位于、、基因 3'UTR 区域的多态性与喉鳞状细胞癌的关联。

Associations of Polymorphisms Localized in the 3'UTR Regions of the , , Genes with Laryngeal Squamous Cell Carcinoma.

机构信息

Institute of Biology Systems and Genetic Research, Lithuanian University of Health Sciences, 50103 Kaunas, Lithuania.

Department of Otorhinolaryngology, Lithuanian University of Health Sciences, 50161 Kaunas, Lithuania.

出版信息

Genes (Basel). 2021 Oct 23;12(11):1679. doi: 10.3390/genes12111679.

DOI:10.3390/genes12111679

PMID:34828284

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8625477/

Abstract

BACKGROUND

Genetic variations, localized in the 3' untranslated region (UTR) in mitogen-activated protein kinase (MAPK) pathway-related genes, may alter the transcription and impact the pathogenesis of laryngeal squamous cell carcinoma (LSCC). The present study investigated the associations of single-nucleotide polymorphisms (SNP), localized in the 3'UTR) of the , and genes with LSCC risk and clinicopathological features.

METHODS

Genomic DNA and clinical data were collected from 327 adult men with LSCC. The control group was formed from 333 healthy men. Genotyping of the SNPs was performed using TaqMan SNP genotyping assays. Five , and polymorphisms were analyzed. All studied genotypes were in Hardy-Weinberg equilibrium and had the same allele distribution as the 1000 Genomes project Phase 3 dataset for the European population.

RESULTS

Significant associations of the studied SNPs with reduced LSCC risk were observed between rs14804 major genotype CC. Significant associations of the studied SNPs with clinicopathologic variables were also observed between rs14804 minor T allele and advanced tumor stage and positive lymph node status. SNP of rs9340 was associated with distant metastasis. Moreover, haplotype analysis of two SNPs rs712 and rs7973450 revealed that TG haplotype was associated with positive lymph node status in LSCC patients.

CONCLUSIONS

According to the present study, 3'UTR SNP in the and genes may contribute to the identifications of patients at higher risk of LSCC lymph node and distant metastasis development.

摘要

背景

细胞外信号调节激酶（MAPK）通路相关基因 3'非翻译区（UTR）中的遗传变异可能改变转录并影响喉鳞状细胞癌（LSCC）的发病机制。本研究探讨了 3'UTR 中、和基因的单核苷酸多态性（SNP）与 LSCC 风险和临床病理特征的关系。

方法

收集了 327 名成年 LSCC 男性患者的基因组 DNA 和临床资料。对照组由 333 名健康男性组成。采用 TaqMan SNP 基因分型检测方法对 SNP 进行基因分型。分析了 5 个、和基因的多态性。所有研究的基因型均处于哈迪-温伯格平衡状态，且与欧洲人群 1000 基因组计划第三阶段数据集的等位基因分布相同。

结果

研究发现， rs14804 主要基因型 CC 与 LSCC 风险降低显著相关。 rs14804 中的次要 T 等位基因与肿瘤晚期和阳性淋巴结状态之间也存在显著关联。SNP rs9340 与远处转移有关。此外，两个 SNPs rs712 和 rs7973450 的单倍型分析表明，LSCC 患者中 TG 单倍型与阳性淋巴结状态有关。