Laboratory of Human and Medical Genetics, Institute of Biological Science, Federal University of Pará, Belem 66077-830, Brazil.
Oncology Research Center, Federal University of Pará, Belem 66073-005, Brazil.
Genes (Basel). 2022 Mar 11;13(3):493. doi: 10.3390/genes13030493.
Lung cancer is one of the most frequent neoplasms in the world. Because it is a complex disease, its formation occurs in several stages, stemming from interactions between environmental risk factors, such as smoking, and individual genetic susceptibility. Our objective was to investigate associations between a gene polymorphism (rs8175347) and lung cancer risk in an Amazonian population. This is a pilot study, case-controlled study, which included 276 individuals with cancer and without cancer. The samples were analyzed for polymorphisms of the gene (rs8175347) and genotyped in PCR, followed by fragment analysis in which we applied a previously developed set of informative ancestral markers. We used logistic regression to identify differences in allelic and genotypic frequencies between individuals. Individuals with the TA7 allele have an increased chance of developing lung adenocarcinoma ( = 0.035; OR: 2.57), as well as those with related genotypes of reduced or low enzymatic activity: TA6/7, TA5/7, and TA7/7 ( = 0.048; OR: 8.41). Individuals with homozygous TA7/7 have an increased chance of developing squamous cell carcinoma of the lung ( = 0.015; OR: 4.08). Polymorphism in the gene (rs8175347) may contribute as a risk factor for adenocarcinoma and lung squamous cell carcinoma in the population of the Amazon region.
肺癌是世界上最常见的肿瘤之一。由于它是一种复杂的疾病，其形成发生在几个阶段，源于环境风险因素（如吸烟）与个体遗传易感性之间的相互作用。我们的目的是研究亚马逊地区人群中一个基因多态性（rs8175347）与肺癌风险之间的关联。这是一项病例对照的初步研究，共纳入了 276 名癌症患者和非癌症患者。对基因（rs8175347）的多态性进行了分析，并在 PCR 中进行了基因分型，随后进行了片段分析，应用了先前开发的一套信息性祖先标记。我们使用逻辑回归来识别个体间等位基因和基因型频率的差异。携带 TA7 等位基因的个体发生肺腺癌的几率增加（=0.035；OR：2.57），而相关的低或低酶活性基因型 TA6/7、TA5/7 和 TA7/7 也是如此（=0.048；OR：8.41）。纯合 TA7/7 的个体发生肺鳞状细胞癌的几率增加（=0.015；OR：4.08）。基因（rs8175347）的多态性可能是亚马逊地区人群中腺癌和肺鳞状细胞癌的一个危险因素。
