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PD-1 基因 rs10204525 和 rs7421861 多态性与汉族人群食管癌的发病风险增加及临床特征相关。

PD-1 gene rs10204525 and rs7421861 polymorphisms are associated with increased risk and clinical features of esophageal cancer in a Chinese Han population.

机构信息

Department of Thoracic Surgery, The Affiliated Huaian No.1 People's Hospital of Nanjing Medical University, Huaian, Jiangsu, China.

出版信息

Aging (Albany NY). 2020 Feb 21;12(4):3771-3790. doi: 10.18632/aging.102845.

DOI:10.18632/aging.102845
PMID:32084010
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7066885/
Abstract

() polymorphisms have been associated with esophageal cancer risk. Here, the aims of this case-control study were to explore whether three polymorphisms (rs10204525, rs7421861, and rs36084323) were related with the risk and clinical features of esophageal cancer in Chinese Han subjects (n = 814 cases and 961 controls). We found that rs10204525 and rs7421861, but not rs36084323, conferred increased susceptibility to esophageal cancer. Subgroup analysis revealed that all three loci increased the risk of esophageal cancer among men, and that rs10204525 and rs7421861 correlated with increased risk among patients ≥ 60 years old. The rs10204525 and rs7421861 polymorphisms were associated with higher TNM stage, and rs10204525 was associated with distant metastasis. The combination of smoking and either the rs10204525 or rs7421861 genotype conferred an increased risk to esophageal cancer, which is indicative of potential gene-environment interactions. The rs10204525 and rs7421861 polymorphisms correlated with increased PD-1 gene and protein levels, and Kaplan-Meier survival curves showed higher gene expression was related to poorer overall survival. These data indicate the rs10204525 and rs7421861 polymorphisms of gene confer an increased risk of esophageal cancer among Chinese Han individuals.

摘要

基因多态性与食管癌风险相关。本病例对照研究旨在探讨三个基因多态性(rs10204525、rs7421861 和 rs36084323)是否与中国汉族人群食管癌的风险和临床特征相关(病例 814 例,对照 961 例)。我们发现 rs10204525 和 rs7421861 但不是 rs36084323 增加了食管癌的易感性。亚组分析显示,这三个位点均增加了男性食管癌的风险,rs10204525 和 rs7421861 与 60 岁以上患者的风险增加相关。rs10204525 和 rs7421861 多态性与更高的 TNM 分期相关,rs10204525 与远处转移相关。吸烟与 rs10204525 或 rs7421861 基因型的组合增加了食管癌的风险,表明存在潜在的基因-环境相互作用。rs10204525 和 rs7421861 多态性与 PD-1 基因和蛋白水平的升高相关,Kaplan-Meier 生存曲线显示基因表达水平升高与总体生存率降低相关。这些数据表明基因的 rs10204525 和 rs7421861 多态性增加了中国汉族人群食管癌的风险。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3e39/7066885/461ae583e160/aging-12-102845-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3e39/7066885/54c2a85d939f/aging-12-102845-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3e39/7066885/706229dafbcc/aging-12-102845-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3e39/7066885/461ae583e160/aging-12-102845-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3e39/7066885/54c2a85d939f/aging-12-102845-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3e39/7066885/706229dafbcc/aging-12-102845-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3e39/7066885/461ae583e160/aging-12-102845-g003.jpg

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