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GAS5基因rs145204276插入/缺失多态性与罗马尼亚人群的结直肠癌易感性相关。

GAS5 rs145204276 Ins/Del Polymorphism Is Associated with CRC Susceptibility in a Romanian Population.

作者信息

Mirea Cecil Sorin, Schenker Michael, Petre-Mandache Bianca, Cucu Mihai-Gabriel, Camen Georgiana-Cristiana, Vîlcea Ionică Daniel, Albu Bogdan Cristian, Obleagă Cosmin Vasile, Ciorbagiu Mihai Călin, Streață Ioana, Pleșea Răzvan Mihail, Riza Anca-Lelia, Burada Florin

机构信息

Department of Surgery, University of Medicine and Pharmacy of Craiova, 200349 Craiova, Romania.

Department of Surgery, Emergency Clinical County Hospital, 200642 Craiova, Romania.

出版信息

Int J Mol Sci. 2025 Mar 27;26(7):3078. doi: 10.3390/ijms26073078.

DOI:10.3390/ijms26073078
PMID:40243746
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11988689/
Abstract

Colorectal cancer (CRC) is a leading cause of cancer-related morbidity and mortality, influenced by both genetic and epigenetic factors. Long non-coding RNAs (lncRNAs) such as GAS5 and CASC8 have been implicated in cancer susceptibility. This study aimed to assess the association of GAS5 rs145204276 ins/del and CASC8 rs10505477 A>G polymorphisms with CRC risk in a Romanian population. A case-control study was conducted, including 156 CRC patients and 195 healthy controls. Genotyping for GAS5 and CASC8 polymorphisms was performed using real-time PCR, and the association with CRC risk was evaluated using logistic regression to calculate odds ratios (OR) and 95% confidence intervals (CI). The carriers of GAS5 rs145204276 del allele was significantly associated with increased CRC risk (OR: 2.13, 95% CI: 1.24-3.63, = 0.005) in a dominant model. In the subgroup analysis, the association of GAS5 rs145204276 ins/del polymorphism was restricted to distal colon cancer cases (OR: 2.98, 95% CI: 1.57-5.66, = 0.001), advanced tumor stages (III + IV) (OR: 2.54, 95% CI: 1.31-4.91, = 0.007), and poorly differentiated tumors (G3) (OR: 3.98, 95% CI: 1.49-10.59, = 0.009). No significant correlation was found for the CASC8 rs10505477 A>G polymorphism. GAS5 rs145204276 polymorphism may influence CRC susceptibility, particularly in distal tumors and advanced stages. However, CASC8 rs10505477 polymorphism showed no association with CRC risk in this Romanian cohort.

摘要

结直肠癌(CRC)是癌症相关发病和死亡的主要原因之一,受到遗传和表观遗传因素的影响。长链非编码RNA(lncRNA)如GAS5和CASC8与癌症易感性有关。本研究旨在评估罗马尼亚人群中GAS5 rs145204276插入/缺失和CASC8 rs10505477 A>G多态性与CRC风险的关联。进行了一项病例对照研究,包括156例CRC患者和195例健康对照。使用实时PCR对GAS5和CASC8多态性进行基因分型,并使用逻辑回归计算比值比(OR)和95%置信区间(CI)来评估与CRC风险的关联。在显性模型中,GAS5 rs145204276缺失等位基因的携带者与CRC风险增加显著相关(OR:2.13,95% CI:1.24 - 3.63,P = 0.005)。在亚组分析中,GAS5 rs145204276插入/缺失多态性的关联仅限于远端结肠癌病例(OR:2.98,95% CI:1.57 - 5.66,P = 0.001)、晚期肿瘤阶段(III + IV)(OR:2.54,95% CI:1.31 - 4.91,P = 0.007)和低分化肿瘤(G3)(OR:3.98,95% CI:1.49 - 10.59,P = 0.009)。未发现CASC8 rs10505477 A>G多态性有显著相关性。GAS5 rs145204276多态性可能影响CRC易感性,特别是在远端肿瘤和晚期阶段。然而,在这个罗马尼亚队列中,CASC8 rs10505477多态性与CRC风险无关。