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西班牙人群头颈部鳞状细胞癌的遗传易感性

Genetic Susceptibility in Head and Neck Squamous Cell Carcinoma in a Spanish Population.

作者信息

Fernández-Mateos Javier, Seijas-Tamayo Raquel, Adansa Klain Juan Carlos, Pastor Borgoñón Miguel, Pérez-Ruiz Elisabeth, Mesía Ricard, Del Barco Elvira, Salvador Coloma Carmen, Rueda Dominguez Antonio, Caballero Daroqui Javier, Fernández Ruiz Encarnación, Ocana Alberto, González-Sarmiento Rogelio, Cruz-Hernández Juan Jesús

机构信息

Medical Oncology Service, University Hospital of Salamanca-IBSAL, 37007 Salamanca, Spain.

Biomedical Research Institute of Salamanca (IBSAL), SACYL-University of Salamanca-CSIC, 37007 Salamanca, Spain.

出版信息

Cancers (Basel). 2019 Apr 7;11(4):493. doi: 10.3390/cancers11040493.

Abstract

Despite classical environmental risk factors like tobacco, alcohol or viral infection, not all individuals develop head and neck cancer. Therefore, identification of the genetic susceptibility produced by single nucleotide polymorphisms (SNPs) is an important task. A total of 296 human papillomavirus negative head and neck cancer (HNC) patients (126 laryngeal, 100 pharyngeal and 70 oral cavity) were included in the study, involving 29 candidate SNPs in genes within important carcinogenic pathways (oncogenesis and tumour suppression, DNA repair, inflammation, oxidation and apoptosis). Genotyping was performed using TaqMan probes or restriction fragment length assays in peripheral blood DNA. In addition, 259 paired controls were also evaluated with the same risk factors for each specific location. Nine SNPs in DNA repair ( rs11615, rs13181), inflammatory ( rs2069762, rs1800795), oxidative ( rs13035806 and rs2706110) and apoptotic genes ( rs1042522, rs2279744, rs2279115) were differently associated with HNSCC susceptibility by location. Some of these SNPs were not described before in this tumour type. In conclusion, we describe several SNPs associated with HNC in a Spanish population.

摘要

尽管存在烟草、酒精或病毒感染等典型的环境风险因素,但并非所有个体都会患上头颈癌。因此,识别由单核苷酸多态性(SNP)产生的遗传易感性是一项重要任务。该研究共纳入了296例人乳头瘤病毒阴性的头颈癌(HNC)患者(126例喉癌、100例咽癌和70例口腔癌),涉及重要致癌途径(肿瘤发生和肿瘤抑制、DNA修复、炎症、氧化和凋亡)相关基因中的29个候选SNP。采用TaqMan探针或限制性片段长度分析法对外周血DNA进行基因分型。此外,还对259对配对对照进行了相同危险因素的评估,以确定每个特定部位的情况。DNA修复(rs11615、rs13181)、炎症(rs2069762、rs1800795)、氧化(rs13035806和rs2706110)和凋亡基因(rs1042522、rs2279744、rs2279115)中的9个SNP与不同部位的HNSCC易感性存在不同关联。其中一些SNP此前在这种肿瘤类型中未曾被描述过。总之,我们描述了西班牙人群中与HNC相关的几个SNP。

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