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

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

doi:10.18632/oncotarget.6917

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

Oncotarget. 2017 Apr 11;8(15):24196-24201. doi: 10.18632/oncotarget.6917.

Authors

Ning Zhang^{1

2}, Yishuo Wu^{1

2}, Jian Gong², Kaiwen Li³, Xiaolin Lin^{2

4

5}, Haitao Chen⁵, Yang Yu^{1

2}, Yuancheng Gou^{1

2}, Jiangang Hou^{1

2}, Deke Jiang⁴, Rong Na^{1

2

6

7}, Xiang Wang^{1

2}, Qiang Ding^{1

2}, Jianfeng Xu^{2

3

4

7}

Affiliations

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.

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.

Keywords: Chinese; SNPs; genome-wide association; renal cell carcinoma.

MeSH terms

Adaptor Proteins, Signal Transducing / genetics*
Adult
Aged
Alleles
Carcinoma, Renal Cell / epidemiology
Carcinoma, Renal Cell / genetics*
Carcinoma, Renal Cell / pathology
Case-Control Studies
Cell Adhesion Molecules
China / epidemiology
Female
Genetic Association Studies
Genetic Predisposition to Disease
Genetic Variation*
Genotype
Germ-Line Mutation*
Humans
Inositol 1,4,5-Trisphosphate Receptors / genetics*
Kidney Neoplasms / epidemiology
Kidney Neoplasms / genetics*
Kidney Neoplasms / pathology
Male
Middle Aged
Neoplasm Grading
Neoplasm Proteins / genetics*
Neoplasm Staging
Odds Ratio
Polymorphism, Single Nucleotide
White People / genetics

Substances

Adaptor Proteins, Signal Transducing
Cell Adhesion Molecules
ITPR2 protein, human
Inositol 1,4,5-Trisphosphate Receptors
Neoplasm Proteins
PDZD2 protein, human