Display options
Share it on

Biomed Res Int. 2014;2014:469103. doi: 10.1155/2014/469103. Epub 2014 Jul 01.

Combined analysis with copy number variation identifies risk loci in lung cancer.

BioMed research international

Xinlei Li, Xianfeng Chen, Guohong Hu, Yang Liu, Zhenguo Zhang, Ping Wang, You Zhou, Xianfu Yi, Jie Zhang, Yufei Zhu, Zejun Wei, Fei Yuan, Guoping Zhao, Jun Zhu, Landian Hu, Xiangyin Kong

Affiliations

  1. 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.
  2. Chinese National Human Genome Center at Shanghai, Shanghai 201203, China.
  3. Institute of Bioinformatics, College of Agriculture and Biotechnology, Zhejiang University, Hangzhou 310029, China.
  4. 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.

PMID: 25093167 PMCID: PMC4100386 DOI: 10.1155/2014/469103

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.

METHODOLOGY/PRINCIPAL FINDINGS: 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/SIGNIFICANCE: 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.

References

  1. Nature. 2008 Apr 3;452(7187):633-7 - PubMed
  2. Am J Hum Genet. 2009 Nov;85(5):679-91 - PubMed
  3. Am J Epidemiol. 1999 Apr 15;149(8):689-92 - PubMed
  4. Nat Genet. 2008 May;40(5):616-22 - PubMed
  5. Trends Genet. 2002 Feb;18(2):74-82 - PubMed
  6. Mol Biol (Mosk). 2008 Nov-Dec;42(6):965-76 - PubMed
  7. J Pathol. 1996 Sep;180(1):33-7 - PubMed
  8. Hum Genomics. 2006 Mar;2(5):310-7 - PubMed
  9. CA Cancer J Clin. 2010 Sep-Oct;60(5):277-300 - PubMed
  10. PLoS One. 2010 Aug 20;5(8):e12185 - PubMed
  11. PLoS Genet. 2009 May;5(5):e1000477 - PubMed
  12. Curr Opin Genet Dev. 2010 Jun;20(3):282-9 - PubMed
  13. Am J Med Genet A. 2010 Apr;152A(4):916-23 - PubMed
  14. Nat Protoc. 2009;4(1):44-57 - PubMed
  15. BMC Public Health. 2008 Jun 06;8:203 - PubMed
  16. Cancer Genet Cytogenet. 2006 Jun;167(2):150-4 - PubMed
  17. Carcinogenesis. 2010 Jun;31(6):1027-36 - PubMed
  18. Cancer Genet Cytogenet. 2000 Feb;117(1):66-70 - PubMed
  19. Mutat Res. 2005 Dec 30;592(1-2):147-54 - PubMed
  20. Genes Chromosomes Cancer. 2001 Jul;31(3):282-7 - PubMed
  21. Nature. 2009 Jun 18;459(7249):987-91 - PubMed
  22. Science. 2005 Mar 4;307(5714):1434-40 - PubMed
  23. Hum Mol Genet. 2008 Oct 15;17(R2):R143-50 - PubMed
  24. Nat Genet. 2008 Dec;40(12):1404-6 - PubMed
  25. Nat Genet. 2008 Jul;40(7):880-5 - PubMed
  26. Nat Genet. 2004 Apr;36(4):388-93 - PubMed
  27. Am J Hum Genet. 2007 Sep;81(3):559-75 - PubMed
  28. Int J Cancer. 2010 Dec 15;127(12):2974-80 - PubMed
  29. Nature. 2008 Apr 3;452(7187):638-642 - PubMed
  30. Genes Chromosomes Cancer. 2008 Sep;47(9):810-8 - PubMed
  31. Nat Genet. 2006 Aug;38(8):904-9 - PubMed
  32. Hum Mol Genet. 2004 Apr 1;13 Spec No 1:R57-64 - PubMed
  33. Nat Genet. 2008 Dec;40(12):1407-9 - PubMed
  34. Cancer Genet Cytogenet. 2005 Nov;163(1):7-11 - PubMed
  35. Lung Cancer. 2009 Dec;66(3):372-8 - PubMed
  36. Eur J Hum Genet. 2008 Jun;16(6):696-704 - PubMed
  37. J Thorac Oncol. 2008 Mar;3(3):212-5 - PubMed
  38. Cancer Res. 2000 Nov 1;60(21):6116-33 - PubMed
  39. Nature. 2006 Nov 23;444(7118):444-54 - PubMed

MeSH terms

Publication Types