PDF(Pubmed)
Abstract：
Individual genetic background can play an essential role in determining the development of esophageal squamous cell carcinoma (ESCC). PTPN13 and CHEK2 play important roles in the pathogenesis of ESCC. This case-control study aimed to analyze the association between gene polymorphisms and ESCC susceptibility.
DNA was extracted from the peripheral blood of patients. The Agena MassARRAY platform was used for the genotyping. Statistical analysis was conducted using the chi-squared test or Fisher\'s exact test, logistic regression analysis, and stratification analysis.
The \'G\' allele of rs989902 (PTPN13) and the \'T\' allele of rs738722 (CHEK2) were both associated with an increased risk of ESCC (rs989902: OR = 1.23, 95% CI = 1.02-1.47, p = 0.028; rs738722: OR = 1.28, 95% CI = 1.06-1.55, p = 0.011). Stratification analysis showed that SNPs (rs989902 and rs738722) were notably correlated with an increased risk of ESCC after stratification for age, sex, smoking, and drinking status. In addition, rs738722 might be associated with lower stage, while rs989902 had a lower risk of metastasis.
Our findings display that PTPN13 rs989902 and CHEK2 rs738722 are associated with an increased risk of ESCC in the Chinese Han population.
DNA was extracted from the peripheral blood of patients. The Agena MassARRAY platform was used for the genotyping. Statistical analysis was conducted using the chi-squared test or Fisher\'s exact test, logistic regression analysis, and stratification analysis.
The \'G\' allele of rs989902 (PTPN13) and the \'T\' allele of rs738722 (CHEK2) were both associated with an increased risk of ESCC (rs989902: OR = 1.23, 95% CI = 1.02-1.47, p = 0.028; rs738722: OR = 1.28, 95% CI = 1.06-1.55, p = 0.011). Stratification analysis showed that SNPs (rs989902 and rs738722) were notably correlated with an increased risk of ESCC after stratification for age, sex, smoking, and drinking status. In addition, rs738722 might be associated with lower stage, while rs989902 had a lower risk of metastasis.
Our findings display that PTPN13 rs989902 and CHEK2 rs738722 are associated with an increased risk of ESCC in the Chinese Han population.
摘要：
■个体遗传背景在决定食管鳞状细胞癌（ESCC）的发展中起着至关重要的作用。PTPN13和CHEK2在ESCC的发病机制中起重要作用。本病例对照研究旨在分析基因多态性与ESCC易感性之间的关系。
■从患者外周血中提取DNA。AgenaMassARRAY平台用于基因分型。使用卡方检验或Fisher精确检验进行统计分析，Logistic回归分析，和分层分析。
■rs989902的\'G\'等位基因（PTPN13）和rs738722的\'T'等位基因（CHEK2）均与ESCC的风险增加相关（rs989902：OR=1.23，95％CI=1.02-1.47，p=0.028；rs738722：OR=1.28-95％CI=1.55，分层分析显示，SNPs（rs989902和rs738722）与年龄分层后ESCC风险增加显著相关，性别,吸烟,和饮酒状况。此外,rs738722可能与低级相关，而rs989902具有较低的转移风险。
■我们的研究结果表明，在中国汉族人群中，PTPN13rs989902和CHEK2rs738722与ESCC风险增加相关。
■从患者外周血中提取DNA。AgenaMassARRAY平台用于基因分型。使用卡方检验或Fisher精确检验进行统计分析，Logistic回归分析，和分层分析。
■rs989902的\'G\'等位基因（PTPN13）和rs738722的\'T'等位基因（CHEK2）均与ESCC的风险增加相关（rs989902：OR=1.23，95％CI=1.02-1.47，p=0.028；rs738722：OR=1.28-95％CI=1.55，分层分析显示，SNPs（rs989902和rs738722）与年龄分层后ESCC风险增加显著相关，性别,吸烟,和饮酒状况。此外,rs738722可能与低级相关，而rs989902具有较低的转移风险。
■我们的研究结果表明，在中国汉族人群中，PTPN13rs989902和CHEK2rs738722与ESCC风险增加相关。
