title: Genetic scores based on risk-associated single nucleotide polymorphisms (SNPs) can reveal inherited risk of renal cell carcinoma.
abstract: 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.
authors.affiliation: Department of Urology, Huashan Hospital, Fudan University, Shanghai, PR China.|Fudan Institute of Urology, Huashan Hospital, Fudan University, Shanghai, PR China.
authors.forename: Yishuo
authors.initials: Y
authors.lastname: Wu
authors.affiliation: Department of Urology, Huashan Hospital, Fudan University, Shanghai, PR China.|Fudan Institute of Urology, Huashan Hospital, Fudan University, Shanghai, PR China.
authors.forename: Ning
authors.initials: N
authors.lastname: Zhang
authors.affiliation: Department of Urology, Sun Yat-sen Memorial Hospital, Sun Yet-sen University, Guangdong, PR China.
authors.forename: Kaiwen
authors.initials: K
authors.lastname: Li
authors.affiliation: State Key Laboratory of Genetic Engineering, School of Life Sciences, Fudan University, Shanghai, PR China.|Center for Genetic Epidemiology, School of Life Sciences, Fudan University, Shanghai, PR China.
authors.forename: Haitao
authors.initials: H
authors.lastname: Chen
authors.affiliation: Fudan Institute of Urology, Huashan Hospital, Fudan University, Shanghai, PR China.|State Key Laboratory of Genetic Engineering, School of Life Sciences, Fudan University, Shanghai, PR China.|Center for Genetic Epidemiology, School of Life Sciences, Fudan University, Shanghai, PR China.
authors.forename: Xiaolin
authors.initials: X
authors.lastname: Lin
authors.affiliation: Department of Urology, Huashan Hospital, Fudan University, Shanghai, PR China.|Fudan Institute of Urology, Huashan Hospital, Fudan University, Shanghai, PR China.
authors.forename: Yang
authors.initials: Y
authors.lastname: Yu
authors.affiliation: Department of Urology, Huashan Hospital, Fudan University, Shanghai, PR China.|Fudan Institute of Urology, Huashan Hospital, Fudan University, Shanghai, PR China.
authors.forename: Yuancheng
authors.initials: Y
authors.lastname: Gou
authors.affiliation: Department of Urology, Huashan Hospital, Fudan University, Shanghai, PR China.|Fudan Institute of Urology, Huashan Hospital, Fudan University, Shanghai, PR China.
authors.forename: Jiangang
authors.initials: J
authors.lastname: Hou
authors.affiliation: State Key Laboratory of Genetic Engineering, School of Life Sciences, Fudan University, Shanghai, PR China.
authors.forename: Deke
authors.initials: D
authors.lastname: Jiang
authors.affiliation: Department of Urology, Huashan Hospital, Fudan University, Shanghai, PR China.|Fudan Institute of Urology, Huashan Hospital, Fudan University, Shanghai, PR China.|Health Communication Institute, School of Public Health, Fudan University, Shanghai, PR China.|Program for Personalized Cancer Care, NorthShore University HealthSystem, Chicago, IL, USA.
authors.forename: Rong
authors.initials: R
authors.lastname: Na
authors.affiliation: Department of Urology, Huashan Hospital, Fudan University, Shanghai, PR China.|Fudan Institute of Urology, Huashan Hospital, Fudan University, Shanghai, PR China.
authors.forename: Xiang
authors.initials: X
authors.lastname: Wang
authors.affiliation: Department of Urology, Huashan Hospital, Fudan University, Shanghai, PR China.|Fudan Institute of Urology, Huashan Hospital, Fudan University, Shanghai, PR China.
authors.forename: Qiang
authors.initials: Q
authors.lastname: Ding
authors.affiliation: Fudan Institute of Urology, Huashan Hospital, Fudan University, Shanghai, PR China.|State Key Laboratory of Genetic Engineering, School of Life Sciences, Fudan University, Shanghai, PR China.|Program for Personalized Cancer Care, NorthShore University HealthSystem, Chicago, IL, USA.
authors.forename: Jianfeng
authors.initials: J
authors.lastname: Xu
mesh_terms: D002292:Carcinoma, Renal Cell / Q000235:genetics*; D016022:Case-Control Studies; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007680:Kidney Neoplasms / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors
keywords: Chinese; SNPs; genetic score; renal cell carcinoma