title: Combined analysis with copy number variation identifies risk loci in lung cancer.
abstract: BACKGROUND
  Lung cancer is the most important cause of cancer mortality worldwide, but the underlying mechanisms of this disease are not fully understood. Copy number variations (CNVs) are promising genetic variations to study because of their potential effects on cancer.
  
  
  RESULTS
  Here we conducted a pilot study in which we systematically analyzed the association of CNVs in two lung cancer datasets: the Environment And Genetics in Lung cancer Etiology (EAGLE) and the Prostate, Lung, Colorectal and Ovarian (PLCO) Cancer Screening Trial datasets. We used a preestablished association method to test the datasets separately and conducted a combined analysis to test the association accordance between the two datasets. Finally, we identified 167 risk SNP loci and 22 CNVs associated with lung cancer and linked them with recombination hotspots. Functional annotation and biological relevance analyses implied that some of our predicted risk loci were supported by other studies and might be potential candidate loci for lung cancer studies.
  
  
  CONCLUSIONS
  Our results further emphasized the importance of copy number variations in cancer and might be a valuable complement to current genome-wide association studies on cancer.
authors.affiliation: Institute of Health Sciences, Shanghai Jiao Tong University School of Medicine (SJTUSM) and Shanghai Institutes for Biological Sciences (SIBS), Chinese Academy of Sciences (CAS), Shanghai 200025, China.
authors.forename: Xinlei
authors.initials: X
authors.lastname: Li
authors.affiliation: Institute of Health Sciences, Shanghai Jiao Tong University School of Medicine (SJTUSM) and Shanghai Institutes for Biological Sciences (SIBS), Chinese Academy of Sciences (CAS), Shanghai 200025, China.
authors.forename: Xianfeng
authors.initials: X
authors.lastname: Chen
authors.affiliation: Institute of Health Sciences, Shanghai Jiao Tong University School of Medicine (SJTUSM) and Shanghai Institutes for Biological Sciences (SIBS), Chinese Academy of Sciences (CAS), Shanghai 200025, China.
authors.forename: Guohong
authors.initials: G
authors.lastname: Hu
authors.affiliation: Institute of Health Sciences, Shanghai Jiao Tong University School of Medicine (SJTUSM) and Shanghai Institutes for Biological Sciences (SIBS), Chinese Academy of Sciences (CAS), Shanghai 200025, China.
authors.forename: Yang
authors.initials: Y
authors.lastname: Liu
authors.affiliation: Institute of Health Sciences, Shanghai Jiao Tong University School of Medicine (SJTUSM) and Shanghai Institutes for Biological Sciences (SIBS), Chinese Academy of Sciences (CAS), Shanghai 200025, China.
authors.forename: Zhenguo
authors.identifier: 0000-0002-9444-9604
authors.initials: Z
authors.lastname: Zhang
authors.affiliation: Institute of Health Sciences, Shanghai Jiao Tong University School of Medicine (SJTUSM) and Shanghai Institutes for Biological Sciences (SIBS), Chinese Academy of Sciences (CAS), Shanghai 200025, China.
authors.forename: Ping
authors.initials: P
authors.lastname: Wang
authors.affiliation: Institute of Health Sciences, Shanghai Jiao Tong University School of Medicine (SJTUSM) and Shanghai Institutes for Biological Sciences (SIBS), Chinese Academy of Sciences (CAS), Shanghai 200025, China.
authors.forename: You
authors.initials: Y
authors.lastname: Zhou
authors.affiliation: Institute of Health Sciences, Shanghai Jiao Tong University School of Medicine (SJTUSM) and Shanghai Institutes for Biological Sciences (SIBS), Chinese Academy of Sciences (CAS), Shanghai 200025, China.
authors.forename: Xianfu
authors.identifier: 0000-0002-8094-2676
authors.initials: X
authors.lastname: Yi
authors.affiliation: Institute of Health Sciences, Shanghai Jiao Tong University School of Medicine (SJTUSM) and Shanghai Institutes for Biological Sciences (SIBS), Chinese Academy of Sciences (CAS), Shanghai 200025, China.
authors.forename: Jie
authors.initials: J
authors.lastname: Zhang
authors.affiliation: Institute of Health Sciences, Shanghai Jiao Tong University School of Medicine (SJTUSM) and Shanghai Institutes for Biological Sciences (SIBS), Chinese Academy of Sciences (CAS), Shanghai 200025, China.
authors.forename: Yufei
authors.initials: Y
authors.lastname: Zhu
authors.affiliation: Institute of Health Sciences, Shanghai Jiao Tong University School of Medicine (SJTUSM) and Shanghai Institutes for Biological Sciences (SIBS), Chinese Academy of Sciences (CAS), Shanghai 200025, China.
authors.forename: Zejun
authors.initials: Z
authors.lastname: Wei
authors.affiliation: Institute of Health Sciences, Shanghai Jiao Tong University School of Medicine (SJTUSM) and Shanghai Institutes for Biological Sciences (SIBS), Chinese Academy of Sciences (CAS), Shanghai 200025, China.
authors.forename: Fei
authors.identifier: 0000-0002-9681-6367
authors.initials: F
authors.lastname: Yuan
authors.affiliation: Chinese National Human Genome Center at Shanghai, Shanghai 201203, China.
authors.forename: Guoping
authors.initials: G
authors.lastname: Zhao
authors.affiliation: Institute of Bioinformatics, College of Agriculture and Biotechnology, Zhejiang University, Hangzhou 310029, China.
authors.forename: Jun
authors.initials: J
authors.lastname: Zhu
authors.affiliation: Institute of Health Sciences, Shanghai Jiao Tong University School of Medicine (SJTUSM) and Shanghai Institutes for Biological Sciences (SIBS), Chinese Academy of Sciences (CAS), Shanghai 200025, China ; State Key Laboratory of Medical Genomics, Ruijin Hospital, Shanghai Jiao Tong University, 197 Ruijin Road II, Shanghai 200025, China.
authors.forename: Landian
authors.initials: L
authors.lastname: Hu
authors.affiliation: Institute of Health Sciences, Shanghai Jiao Tong University School of Medicine (SJTUSM) and Shanghai Institutes for Biological Sciences (SIBS), Chinese Academy of Sciences (CAS), Shanghai 200025, China ; State Key Laboratory of Medical Genomics, Ruijin Hospital, Shanghai Jiao Tong University, 197 Ruijin Road II, Shanghai 200025, China.
authors.forename: Xiangyin
authors.initials: X
authors.lastname: Kong
mesh_terms: D056915:DNA Copy Number Variations / Q000235:genetics*; D055106:Genome-Wide Association Study; D006801:Humans; D008175:Lung Neoplasms / Q000235:genetics* / Q000473:pathology; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D012306:Risk
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