Department of Cardiothoracic Surgery, Affiliated People's Hospital of Jiangsu University, Zhenjiang, 212000, China.
Mol Biol Rep. 2012 May;39(5):5977-84. doi: 10.1007/s11033-011-1410-1. Epub 2011 Dec 27.
Growing evidence suggests that the checkpoint kinase 2 (CHEK2) signaling pathway occupies a central position in the signaling networks of DNA-damage signaling. Many functional and molecular epidemiological studies have evaluated the association between genetic variants of CHEK2 and various cancers. To evaluate the relationship between CHEK2 functional genetic variants and esophageal cancer risk and the risk of lymph node metastasis among a Chinese population. We genotyped CHEK2 rs738722, rs2236141 and rs2236142 single nucleotide polymorphisms (SNPs) using the matrix assisted laser desorption/ionization time-of-flight mass spectrometry assay in a case-controlled study, including 380 esophageal cancer cases and 380 healthy controls in a Chinese population. We found that none of the three polymorphisms achieved significant difference in their distributions between esophageal cancer cases and controls. Multiple logistic regression analyses revealed that esophageal cancer risk was not associated significantly with the variant genotypes of the three CHEK2 polymorphisms as compared with their wild-type genotypes. However, we found that functional variant rs738722 and rs2236142 in CHEK2 might contribute to susceptibility to lymph node metastasis. Our data did not support a significant association between CHEK2 SNPs and the risk of esophageal cancer. Functional variant CHEK2 rs738722 and rs2236142 might contribute to lymph node metastasis susceptibility. The CT allele of SNP rs738722 and the GC allele of SNP rs2236142 might be a protective factor of the risk for lymph node metastasis of esophageal cancer.
越来越多的证据表明，检查点激酶 2（CHEK2）信号通路在 DNA 损伤信号转导的信号网络中占据中心位置。许多功能和分子流行病学研究已经评估了 CHEK2 基因变异与各种癌症之间的关联。为了评估 CHEK2 功能遗传变异与中国人群食管癌风险以及淋巴结转移风险之间的关系。我们使用基质辅助激光解吸/电离飞行时间质谱分析方法对 CHEK2 rs738722、rs2236141 和 rs2236142 单核苷酸多态性（SNP）进行了基因分型，该研究包括了 380 例中国人群中的食管癌病例和 380 例健康对照。我们发现，在食管癌病例和对照组之间，这三个多态性的分布均无显著差异。多因素逻辑回归分析显示，与野生型基因型相比，三种 CHEK2 多态性的变异基因型与食管癌风险无显著相关性。然而，我们发现 CHEK2 中的功能性变异 rs738722 和 rs2236142 可能与淋巴结转移易感性有关。我们的数据不支持 CHEK2 SNP 与食管癌风险之间存在显著关联。功能性 CHEK2 rs738722 和 rs2236142 变异可能有助于淋巴结转移易感性。SNP rs738722 的 CT 等位基因和 SNP rs2236142 的 GC 等位基因可能是食管癌淋巴结转移风险的保护因素。
