title: Germline genetic variations in PDZD2 and ITPR2 genes are associated with clear cell renal cell carcinoma in Chinese population.
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.
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, 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: Fudan Institute of Urology, Huashan Hospital, Fudan University, Shanghai, PR China.
authors.forename: Jian
authors.initials: J
authors.lastname: Gong
authors.affiliation: Department of Urology, Sun Yat-sen Memorial Hospital, Sun Yet-sen University, Guandong, PR China.
authors.forename: Kaiwen
authors.initials: K
authors.lastname: Li
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: Center for Genetic Epidemiology, School of Life Sciences, Fudan University, Shanghai, PR China.
authors.forename: Haitao
authors.initials: H
authors.lastname: Chen
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, Evanston, 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.|Department of Urology, Sun Yat-sen Memorial Hospital, Sun Yet-sen University, Guandong, 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, Evanston, IL, USA.
authors.forename: Jianfeng
authors.initials: J
authors.lastname: Xu
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D000328:Adult; D000368:Aged; D000483:Alleles; D002292:Carcinoma, Renal Cell / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D016022:Case-Control Studies; D015815:Cell Adhesion Molecules; D002681:China / Q000453:epidemiology; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D005838:Genotype; D018095:Germ-Line Mutation; D006801:Humans; D053496:Inositol 1,4,5-Trisphosphate Receptors / Q000235:genetics*; D007680:Kidney Neoplasms / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D060787:Neoplasm Grading; D009363:Neoplasm Proteins / Q000235:genetics*; D009367:Neoplasm Staging; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide; D044465:White People / Q000235:genetics
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D015815:Cell Adhesion Molecules; C506927:ITPR2 protein, human; D053496:Inositol 1,4,5-Trisphosphate Receptors; D009363:Neoplasm Proteins; C423943:PDZD2 protein, human
keywords: Chinese; SNPs; genome-wide association; renal cell carcinoma