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摘要
Background: This study aimed to determine whether rs11894252 and rs6758592 of EPAS1 gene are associated with susceptibility to renal clear cell carcinoma (RCCC) and analyze whether rs11894252 and rs6758592 can be useful prognostic markers in RCCC patients in the Chinese Han population. Methods: 163 patients diagnosed as RCCC and 192 healthy controls were enrolled. Based on the EPAS-1 gene loci found in GWAS studies, rs11894252 and rs6758592 were selected. The associations between genotypes and survival were analyzed in 163 RCCC patients. Results: Significant differences between cases and controls were observed in smoking (P=3.00x10(-10)) and hypertension (P=0.0001). When stratified by gender, the decreased risk was observed in males carrying variant allele of rs11894252 compared to those with the wild-type genotype (OR, 0.29; 95% CI, 0.13-0.64). A significantly decreased risk was also shown for people younger than 55 years with at least one variant allele of rs11894252 (OR, 0.40; 95% CI, 0.19-0.82). However, histological grade (P=2.83x10(-11)) and clinical stage (P=9.45x10(-14)) were significantly associated with survival. Patients carrying variant allele had a significantly decreased risk of dying compared to those with the wild-type genotype (HR=0.06; 95% CI: 0.01-0.58). This result was also significant in a dose-dependent manner (HR=0.18; 95% CI: 0.03-1.00). Conclusion: Rs11894252 combined with age and gender can be used to predict the risk of the RCCC. Rs11894252 may be used as a potential RCCC prognosis marker in Chinese Han population, which should still be studied by further functional research and verified by studies with larger sample size.
- 出版日期2016
- 单位上海交通大学; 上海市闵行区中心医院
