Association between the variations in metabolic pathways and oral cancer risk: results from a Pakistani case-control study.

IF 2.6 4区生物学 Q3 BIOCHEMISTRY & MOLECULAR BIOLOGY

Molecular Biology Reports Pub Date : 2024-11-19 DOI:10.1007/s11033-024-10100-y

Arifa Shabbir, Muhammad Usman Rashid, Ezzat M Awad, Humaira Naeemi, Talin Barisani-Asenbauer, Naila Malkani

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引用次数: 0

Abstract

Background: Oral cancer (OC) is a significant global health concern, with Pakistan ranking 5th worldwide in OC incidence. Given the poor prognosis, early detection of at-risk individuals is crucial. Genetic factors, particularly single nucleotide polymorphisms (SNPs) in metabolic genes, may influence OC susceptibility. This study investigated the association between SNPs in CYP1A1, COX2, SOD2, and HIF1a genes and OC risk in the Pakistani population.

Methods: A prospective study was conducted from October 2019 to March 2022, enrolling 215 newly diagnosed OC patients and 410 controls. Genetic variations were analyzed using High-Resolution Melting (HRM) analysis and Sanger sequencing, with protein expression evaluated by ELISA.

Results: No significant associations were found between the studied SNPs and OC risk. However, a non-significant trend was observed for the SOD2 variant (rs4880), where the G allele was associated with a higher OC risk than the A allele (p = 0.20). Elevated COX2 and HIF1α levels (p-values of 0.014 and < 0.001, respectively) and reduced SOD2 levels (p < 0.0001) were observed in OC patients, while CYP1A1 levels remained similar in both controls and cases.

Conclusion: Although SNPs in CYP1A1, COX2, SOD2, and HIF1α were not significantly associated with OC risk in the Pakistani population, altered protein expression levels of COX2, HIF1α and SOD2 suggest additional regulatory mechanisms. Further investigation into post-transcriptional modifications and epigenetic factors could lead to novel biomarkers and therapeutic targets for OC in Pakistan.

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代谢途径变异与口腔癌风险之间的关系：一项巴基斯坦病例对照研究的结果。

背景：口腔癌（OC）是全球关注的重大健康问题，巴基斯坦的口腔癌发病率在全球排名第五。鉴于预后不良，早期发现高危人群至关重要。遗传因素，尤其是代谢基因中的单核苷酸多态性（SNPs），可能会影响 OC 的易感性。本研究调查了巴基斯坦人群中CYP1A1、COX2、SOD2和HIF1a基因中的SNPs与OC风险之间的关联：一项前瞻性研究于 2019 年 10 月至 2022 年 3 月进行，共纳入 215 名新诊断的 OC 患者和 410 名对照者。采用高分辨率熔融（HRM）分析和桑格测序法分析基因变异，并用酶联免疫吸附法评估蛋白质表达：结果：所研究的 SNP 与 OC 风险之间没有发现明显的关联。然而，SOD2 变体（rs4880）出现了非显著趋势，G 等位基因比 A 等位基因与更高的 OC 风险相关（p = 0.20）。COX2 和 HIF1α 水平升高（p 值分别为 0.014 和 0.015）：尽管在巴基斯坦人群中，CYP1A1、COX2、SOD2 和 HIF1α 的 SNPs 与 OC 风险无显著相关性，但 COX2、HIF1α 和 SOD2 蛋白表达水平的改变提示了其他调控机制。对转录后修饰和表观遗传因素的进一步研究可能会为巴基斯坦的 OC 找到新的生物标记物和治疗靶点。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Molecular Biology Reports 生物-生化与分子生物学

CiteScore

5.00

自引率

0.00%

发文量

1048

审稿时长

5.6 months

期刊介绍： Molecular Biology Reports publishes original research papers and review articles that demonstrate novel molecular and cellular findings in both eukaryotes (animals, plants, algae, funghi) and prokaryotes (bacteria and archaea).The journal publishes results of both fundamental and translational research as well as new techniques that advance experimental progress in the field and presents original research papers, short communications and (mini-) reviews.