Santonocito Concetta, Scapaticci Margherita, Nedovic Bojan, Annicchiarico Eleonora B, Guarino Donatella, Leoncini Emanuele, Boccia Stefania, Gasbarrini Antonio, Capoluongo Ettore
Laboratory of Clinical Molecular Biology, Department of Biochemistry & Clinical Biochemistry, Catholic University of the Sacred Heart, Rome - Italy.
Department of Internal Medicine, A. Gemelli Teaching Hospital, Catholic University of the Sacred Heart, Rome - Italy.
Int J Biol Markers. 2017 May 4;32(2):e190-e194. doi: 10.5301/jbm.5000241.
The human X-ray repair cross-complementing protein 1 (XRCC1) gene encodes for one of the major repair factors involved in base excision repair (BER), which is reported to be associated with the risk of several cancers. A few studies have explored the association between risk of hepatocellular carcinoma (HCC) and single-nucleotide polymorphisms (SNPs) in different DNA repair genes, with contradictory results. The purpose of this study was to evaluate the association between XRCC1 Arg399Gln polymorphism and susceptibility to HCC.
A total of 89 HCC patients and 99 randomly selected healthy controls were enrolled. Genotyping of XRCC1 rs25487 was performed by high-resolution melting analysis and Sanger sequencing.
On univariate analysis, a statistically significant association was found between risk of HCC and XRCC1 399Arg/Gln genotype (odd ratio [OR] = 1.88; 95% CI, 1.04-3.43), which was confirmed after adjusting by sex (OR = 1.94; 95% CI, 1.04-3.63). Although not significant, Kaplan-Meier analysis showed a decreased median survival in Arg/Gln genotype carriers in comparison with Arg/Arg carriers.
To our knowledge, this is the first study reporting an association between BER SNP and HCC risk in a population of central-southern Italy.
人类X射线修复交叉互补蛋白1（XRCC1）基因编码参与碱基切除修复（BER）的主要修复因子之一，据报道该因子与多种癌症的风险相关。一些研究探讨了不同DNA修复基因中的单核苷酸多态性（SNP）与肝细胞癌（HCC）风险之间的关联，但结果相互矛盾。本研究的目的是评估XRCC1 Arg399Gln多态性与HCC易感性之间的关联。
共纳入89例HCC患者和99例随机选择的健康对照。通过高分辨率熔解分析和桑格测序对XRCC1 rs25487进行基因分型。
单因素分析发现，HCC风险与XRCC1 399Arg/Gln基因型之间存在统计学显著关联（比值比[OR]=1.88；95%置信区间，1.04-3.43），经性别调整后得到证实（OR=1.94；95%置信区间，1.04-3.63）。虽然不显著，但Kaplan-Meier分析显示，与Arg/Arg携带者相比，Arg/Gln基因型携带者的中位生存期缩短。
据我们所知，这是第一项报道意大利中南部人群中BER SNP与HCC风险之间存在关联的研究。
