Genetic scores based on risk-associated single nucleotide polymorphisms (SNPs) can reveal inherited risk of renal cell carcinoma
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Yishuo Wu1,2,*, Ning Zhang1,2,*, Kaiwen Li3,*, Haitao Chen4,5, Xiaolin Lin2,4,5, Yang Yu1,2, Yuancheng Gou1,2, Jiangang Hou1,2, Deke Jiang4, Rong Na1,2,6,7, Xiang Wang1,2, Qiang Ding1,2, Jianfeng Xu2,4,7
1Department of Urology, Huashan Hospital, Fudan University, Shanghai, PR China
2Fudan Institute of Urology, Huashan Hospital, Fudan University, Shanghai, PR China
3Department of Urology, Sun Yat-sen Memorial Hospital, Sun Yet-sen University, Guangdong, PR China
4State Key Laboratory of Genetic Engineering, School of Life Sciences, Fudan University, Shanghai, PR China
5Center for Genetic Epidemiology, School of Life Sciences, Fudan University, Shanghai, PR China
6Health Communication Institute, School of Public Health, Fudan University, Shanghai, PR China
7Program for Personalized Cancer Care, NorthShore University HealthSystem, Chicago, IL, USA
*These authors have contributed equally to this work
Rong Na, e-mail: firstname.lastname@example.org
Xiang Wang, e-mail: email@example.com
Qiang Ding, e-mail: firstname.lastname@example.org
Keywords: renal cell carcinoma, SNPs, genetic score, Chinese
Received: November 18, 2015 Accepted: February 14, 2016 Published: February 23, 2016
The objective of this study was to evaluate whether renal cell carcinoma (RCC) risk-associated single nucleotide polymorphisms (SNPs) could reflect the individual inherited risks of RCC. A total of 346 RCC patients and 1,130 controls were recruited in this case-control study. Genetic scores were calculated for each individual based on the odds ratios and frequencies of risk-associated SNPs. Four SNPs were significantly associated with RCC in Chinese population. Two genetic score models were established, genetic score 1 (rs10054504, rs7023329 and rs718314) and genetic score 2 (rs10054504, rs7023329 and rs1049380). For genetic score 1, the individual likelihood of RCC with low (<0.8), medium (0.8-1.2) and high (≥1.2) genetic score 1 was 15.61%, 22.25% and 33.92% respectively (P-trend=6.88×10-7). For genetic score 2, individual with low (<0.8), medium (0.8-1.2) and high (≥1.2) genetic score 2 would have likelihood of RCC as 14.39%, 24.54% and 36.48%, respectively (P-trend=1.27×10-10). The area under the receiver operating curve (AUC) of genetic score 1 was 0.626, and AUC of genetic score 2 was 0.658. We concluded that genetic score can reveal personal risk and inherited risk of RCC, especially when family history is not available.
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