The pertinence of resistin gene single nucleotide polymorphism G > A and its expression in oral cancer

IF 2.6 3区生物学 Q2 GENETICS & HEREDITY

Gene Pub Date : 2024-10-30 DOI:10.1016/j.gene.2024.149062

Kiran Arif , Fouzia Shaikh , Rizma Khan , Faraz Ahmed Baig , Talat Mirza

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Abstract

Background/aim

Oral cancer (OC) is the leading cause of fatalities in Pakistan among males due to inadequate oral hygiene and chewing habits. However, genetic susceptibility patterns also play a critical role in disease progression. Since the frequency of Resistin (RETN) SNP (Single nucleotide polymorphism) rs3219175 is unknown; there is a requirement for early diagnosis of the OC. Therefore, the current study aims to determine the frequency of targeted SNP and develop a safe, simple, and fast alternative technique for better treatment using a real-time PCR assay with HRM (high-resolution melting curve) analysis.

Materials and methods

A case-control study was conducted on 35 Oral squamous cell carcinomas (OSCC) diagnosed patients and 35 healthy individuals. HRM and RT-PCR results were analysed by the bioinformatics analyses.

Results

The frequency of RETN SNP rs3219175 genotypes GG and GA in male patients was 16 (46 %) and 5 (14 %) respectively and in females 8 (23 %) and 6 (17 %) respectively. The chi-square test of independence consummated the assessment between males and females in both control and patients. The relation between these variables was significant (p < 0.05). The interaction network of String 8.3 demonstrates strong interactions at a high confidence score, which helps to characterize functional disorders that may be a causative factor for oral pathology. Reactome and KEGG data were acquired to rule out the pathway involvement of the targeted gene. MuPIT software was used to identify the 3D structure or RETN and their expected mutation effect.

Conclusion

This study provides baseline data regarding the frequency of RETN SNP rs3219175 among the Pakistani population. For further clarification of their stage in cancer emergence and growth, large-scale studies must be conducted. This study might be helpful in the precision medicine approach and provide better therapeutic for OSCC patients.

Abstract Image

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抗阻素基因单核苷酸多态性 G > A 及其在口腔癌中表达的相关性。

背景/目的：在巴基斯坦，由于口腔卫生和咀嚼习惯不足，口腔癌（OC）是导致男性死亡的主要原因。然而，遗传易感性模式在疾病进展中也起着至关重要的作用。由于 Resistin (RETN) SNP（单核苷酸多态性）rs3219175 的频率尚不清楚，因此需要对口腔癌进行早期诊断。因此，本研究旨在确定目标 SNP 的频率，并开发一种安全、简单、快速的替代技术，利用实时 PCR 分析和 HRM（高分辨率熔解曲线）分析进行更好的治疗：对35名确诊的口腔鳞状细胞癌（OSCC）患者和35名健康人进行了病例对照研究。通过生物信息学分析对 HRM 和 RT-PCR 结果进行了分析：男性患者中 RETN SNP rs3219175 基因型 GG 和 GA 的频率分别为 16 (46 %) 和 5 (14 %)，女性患者中分别为 8 (23 %) 和 6 (17 %)。独立的卡方检验完成了对对照组和患者中男性和女性的评估。这些变量之间的关系是显著的（P本研究提供了有关巴基斯坦人群中 RETN SNP rs3219175 频率的基线数据。要进一步明确它们在癌症发生和发展中的作用，必须进行大规模的研究。这项研究可能有助于精准医疗方法，为 OSCC 患者提供更好的治疗。

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

Gene 生物-遗传学

CiteScore

6.10

自引率

2.90%

发文量

718

审稿时长

42 days

期刊介绍： Gene publishes papers that focus on the regulation, expression, function and evolution of genes in all biological contexts, including all prokaryotic and eukaryotic organisms, as well as viruses.