Department of Urology, The Second Affiliated Hospital of Xi'an Jiaotong University, Xi'an, Shaanxi 710004, China.
Department of anesthesiology, Tangdu Hospital of Air Force Military Medical University, Xi'an, Shaanxi 710038, China.
Curr Mol Med. 2019;19(1):40-47. doi: 10.2174/1566524019666190227202003.
Kidney cancer is one of the most common cancers worldwide. Recent studies have suggested that single nucleotide polymorphisms (SNPs) in autophagy-related gene are associated with the risk of kidney cancer.
This study was undertaken to investigate the association of autophagyrelated gene 7 (ATG7) polymorphisms with the risk of clear cell renal cell carcinoma (ccRCC) in the Chinese Han population.
Blood samples were collected from 293 ccRCC patients and 297 healthy controls. Three ATG7 polymorphisms (rs1375206, rs2606736 and rs6442260) were genotyped by Agena MassARRAY. The association was estimated by genetic models and stratification analyses.
A significant association was observed between allele A of rs6442260 and ccRCC risk (OR = 0.76, 95% CI: 0.58-0.99, p = 0.039). Genetic model analysis revealed that rs2606736 (OR = 0.57, 95% CI: 0.34-0.95, p = 0.031) and rs6442260 (OR = 0.44, 95% CI: 0.22-0.90, p = 0.021) were associated with decreased risk of ccRCC under recessive model. Age stratification analysis showed that rs2606736 (OR = 0.67, 95% CI: 0.46-0.98, p = 0.036) and rs6442260 (OR = 0.26, 95% CI: 0.07-0.89, p = 0.014) were significantly decreased risk of ccRCC under the log-additive model in age > 55 years old and ≤ 55 years old, respectively.
This study indicated that ATG7 polymorphisms (rs2606736 and rs6442260) have a protective role for ccRCC risk. Further large sample size and functional assays are needed to confirm our findings and reveal the role of ATG7 polymorphisms in ccRCC carcinogenesis.
肾癌是全球最常见的癌症之一。最近的研究表明，自噬相关基因中的单核苷酸多态性（SNPs）与肾癌的风险相关。
本研究旨在探讨自噬相关基因 7（ATG7）多态性与中国汉族人群透明细胞肾细胞癌（ccRCC）风险的关系。
收集 293 例 ccRCC 患者和 297 例健康对照者的血样。采用 Agena MassARRAY 法检测 ATG7 基因的 3 个多态性位点（rs1375206、rs2606736 和 rs6442260）。采用遗传模型和分层分析估计相关性。
等位基因 A 的 rs6442260 与 ccRCC 风险显著相关（OR=0.76，95%CI：0.58-0.99，p=0.039）。遗传模型分析显示，rs2606736（OR=0.57，95%CI：0.34-0.95，p=0.031）和 rs6442260（OR=0.44，95%CI：0.22-0.90，p=0.021）在隐性模型下与 ccRCC 风险降低相关。年龄分层分析显示，rs2606736（OR=0.67，95%CI：0.46-0.98，p=0.036）和 rs6442260（OR=0.26，95%CI：0.07-0.89，p=0.014）在年龄>55 岁和≤55 岁的个体中，分别在对数加性模型下与 ccRCC 风险降低显著相关。
本研究表明，ATG7 多态性（rs2606736 和 rs6442260）对 ccRCC 风险具有保护作用。需要进一步进行大样本量和功能检测来验证我们的发现，并揭示 ATG7 多态性在 ccRCC 发生中的作用。
