Germline genetic variations in PDZD2 and ITPR2 genes are associated with clear cell renal cell carcinoma in Chinese population

Genome-wide association studies (GWAS) of renal cell carcinoma (RCC) have identified single nucleotide polymorphisms (SNPs) associated with RCC in European and African American population. In this study, we evaluated whether these SNPs are associated with clear cell RCC (ccRCC) in Chinese population.

All reported RCC risk-associated SNPs from GWAS were evaluated in 346 ccRCC cases and 1,130 controls. Rs10054504 (at PDZD2, Odds ratio, OR = 0.71, 95%CI:0.59-0.86, P = 0.0006), rs718314 (at ITPR2, OR = 0.56, 95%CI:0.45-0.69, P = 5.26×10-8) and rs1049380 (at ITPR2, by dominant model, OR = 1.58, 95%CI:1.18-2.13, P = 0.0025) were significantly associated with ccRCC risk in Chinese population. To conclude, genetic variations in PDZD2 and ITPR2 are ccRCC-risk associated in Chinese population.

Oncotarget. 2016 Jan 14 [Epub ahead of print]

Ning Zhang, Yishuo Wu, Jian Gong, Kaiwen Li, Xiaolin Lin, Haitao Chen, Yang Yu, Yuancheng Gou, Jiangang Hou, Deke Jiang, Rong Na, Xiang Wang, Qiang Ding, Jianfeng Xu

Department of Urology, Huashan Hospital, Fudan University, Shanghai, PR China., Department of Urology, Huashan Hospital, Fudan University, Shanghai, PR China., Fudan Institute of Urology, Huashan Hospital, Fudan University, Shanghai, PR China., Department of Urology, Sun Yat-sen Memorial Hospital, Sun Yet-sen University, Guandong, PR China., Fudan Institute of Urology, Huashan Hospital, Fudan University, Shanghai, PR China., Center for Genetic Epidemiology, School of Life Sciences, Fudan University, Shanghai, PR China., Department of Urology, Huashan Hospital, Fudan University, Shanghai, PR China., Department of Urology, Huashan Hospital, Fudan University, Shanghai, PR China., Department of Urology, Huashan Hospital, Fudan University, Shanghai, PR China., State Key Laboratory of Genetic Engineering, School of Life Sciences, Fudan University, Shanghai, PR China., Department of Urology, Huashan Hospital, Fudan University, Shanghai, PR China., Department of Urology, Huashan Hospital, Fudan University, Shanghai, PR China., Department of Urology, Huashan Hospital, Fudan University, Shanghai, PR China., Fudan Institute of Urology, Huashan Hospital, Fudan University, Shanghai, PR China.