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lncRNA ANRIL rs10757278 A>G变异与口腔鳞状细胞癌患者肿瘤大小、分级、肿瘤部位及肿瘤分期的相关性

Association of lncRNA ANRIL rs10757278 A>G Variant, Tumor Size, Grading, Tumor Site, and Tumor Stage in Oral Squamous Cell Carcinoma Patients.

作者信息

Salah Maryam, Rezaee Mostafa, Fattahi Mohamad Javad, Ghaderi Abbas, Khademi Bijan, Mokhtari Mohammad Javad

机构信息

Department of Orthodontics, School of Dentistry, Shiraz University of Medical Sciences, Shiraz, Iran.

Department of Oral Medicine, School of Dentistry, Shiraz University of Medical Sciences, Shiraz, Iran.

出版信息

Rep Biochem Mol Biol. 2024 Apr;13(1):59-66. doi: 10.61186/rbmb.13.1.59.

DOI:10.61186/rbmb.13.1.59
PMID:39582818
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11580132/
Abstract

BACKGROUND

Oral Squamous Cell Carcinoma (OSCC) is a pressing global health challenge. Long non-coding RNAs (lncRNAs) have emerged as pivotal regulators. Among these, the lncRNA ANRIL (antisense non-coding RNA in the INK4 locus) has a role in cancer progression. The aim of this study was to look into possible links between a certain genetic variant of lncRNA ANRIL, rs10757278 A/G, and OSCC risk and tumor features in the Iranian population.

METHODS

We conducted a case-control study, enrolling 101 OSCC patients and 115 healthy controls. We took out the genomic DNA and used the tetra-primer ARMS-PCR (tetra-primer amplification refractory mutation system-polymerase chain reaction) method to find the rs10757278 genotype. We evaluated the associations between genotypes and both OSCC susceptibility and various tumor characteristics.

RESULTS

Although we did not observe significant differences in allele and genotype frequencies between cases and controls, we revealed compelling associations between genotypes and tumor characteristics. Genotypes AG and GG were linked to smaller tumor sizes, while genotypes with at least one wild-type allele (A) were linked to well differentiated OSCC. Specific genotypes exhibited significant associations with tumor sites, with the tongue demonstrating the strongest correlation.

CONCLUSIONS

The rs10757278 A/G variant did not show a direct link with OSCC risk, but its complex effect on tumor behavior suggests that it may play a bigger role in the development of OSCC. These findings open avenues for future investigations to uncover hidden genetic interactions, and potentially inform more targeted therapeutic strategies.

摘要

背景

口腔鳞状细胞癌(OSCC)是一项紧迫的全球健康挑战。长链非编码RNA(lncRNAs)已成为关键调节因子。其中,lncRNA ANRIL(INK4基因座中的反义非编码RNA)在癌症进展中起作用。本研究的目的是探究lncRNA ANRIL的特定基因变体rs10757278 A/G与伊朗人群中OSCC风险和肿瘤特征之间的可能联系。

方法

我们进行了一项病例对照研究,招募了101例OSCC患者和115名健康对照。我们提取了基因组DNA,并使用四引物ARMS-PCR(四引物扩增不应突变系统-聚合酶链反应)方法来确定rs10757278基因型。我们评估了基因型与OSCC易感性和各种肿瘤特征之间的关联。

结果

尽管我们未观察到病例组和对照组之间等位基因和基因型频率的显著差异,但我们揭示了基因型与肿瘤特征之间的显著关联。AG和GG基因型与较小的肿瘤大小相关,而至少有一个野生型等位基因(A)的基因型与高分化OSCC相关。特定基因型与肿瘤部位表现出显著关联,其中舌头的相关性最强。

结论

rs10757278 A/G变体与OSCC风险没有直接联系,但其对肿瘤行为的复杂影响表明它可能在OSCC的发展中发挥更大作用。这些发现为未来研究开辟了道路,以揭示隐藏的基因相互作用,并可能为更有针对性的治疗策略提供信息。