Hebei Provincial Cancer Institute, The Fourth Hospital of Hebei Medical University, 12 Jiankang Road, Shijiazhuang, 050011, Hebei Province, China.
Department of Surgery, Shijiazhuang Ping'an Hospital, 48 Cangfeng Road, Shijiazhuang, 050051, Hebei Province, China.
Mol Biol Rep. 2021 Feb;48(2):1485-1491. doi: 10.1007/s11033-021-06169-4. Epub 2021 Feb 2.
DNA repair system plays a crucial role in maintaining genomic integrity and stability and in protecting against cancer. Poly(ADP-ribose) polymerase 1 (PARP1) functions as a key enzyme in the base excision repair (BER) pathway. Single nucleotide polymorphism (SNP) that could affect the function or expression of PARP1 gene might be associated with the risk of cancer. This study was designed to evaluate the association between PARP1 SNPs and the susceptibility to esophageal squamous cell carcinoma (ESCC) in a population from Cixian, a high incidence region from northern China. In 574 ESCC patients and 577 controls, PARP1 rs1136410 and rs8679 SNPs were genotyped by polymerase chain reaction ligase detection reaction (PCR-LDR) method. Upper gastrointestinal cancer (UGIC) family history enhanced the risk of ESCC (the sex-, age- and smoking status-adjusted OR 1.355, 95% CI 1.071-1.715). Overall, rs1136410 and rs8679 SNPs did not modify the risk of ESCC. When stratified by sex, age, smoking status and UGIC family history, the rs1136410 C/C genotype was associated with an increased risk of ESCC in smokers compared to T/T or T/C genotype (the sex-, age- and UGIC family history-adjusted OR 1.696, 95% CI 1.032-2.787). In Cixian high incidence region from northern China, smokers with rs1136410 C/C genotype might have higher susceptibility to ESCC than those with T/T or T/C genotype. These high-risk individuals receiving periodic upper gastrointestinal fiber tests might facilitate early detection and early treatment of ESCC.
DNA 修复系统在维持基因组完整性和稳定性以及预防癌症方面起着至关重要的作用。聚（ADP-核糖）聚合酶 1（PARP1）作为碱基切除修复（BER）途径中的关键酶发挥作用。可能影响 PARP1 基因功能或表达的单核苷酸多态性（SNP）可能与癌症风险相关。本研究旨在评估 PARP1 SNPs 与来自中国北方高发地区磁县的人群中食管癌易感性的关系。在 574 例食管癌患者和 577 例对照中，通过聚合酶链反应连接酶检测反应（PCR-LDR）方法对 PARP1 rs1136410 和 rs8679 单核苷酸多态性进行基因分型。上消化道癌（UGIC）家族史增加了食管癌的风险（性别、年龄和吸烟状况调整后的 OR 为 1.355，95%CI 为 1.071-1.715）。总体而言，rs1136410 和 rs8679 单核苷酸多态性并未改变食管癌的风险。按性别、年龄、吸烟状况和 UGIC 家族史分层后，与 T/T 或 T/C 基因型相比，rs1136410 C/C 基因型与吸烟者食管癌的风险增加相关（性别、年龄和 UGIC 家族史调整后的 OR 为 1.696，95%CI 为 1.032-2.787）。在中国北方高发地区磁县，与 T/T 或 T/C 基因型相比，携带 rs1136410 C/C 基因型的吸烟者可能对食管癌的易感性更高。这些高风险个体定期接受上消化道纤维检查可能有助于早期发现和早期治疗食管癌。
