J Cancer 2018; 9(5):923-928. doi:10.7150/jca.22802

Research Paper

Genome-wide Association Study (GWAS) of Germline Copy Number Variations (CNVs) Reveal Genetic Risks of Prostate Cancer in Chinese population

Yishuo Wu1,2,3*, Haitao Chen4*, Guangliang Jiang1,2*, Zengnan Mo5, Dingwei Ye6, Meilin Wang7, Jun Qi8, Xiaoling Lin2, S. Lilly Zheng3, Ning Zhang1,2, Rong Na2,9✉, Qiang Ding1,2✉, Jianfeng Xu2,3✉, Yinghao Sun10

1. Department of Urology, Huashan Hospital, Fudan University, Shanghai, PR China
2. Fudan Institute of Urology, Huashan Hospital, Fudan University, Shanghai, PR China
3. Program for Personalized Cancer Care, NorthShore University HealthSystem, Evanston, Illinois, USA
4. State Key Laboratory of Organ Failure Research, Guangdong Key Laboratory of Viral Hepatitis Research, Department of Infectious Diseases and Hepatology Unit, Nanfang Hospital, Southern Medical University, GuangZhou, China.
5. Department of Urology and Nephrology, The First Affiliated Hospital of Guangxi Medical University, Nanning, China.
6. Department of Urology, Fudan University Shanghai Cancer Center, Shanghai Medical College, Fudan University, Shanghai, China.
7. Department of Molecular and Genetic Toxicology, The Key Laboratory of Modern Toxicology of the Ministry of Education, School of Public Health, Nanjing Medical University, Nanjing, China.
8. Department of Urology, Xinhua Hospital, School of Medicine, Shanghai Jiaotong University, Shanghai, China.
9. Department of Urology, Ruijin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.
10. Department of Urology, Shanghai Changhai Hospital, Second Military Medical University, Shanghai, China.
*These authors contributed equally to this study.


Introduction: The associations between Prostate cancer (PCa) and germline copy number variations (CNVs) in genome-wide level based on Chinese population are unknown. The objective of this study was to identify possible PCa-risk associated CNV regions in Chinese population.

Materials and Methods: We performed a genome-wide association study for CNV in 1,417 PCa cases and 1,008 controls in Chinese population.

Results: 7 risk-associated CNVs were identified for PCa after association analyses (P <7.2×10-6). Another 34 CNVs were found to be potentially risk-associated CNVs (P<0.05). Among the total 41 CNVs, 27 CNVs were risk variations and the other 14 were found to be protective of PCa. 25 of the CNVs (19 duplications and 6 deletions) were located in gene regions while 16 CNVs (9 duplications and 7 deletions) were located in intergenic regions. We identified a higher burden of gaining PCa-risk CNVs and a lower frequency of protective CNVs in cases than controls. Bioinformatics analyses suggested that genes related to PCa risk-associated CNVs were significantly enriched in some biological processes, cellular components and molecular functions.

Conclusion: These results provided additional information of genetic risks for PCa. Several CNV regions involved actionable genes that might be potential gene for target therapy. Additional validation and functional studies are warranted for these results.

Keywords: copy number variation, genome-wide association study, prostate cancer, China.

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How to cite this article:
Wu Y, Chen H, Jiang G, Mo Z, Ye D, Wang M, Qi J, Lin X, Zheng SL, Zhang N, Na R, Ding Q, Xu J, Sun Y. Genome-wide Association Study (GWAS) of Germline Copy Number Variations (CNVs) Reveal Genetic Risks of Prostate Cancer in Chinese population. J Cancer 2018; 9(5):923-928. doi:10.7150/jca.22802. Available from http://www.jcancer.org/v09p0923.htm