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XRCC1、XRCC2、XRCC3和TP53基因多态性与胃肠道癌风险的交互关联:一项基于医院的病例对照研究的见解

Interactive Association of XRCC1, XRCC2, XRCC3, and TP53 Gene Polymorphisms With Gastrointestinal Cancer Risk: Insights From a Hospital-Based Case-Control Study.

作者信息

Datkhile Kailas D, Gudur Rashmi, Patil Madhavi N, Gudur Anand

机构信息

Department of Molecular Biology and Genetics, Krishna Vishwa Vidyapeeth (Deemed to be University), Karad, IND.

Department of Oncology, Krishna Vishwa Vidyapeeth (Deemed to be University), Karad, IND.

出版信息

Cureus. 2024 Jun 7;16(6):e61921. doi: 10.7759/cureus.61921. eCollection 2024 Jun.

Abstract

BACKGROUND AND AIM

Gastrointestinal (GI) cancer presents a significant worldwide health burden, influenced by a combination of genetic and environmental factors. This study endeavors to explore the combined effects of the , , , and genes that contribute to the heightened risk of GI cancer, shedding light on their combined influence on cancer susceptibility.

MATERIALS AND METHODS

A total of 200 histologically confirmed cases of GI cancer and an equal number of controls were selected to examine genetic polymorphisms within the , , , and genes using the polymerase chain reaction-based restriction fragment length polymorphism (PCR-RFLP). Odds ratios (OR) with 95% confidence intervals (CI) were calculated to assess the association of these polymorphisms with GI cancer susceptibility, with statistical significance (p ≤ 0.05).

RESULTS

Logistic regression analysis confirmed strong evidence of synergistic interactions among specific variant genotypes. Notably, combinations such as heterozygous Arg/Ser+Ser/Ser genotype of Arg249Ser polymorphism with Arg/Trp+Trp/Trp genotype of Arg194Trp polymorphism (OR=2.64; 95% CI: 1.35-5.18; p=0.004), Arg/Gln+Gln/Gln genotype of at codon 399 (OR=5.04; 95% CI: 2.81-9.05; p=0.0001), Arg/His and His/His genotypes of Arg188His (OR=2.16; 95% CI: 1.06-4.39; p<0.032), and Thr/Met+Met/Met genotype of Thr242Met (OR=3.48; 95% CI: 1.79-6.77; p=0.0002) showed significant associations with GI cancer risk in the study population.

CONCLUSIONS

The findings indicate a notable association between the combined effect of heterozygous variant genotypes of and variant genotypes of , , and on GI cancer risk. However, further research with a larger sample size and broad single nucleotide polymorphism (SNP) spectra is necessary to understand the interaction between genetic variations and environmental factors influencing GI cancer susceptibility.

摘要

背景与目的

胃肠道(GI)癌在全球范围内造成了重大的健康负担,受遗传和环境因素的综合影响。本研究旨在探索 、 、 及 基因的联合作用,这些基因会增加患胃肠道癌的风险,以阐明它们对癌症易感性的联合影响。

材料与方法

选取200例经组织学确诊的胃肠道癌病例及数量相等的对照,采用基于聚合酶链反应的限制性片段长度多态性(PCR-RFLP)技术检测 、 、 及 基因内的遗传多态性。计算比值比(OR)及95%置信区间(CI),以评估这些多态性与胃肠道癌易感性的关联,具有统计学意义(p≤0.05)。

结果

逻辑回归分析证实了特定变异基因型之间存在协同相互作用的有力证据。值得注意的是,如 基因Arg249Ser多态性的杂合子Arg/Ser+Ser/Ser基因型与 基因Arg194Trp多态性的Arg/Trp+Trp/Trp基因型组合(OR=2.64;95%CI:1.35 - 5.18;p=0.004)、 基因第399密码子的Arg/Gln+Gln/Gln基因型(OR=5.04;95%CI:2.81 - 9.05;p=0.0001)、 基因Arg188His的Arg/His和His/His基因型(OR=2.16;95%CI:1.06 - 4.39;p<0.032)以及 基因Thr242Met的Thr/Met+Met/Met基因型(OR=3.48;95%CI:1.79 - 6.77;p=0.0002)在研究人群中与胃肠道癌风险存在显著关联。

结论

研究结果表明, 基因的杂合变异基因型与 、 及 基因的变异基因型的联合作用与胃肠道癌风险之间存在显著关联。然而,需要进行更大样本量和更广泛单核苷酸多态性(SNP)谱的进一步研究,以了解影响胃肠道癌易感性的遗传变异与环境因素之间的相互作用。

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