Li Mingna, Zhang Wenbo, Liu Chao, Shi Yijun, Tang Weifeng, Chen Suocheng, Gu Haiyong, Yin Jun, Zhang Zhihong, Jiang Pengcheng
a Department of Pathology , The First Affiliated Hospital of Nanjing Medical University , Nanjing , PR China ;
b Department of General Surgery , Affiliated People's Hospital of Jiangsu University , Zhenjiang , PR China ;
Biomarkers. 2016 Sep;21(6):523-9. doi: 10.3109/1354750X.2016.1160425. Epub 2016 Apr 6.
Esophageal cancer was the fifth most commonly diagnosed cancer and the fourth leading cause of cancer-related death in China in 2009. Esophageal squamous cell carcinoma (ESCC) accounts for more than 90% of esophageal cancers. Besides environmental risk factors, genetic factors such as single-nucleotide polymorphisms (SNPs) play an important role in ESCC carcinogenesis. We performed a hospital-based case-control study to evaluate the Forkhead-box protein A1 (FOXA1) rs12894364 C > T, rs2145146 C > A and rs7144658 T > C tag SNPs in the risk of developing ESCC. We recruited 629 ESCC cases and 686 controls. Genotypes were determined using ligation detection reaction. Logistic regression analyses revealed that the three FOXA1 SNPs were not associated with ESCC risk. However, there was significantly decreased ESCC risk associated with the FOXA1 rs12894364 C > T and rs2145146 C > A polymorphisms among older patients. There was significantly increased ESCC risk associated with the FOXA1 rs7144658 T > C polymorphism among male patients. This study demonstrates an association between FOXA1 polymorphisms and ESCC susceptibility. Additional larger studies are required to confirm our findings.
2009年，食管癌是中国第五大最常被诊断出的癌症，也是癌症相关死亡的第四大主要原因。食管鳞状细胞癌（ESCC）占食管癌的90%以上。除环境风险因素外，单核苷酸多态性（SNP）等遗传因素在ESCC致癌过程中起重要作用。我们开展了一项基于医院的病例对照研究，以评估叉头框蛋白A1（FOXA1）的rs12894364 C>T、rs2145146 C>A和rs7144658 T>C标签SNP在发生ESCC风险中的作用。我们招募了629例ESCC病例和686名对照。使用连接检测反应确定基因型。逻辑回归分析显示，这三个FOXA1 SNP与ESCC风险无关。然而，在老年患者中，FOXA1的rs12894364 C>T和rs2145146 C>A多态性与ESCC风险显著降低相关。在男性患者中，FOXA1的rs7144658 T>C多态性与ESCC风险显著增加相关。本研究证明了FOXA1多态性与ESCC易感性之间的关联。需要更多更大规模的研究来证实我们的发现。
