类基因多态性及其机制，人类白细胞抗原基因多态性通过影响抗原呈递效率调控细胞免疫应答；先天性免疫与炎症反应相关基因的变异可改变机体清除HPV及抑制肿瘤的能力。细胞周期调控与DNA修复基因X射线修复交叉互补蛋白1和3的多态性可能导致修复能力下降；肿瘤相关基因乳腺癌易感基因1相互作用蛋白C端解旋酶1的高表达可通过磷脂酰肌醇-3-激酶/蛋白激酶B/哺乳动物雷帕霉素靶蛋白通路促进肿瘤进展；解毒代谢基因谷胱甘肽硫转移酶M1的缺失型则削弱机体解毒与抗氧化功能，增加患病风险。这些遗传变异与HPV感染及炎症微环境相互作用，共同构成宫颈癌的复杂遗传易感背景，为疾病风险预测、高危筛查及个体化防治提供了重要分子依据。

• As a common gynecological malignancy, cervical cancer is mainly associated with persistent human papillomavirus (HPV) infection. However, there are significant individual differences in the proportion of infected individuals progressing to cancer, suggesting that host genetic factors play a key role in the occurrence and development of the disease. This article reviews various gene polymorphisms affecting cervical cancer susceptibility and their mechanisms. Human leukocyte antigen gene polymorphisms regulate cellular immune responses by affecting the efficiency of antigen presentation. Variations in genes related to innate immunity and inflammatory response can alter the body′s ability to clear HPV and inhibit tumors. Polymorphisms of cell cycle regulation and DNA repair genes X-ray repair cross-complementing protein 1 and 3 may lead to decreased repair capacity. High expression of tumor-associated gene breast cancer susceptibility gene 1 interacting protein C-terminal helicase 1 can promote tumor progression through the phosphatidylinositol 3-kinase/protein kinase B/mammalian target of rapamycin pathway. The deletion type of detoxification metabolism gene glutathione S-transferase M1 weakens the body′s detoxification and antioxidant functions, increasing the risk of disease. These genetic variations interact with HPV infection and inflammatory microenvironment, jointly forming a complex genetic susceptibility background of cervical cancer, and providing an important molecular basis for disease risk prediction, high-risk screening, and individualized prevention and treatment.