Department of Cardiothoracic Surgery, The First People's Hospital of Changzhou and The Third Affiliated Hospital of Suzhou University, Changzhou 213003, China.
Clin Biochem. 2013 Oct;46(15):1469-73. doi: 10.1016/j.clinbiochem.2013.05.050. Epub 2013 May 29.
Esophageal cancer is the sixth leading cause of cancer-associated deaths worldwide and represents a particularly aggressive type of cancer. Genetic polymorphisms may partly explain individual differences in esophageal cancer susceptibility.
We conducted a hospital-based case-control study to evaluate the genetic effects of functional single nucleotide polymorphisms (SNPs) in the interleukin 1 (IL1A and IL1B), IL1f7, IL3 and IL7Ra genes on the development of esophageal cancer. A total of 380 esophageal squamous cell carcinoma (ESCC) cases and 380 controls were recruited for this study. The genotypes were determined using a custom-by-design 48-Plex SNPscan™ Kit.
When the IL1B rs16944 GG homozygote genotype was used as the reference group, the GA genotype was associated with a significantly decreased risk of ESCC (GA vs. GG: adjusted OR=0.69, 95% CI=0.49-0.99, p=0.041). However, there were no significant associations between the other five SNPs and ESCC risk. Stratified analyses indicated no significantly different risks of ESCC associated with the IL1B rs16944 G>A polymorphism according to sex, age, smoking status or alcohol consumption. IL3 rs2073506 G>A polymorphism was associated with an increased risk for ESCC higher tumor, nodal, and metastatic (TNM) stages.
These findings indicated that the functional IL1B rs16944 G>A polymorphism might contribute to ESCC susceptibility. IL3 rs2073506 G>A polymorphism was associated with an increased risk for ESCC higher TNM stages. However, the results were based on a limited sample size and larger well-designed studies are warranted to confirm these initial findings.
食管癌是全球第六大癌症相关死亡原因，是一种特别具有侵袭性的癌症。遗传多态性可能部分解释了食管癌易感性的个体差异。
我们进行了一项基于医院的病例对照研究，以评估白细胞介素 1（IL1A 和 IL1B）、IL1f7、IL3 和 IL7Ra 基因中的功能性单核苷酸多态性（SNP）对食管癌发展的遗传影响。共有 380 例食管鳞状细胞癌（ESCC）病例和 380 例对照参加了这项研究。使用定制的 48-Plex SNPscan™Kit 确定基因型。
当 IL1B rs16944 GG 纯合子基因型作为参考组时，GA 基因型与 ESCC 的风险显著降低相关（GA 与 GG：调整后的 OR=0.69，95%CI=0.49-0.99，p=0.041）。然而，其他五个 SNP 与 ESCC 风险之间没有显著关联。分层分析表明，IL1B rs16944 G>A 多态性与性别、年龄、吸烟状况或饮酒无关，与 ESCC 的风险无显著差异。IL3 rs2073506 G>A 多态性与 ESCC 较高的肿瘤、淋巴结和转移（TNM）分期相关，风险增加。
这些发现表明，功能性 IL1B rs16944 G>A 多态性可能导致 ESCC 易感性。IL3 rs2073506 G>A 多态性与 ESCC 较高的 TNM 分期相关的风险增加有关。然而，这些结果基于有限的样本量，需要更大规模的精心设计的研究来证实这些初步发现。
