Research Papers:
Germline genetic variations in PDZD2 and ITPR2 genes are associated with clear cell renal cell carcinoma in Chinese population
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Abstract
Ning Zhang1,2,*, Yishuo Wu1,2,*, Jian Gong2*, Kaiwen Li3, Xiaolin Lin2,4,5, Haitao Chen5, Yang Yu1,2, Yuancheng Gou1,2, Jiangang Hou1,2, Deke Jiang4, Rong Na1,2,6,7, Xiang Wang1,2, Qiang Ding1,2 and Jianfeng Xu2,3,4,7
1 Department of Urology, Huashan Hospital, Fudan University, Shanghai, PR China
2 Fudan Institute of Urology, Huashan Hospital, Fudan University, Shanghai, PR China
3 Department of Urology, Sun Yat-sen Memorial Hospital, Sun Yet-sen University, Guandong, PR China
4 State Key Laboratory of Genetic Engineering, School of Life Sciences, Fudan University, Shanghai, PR China
5 Center for Genetic Epidemiology, School of Life Sciences, Fudan University, Shanghai, PR China
6 Health Communication Institute, School of Public Health, Fudan University, Shanghai, PR China
7 Program for Personalized Cancer Care, NorthShore University HealthSystem, Evanston, IL, USA
* These authors have contributed equally to this work
Correspondence to:
Rong Na, email:
Xiang Wang, email:
Keywords: renal cell carcinoma, SNPs, genome-wide association, Chinese
Received: June 03, 2015 Accepted: December 31, 2015 Published: January 14, 2016
Abstract
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.
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PII: 6917