Yin Jun, Sang Yonghua, Zheng Liang, Wang Liming, Yuan Luorongxin, Liu Chao, Wang Xu, Shi Yijun, Shao Aizhong, Ding Guowen, Chen Suocheng, Tang Weifeng, Gu Haiyong
Department of Cardiothoracic Surgery, Affiliated People's Hospital of Jiangsu University, 8 Dianli Rd, Zhenjiang, 212000, China.
Med Oncol. 2014 Nov;31(11):272. doi: 10.1007/s12032-014-0272-5. Epub 2014 Oct 10.
Esophageal cancer is the sixth leading cause of cancer-associated death worldwide. In addition to environmental risk factors, genetic factors might play an important role in esophageal cancer carcinogenesis. We conducted a hospital-based case-control study to evaluate the association between functional single nucleotide polymorphisms (SNPs) in uracil-DNA glycosylase (UNG) and the development of esophageal cancer. A total of 380 esophageal squamous cell carcinoma (ESCC) cases and 380 controls were recruited for this study. The UNG rs3219218 A/G and UNG rs246079 G/A genotypes were determined using matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS). When the UNG rs246079 GG homozygote genotype was used as the reference group, the GA genotype was associated with a significantly decreased risk for ESCC (GA vs. GG: adjusted OR 0.67, 95 % CI 0.49-0.91, P = 0.011); the AA genotype was not associated with the risk of ESCC. In stratification analyses, a significantly decreased risk of ESCC associated with the UNG rs246079 G/A polymorphism was evident among women, younger patients and never-smokers and never-drinkers. The UNG rs3219218 A/G polymorphism was not associated with the risk for ESCC. These findings indicated that UNG rs246079 G/A might contribute to a decreased risk of ESCC in specific populations. Because of the limited sample size, further studies including a larger and more diverse population, as well as tissue-specific biological characterization, are required to confirm the current findings.
食管癌是全球第六大癌症相关死亡原因。除环境风险因素外，遗传因素可能在食管癌致癌过程中起重要作用。我们进行了一项基于医院的病例对照研究，以评估尿嘧啶-DNA糖基化酶（UNG）功能性单核苷酸多态性（SNP）与食管癌发生之间的关联。本研究共纳入380例食管鳞状细胞癌（ESCC）病例和380例对照。使用基质辅助激光解吸/电离飞行时间质谱（MALDI-TOF MS）确定UNG rs3219218 A/G和UNG rs246079 G/A基因型。当将UNG rs246079 GG纯合子基因型作为参考组时，GA基因型与ESCC风险显著降低相关（GA vs. GG：调整后的OR为0.67，95%CI为0.49-0.91，P = 0.011）；AA基因型与ESCC风险无关。在分层分析中，UNG rs246079 G/A多态性与ESCC风险降低在女性、年轻患者以及从不吸烟者和从不饮酒者中明显相关。UNG rs3219218 A/G多态性与ESCC风险无关。这些发现表明UNG rs246079 G/A可能导致特定人群中ESCC风险降低。由于样本量有限，需要进一步开展包括更大且更多样化人群以及组织特异性生物学特征分析的研究来证实当前发现。
