The Functional Copy Number Variation-67048 in WWOX Contributes to Increased Risk of COPD in Southern and Eastern Chinese

References

• Mathers C, Boerma T, Fat DM, et al. The global burden of disease: 2004 update, 2008. World Health Organization.
   Google Scholar
• Zhong N, Wang C, Yao W, Chen P, Kang J, Huang S, Chen B, Wang C, Ni D, Zhou Y, Liu S, Wang X, Wang D, Lu J, Zheng J, Ran P. Prevalence of chronic obstructive pulmonary disease in China: a large, population-based survey. Am J Respir Crit Care Med 2007; 176:753–760.
   PubMed Web of Science ®Google Scholar
• Decramer M, Janssens W, Miravitlles M. Chronic obstructive pulmonary disease. Lancet 2012; 379: 1341–1351.
   PubMed Web of Science ®Google Scholar
• Bosse Y. Genetics of chronic obstructive pulmonary disease: a succinct review, future avenues and prospective clinical applications. Pharmacogenomics 2009; 10:655–667.
   PubMed Web of Science ®Google Scholar
• Sandford AJ, Joos L, Pare PD. Genetic risk factors for chronic obstructive pulmonary disease. Curr Opin Pulm Med 2002; 8:87–94.
   PubMed Web of Science ®Google Scholar
• Wilk JB, Shrine NR, Loehr LR, Zhao JH, Manichaikul A, Lopez LM, Smith AV, Heckbart SR, Smolonska J, Tang W, Loth DW, and over 50 other authors. Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction. Am J Respir Crit Care Med 2012; 186:622–632.
   PubMed Web of Science ®Google Scholar
• Cho MH, Castaldi PJ, Wan ES, Siedlinski M, Hersh CP, Demeo DL, Himes BE, Sylvia JS, Klanderman BJ, Ziniti JP, Lange C, Litonjus AA, Sparrow D, Regan EA, Make BJ, Hokanson JE, Murray T, Hetmanski JB, Pillai SG, Kong X, Anderson WH, Tal-Singer R, Lomas DA, Coxson HO, Edwards LD, MacNee W, Vesto J, Yates JC, Augusti A, Calverley PMA, Celli B, Crim C, Rennard S, Wouters E, Bakke P, Gulsvik A, Crapo JD, Beaty TH, Silverman EK, and on behalf of the ICGN, ECLIPSE, and COPDGene Investigaotrs. A genome-wide association study of COPD identifies a susceptibility locus on chromosome 19q13. Hum Mol Genet 2012; 21:947–957.
   PubMed Web of Science ®Google Scholar
• Soler Artigas M, Loth DW, Wain LV, Gharib SA, Obeidat M, Tang W, Zhai G, Zhao JH, Xmith AV, Huffman JE, Albrecht E, Jackson CM, Evans DM, Cadby G, Fornage M, Manichaikul A, Lopez LM, Johnson T, Aldrich MC, Aspelund T, and over 100 more. Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function. Nat Genet 2011; 43:1082–1090.
   PubMed Web of Science ®Google Scholar
• So HC, Gui AH, Cherny SS, Sham PC. Evaluating the heritability explained by known susceptibility variants: a survey of ten complex diseases. Genet Epidemiol 2011; 35:310–317.
   PubMed Web of Science ®Google Scholar
• Manolio TA, Collins FS, Cox NJ, Goldstein DB, Hindorff LA, Hunter DJ, McCarthy MI, Ramos EM, Cardon LR, Chakravartai A, Cho JH, Guttmacher AE, Kong A, Kruglyak L, Mardis E, Rotimi CN, Slatkin M, Valle D, Whittemore AS, Boehnke M, Clark AG, Eichler EE, Gibson G, Haines JL, Mackay TF, McCarroll SA, Visscher PM. Finding the missing heritability of complex diseases. Nature 2009; 461:747–753.
   PubMed Web of Science ®Google Scholar
• Stankiewicz P, Lupski JR. Structural variation in the human genome and its role in disease. Annu Rev Med 2010; 61:437–455.
   PubMed Web of Science ®Google Scholar
• Zhang F, Seeman P, Liu P, Weterman MAJ, Gonzaga-Jauregui C, Towne CF, Batish SD, DeVriendt E, De Jonghe P, Rautenstrauss B, Krause K-H, Khajavi M, Posadka J, Vandenberghe A, Palau F, Can Maldergem L, Baas F, Timmerman V, Lupski JR. Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability. Am J Hum Genet 2010; 86:892–903.
   PubMed Web of Science ®Google Scholar
• Eichler EE, Flint J, Gibson G, Kong A, Leal SM, Moore JH, Nadeau JH. Missing heritability and strategies for finding the underlying causes of complex disease. Nat Rev Genet 2010; 11:446–450.
   PubMed Web of Science ®Google Scholar
• Krepischi AC, Pearson PL, Rosenberg C. Germline copy number variations and cancer predisposition. Future Oncol 2012; 8:441–450.
   PubMed Web of Science ®Google Scholar
• Aitman TJ, Dong R, Vyse TJ, Norsworthy PJ, Johnson MD, Smith J, Mangion J, Roberton-Lowe C, Marshall AJ, Petretto E, Hodges MD, Bhangal G, Patel SG, Sheehan-Rooney K, Duda M, Cook PR, Evans DJ, Domin J, Flint J, Boyle JJ, Pusey Cd, Cook HT. Copy number polymorphism in Fcgr3 predisposes to glomerulonephritis in rats and humans. Nature 2006; 439:851–855.
   PubMed Web of Science ®Google Scholar
• Yang L, Liu B, Huang B, Deng J, Li H, Yu B, Qiu F, Cheng M, Wang H, Yang R, Yang X, Zhou Y, Lu J. A functional copy number variation in the WWOX gene is associated with lung cancer risk in Chinese. Hum Mol Genet 2013; 22:1886–1894.
   PubMed Web of Science ®Google Scholar
• Schwartz AG, Ruckdeschel JC. Familial lung cancer: genetic susceptibility and relationship to chronic obstructive pulmonary disease. Am J Respir Crit Care Med 2006; 173:16–22.
   PubMed Web of Science ®Google Scholar
• Young RP, Hopkins RJ. How the genetics of lung cancer may overlap with COPD. Respirology 2011; 16:1047–1055.
   PubMed Web of Science ®Google Scholar
• Huang D, Qiu F, Yang L, Li Y, Cheng M, Wang H, Ma Gn, Wang Y, Hu M, Ji W, Zhou Y, Lu J. The polymorphisms and haplotypes of WWOX gene are associated with the risk of lung cancer in southern and eastern Chinese populations. Mol Carcinog 2013; 52 Suppl 1: E19–27.
   Google Scholar
• O'Keefe LV, Colella A, Dayan S, Chen Q, Choo A, Jacob R, Price G, Venter D, Richards RI. Drosophila orthologue of WWOX, the chromosomal fragile site FRA16D tumour suppressor gene, functions in aerobic metabolism and regulates reactive oxygen species. Hum Mol Genet 2011; 20:497–509.
   PubMed Web of Science ®Google Scholar
• Houghton AM. Mechanistic links between COPD and lung cancer. Nat Rev Cancer 2013; 13:233–245.
   PubMed Web of Science ®Google Scholar
• Miller MR, Hankinson J, Brusasco V, Burgos F, Casaburi R, Coates A, Crapo R, Enright P, van der Grinten CPM, Gustafsson P, Jensen R, Johnson DC, MacIntyre N, McKay R, Navajas D, Pedersen OF, Pellegrino R, Viegl G, Wanger J. Standardization of spirometry, 1994 Update. American Thoracic Society. Am J Respir Crit Care Med 1995; 152:1107–1136.
   PubMed Web of Science ®Google Scholar
• Pellegrino R, Viegi G, Brusasco V, Crapo RO, Burgos F, Casaburi R, Coates A, van der Grinten CP, Gustafsson P, Hankinson J, Jensen R, Johnson DC, MacIntyre N, McKay R, Miller MR, Navajas D, Pedersen OF, Wanger J. Interpretative strategies for lung function tests. Eur Respir J 2005; 26:948–968.
   PubMed Web of Science ®Google Scholar
• Huang D, Yang L, Liu Y, Zhou Y, Guo Y, Pan M, Wang Y, Tan Y, Zhong H, Hu M, Lu W, Ji W, Wang J, Ran P, Zhong N, Zhou Y, Lu J. Functional polymorphisms in NF-κB1/IκBα predict risks of chronic obstructive pulmonary disease and lung cancer in Chinese. Hum Genet 2013; 132:451–460.
   PubMed Web of Science ®Google Scholar
• Yang L, Qiu F, Lu X, Huang D, Ma G, Guo Y, Hu M, Zhou Y, Pan M, Tan Y, Zhong H, Ji W, Wei Q, Ö Lu J. Functional polymorphisms of CHRNA3 predict risks of chronic obstructive pulmonary disease and lung cancer in Chinese. PLoS One 2012; 7:e46071.
   PubMed Web of Science ®Google Scholar
• Zhou Y, Hu G, Wang D, Wang S, Wang Y, Liu Z, Hu J, Shi Z, Peng G, Liu S, Lu J, Zheng J, Wang J, Zhong N, Ran P. Community based integrated intervention for prevention and management of chronic obstructive pulmonary disease (COPD) in Guangdong, China: cluster randomised controlled trial. Br Med J 2010; 341:c6387.
   PubMed Web of Science ®Google Scholar
• Buist AS, McBurnie MA, Vollmer WM, Gillespie S, Burney P, Manning DM, Menezes AMB, Sullivan SD, Lee TA, Weiss KB, Jensen RL, Marks GB, Gulsvik A, Nizankowska-Mogilnicka E, and the BOLD Collaborative Research Group. International variation in the prevalence of COPD (the BOLD Study): a population-based prevalence study. Lancet 2007; 370:741–750.
   PubMed Web of Science ®Google Scholar
• Buist AS, Vollmer WM, Sullivan SD, et al. The Burden of Obstructive Lung Disease Initiative (BOLD): rationale and design. COPD 2005; 2:277–283.
   PubMedGoogle Scholar
• Cheng X, Li J, Zhang Z. [Analysis of basic data of the study on prevention and treatment of COPD and chronic cor pulmonale]. Zhonghua Jie He He Hu Xi Za Zhi 1998; 21:749–752.
   PubMedGoogle Scholar
• Mayo P, Hartshorne T, Li K, et al. CNV analysis using TaqMan copy number assays. Curr Protoc Hum Genet 2010; 67: 2.13:2.13.1–2.13.10.
   Google Scholar
• Vattikuti S, Guo J, Chow CC. Heritability and genetic correlations explained by common SNPs for metabolic syndrome traits. PLoS Genet 2012; 8:e1002637.
   PubMed Web of Science ®Google Scholar
• Dupont WD, Plummer Jr WD. Power and sample size calculations for studies involving linear regression. Contr Clin Trials 1998; 19:589–601.
   PubMedGoogle Scholar
• Vestbo J, Hurd SS, AgustÌ AG, Jones PW, Vogelmeier C, Anzueto A, Barnes PJ, Fabbri LM, Martinez FJ, Nishimura M, Stockley RA, Sin DD, Rodriguez-Roisin R. Global strategy for the diagnosis, management, and prevention of chronic obstructive pulmonary disease: GOLD executive summary. Am J Respir Crit Care Med 2013;187:347–365.
   PubMed Web of Science ®Google Scholar
• Rosanna DP, Salvatore C. Reactive oxygen species, inflammation, and lung diseases. Curr Pharm Des 2012; 18:3889–3900.
   PubMed Web of Science ®Google Scholar
• Godschalk R, Curfs D, Bartsch H, Van Schooten FJ, Nair J. Benzo[a]pyrene enhances lipid peroxidation induced DNA damage in aorta of apolipoprotein E knockout mice. Free Radic Res 2003; 37:1299–1305.
   PubMed Web of Science ®Google Scholar
• Thavathiru E, Ludes-Meyers JH, MacLeod MC, Aldaz CM. Expression of common chromosomal fragile site genes, WWOX/FRA16D and FHIT/FRA3B is downregulated by exposure to environmental carcinogens, UV, and BPDE but not by IR. Mol Carcinog 2005; 44:174–182.
   PubMed Web of Science ®Google Scholar
• Chang NS, Pratt N, Heath J, Schultz L, Sleve D, Carey GB, Zevotek N. Hyaluronidase induction of a WW domain-containing oxidoreductase that enhances tumor necrosis factor cytotoxicity. J Biol Chem 2001; 276:3361–3370.
   PubMed Web of Science ®Google Scholar
• Dagouassat M, Gagliolo JM, Chrusciel S, Bourin MC, Duprez C, Caramelle P, Boyer L, Hue S, Stern JB, Validire P, Longrois D, Norel X, Dubois-Randè J, Le Gouvello S, Adnot S, Bockzkowski J. The cyclooxygenase-2-prostaglandin E2 pathway maintains senescence of chronic obstructive pulmonary disease fibroblasts. Am J Respir Crit Care Med 2013; 187:703–714.
   PubMed Web of Science ®Google Scholar
• Feuk L, Carson AR, Scherer SW. Structural variation in the human genome. Nat Rev Genet 2006; 7:85–97.
   PubMed Web of Science ®Google Scholar
• McCarroll SA, Hadnott TN, Perry GH, Sabeti PC, Zody MC, Barrett JC, Dallaire S, Gabriel SB, Lee C, Daly MJ, Altshuler DM, International HapMap Consortium. Common deletion polymorphisms in the human genome. Nat Genet 2006; 38:86–92.
   PubMed Web of Science ®Google Scholar
• Feuk L, Marshall CR, Wintle RF, Scherer SW. Structural variants: changing the landscape of chromosomes and design of disease studies. Hum Mol Genet 2006; 15 Spec No 1: R57–66.
   Google Scholar
• Lin H, Zheng Y, Ping Z, Li A. Using comparative genomic hybridization arrays (aCGH) techniques to detect chronic obstructive pulmonary disease related susceptibility regions. Intern J Bio-Sci Bio-Technol 2013; 5:121–130.
   Google Scholar