CHRNA3 variant for lung cancer is associated with chronic obstructive pulmonary disease in Korea

Respiration

Volumn 86, Issue 2, 2013, Pages 117-122

  Kim, Woo Jin ^a   Oh, Yeon Mok ^b   Kim, Tae Hyung ^g   Lee, Ji Hyun ^h   Kim, Eun Kyung ^h   Lee, Jin Hwa ^c   Lee, Sang Min ^d   Shin, Tae Rim ^e   Yoon, Ho Il ⁱ   Lim, Seong Yong ^f   Lee, Sang Do ^b  

^a Kangwon National University   (South Korea)

^b University of Ulsan College of Medicine   (South Korea)

^c Mokdong Hospital   (South Korea)

^d Seoul National University Hospital   (South Korea)

^e Hallym University College of Medicine   (South Korea)

^f Sungkyunkwan University School of Medicine   (South Korea)

^g Hanyang University College of Medicine   (South Korea)

^h CHA University   (South Korea)

ⁱ Seoul National University College of Medicine   (South Korea)

Author keywords

CHRNA3; Chronic obstructive pulmonary disease; Genetic association

Indexed keywords

AGED; ARTICLE; CHRONIC OBSTRUCTIVE LUNG DISEASE; COMPUTER ASSISTED TOMOGRAPHY; CONTROLLED STUDY; DISEASE SEVERITY; EMPHYSEMA; FEMALE; GENE CHRNA3; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE; HUMAN; KOREA; LUNG CANCER; LUNG FUNCTION; MAJOR CLINICAL STUDY; MALE; MARKER GENE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

AGED; DNA, NEOPLASM; FEMALE; FOLLOW-UP STUDIES; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; INCIDENCE; LUNG NEOPLASMS; MALE; MIDDLE AGED; PHENOTYPE; POLYMORPHISM, GENETIC; PROSPECTIVE STUDIES; PULMONARY DISEASE, CHRONIC OBSTRUCTIVE; RECEPTORS, NICOTINIC; REPUBLIC OF KOREA;

EID: 84883180093     PISSN: 00257931     EISSN: 14230356     Source Type: Journal    
DOI: 10.1159/000342976     Document Type: Article

References (28)

1. Rabe KF, Hurd S, Anzueto A, Barnes PJ, Buist SA, Calverley P, Fukuchi Y, Jenkins C, Rodriguez-Roisin R, van Weel C, Zielinski J: Global strategy for the diagnosis, management, and prevention of chronic obstructive pulmonary disease: GOLD executive summary. Am J Respir Crit Care Med 2007; 176: 532-555.
2. Buist AS, McBurnie MA, Vollmer WM, Gillespie S, Burney P, Mannino DM, Menezes AMB, Sullivan SD, Lee TA, Weiss KB, Jensen RL, Marks GB, Gulsvik A, Nizankowska-Mogilnicka E: International variation in the prevalence of COPD (the BOLD study): a population-based prevalence study. Lancet 2007; 370: 741-750.
3. Regalado J, Perez-Padilla R, Sansores R, Paramo Ramirez JI, Brauer M, Pare P, Vedal S: The effect of biomass burning on respiratory symptoms and lung function in rural Mexican women. Am J Respir Crit Care Med 2006; 174: 901-905.
4. Wan ES, Silverman EK: Genetics of COPD and emphysema. Chest 2009; 136: 859-866.
5. Weiss ST: What genes tell us about the pathogenesis of asthma and chronic obstructive pulmonary disease. Am J Respir Crit Care Med 181: 1170-1173.
6. Hung RJ, McKay JD, Gaborieau V, Boffetta P, Hashibe M, Zaridze D, Mukeria A, Szeszenia-Dabrowska N, Lissowska J, Rudnai P, Fabianova E, Mates D, Bencko V, Foretova L, Janout V, Chen C, Goodman G, Field JK, Liloglou T, Xinarianos G, Cassidy A, McLaughlin J, Liu G, Narod S, Krokan HE, Skorpen F, Elvestad MB, Hveem K, Vatten L, Linseisen J, Clavel-Chapelon F, Vineis P, Bueno-de-Mesquita HB, Lund E, Martinez C, Bingham S, Rasmuson T, Hainaut P, Riboli E, Ahrens W, Benhamou S, Lagiou P, Trichopoulos D, Holcatova I, Merletti F, Kjaerheim K, Agudo A, Macfarlane G, Talamini R, Simonato L, Lowry R, Conway DI, Znaor A, Healy C, Zelenika D, Boland A, Delepine M, Foglio M, Lechner D, Matsuda F, Blanche H, Gut I, Heath S, Lathrop M, Brennan P: A susceptibility locus for lung cancer maps to nicotinic acetylcholine receptor subunit genes on 15q25. Nature 2008; 452: 633-637.
7. Amos CI, Wu X, Broderick P, Gorlov IP, Gu J, Eisen T, Dong Q, Zhang Q, Gu X, Vijayakrishnan J, Sullivan K, Matakidou A, Wang Y, Mills G, Doheny K, Tsai Y-Y, Chen WV, Shete S, Spitz MR, Houlston RS: Genomewide association scan of tag SNPs identifies a susceptibility locus for lung cancer at 15q25.1. Nat Genet 2008; 40: 616-622.
8. Young RP, Hopkins RJ, Hay BA, Epton MJ, Black PN, Gamble GD: Lung cancer gene associated with COPD: triple whammy or possible confounding effect? Eur Respir J 2008; 32: 1158-1164.
9. Pillai SG, Ge D, Zhu G, Kong X, Shianna KV, Need AC, Feng S, Hersh CP, Bakke P, Gulsvik A, Ruppert A, Lødrup Carlsen KC, Roses A, Anderson W, Rennard SI, Lomas DA, Silverman EK, Goldstein DB, Investigators I: A genome-wide association study in chronic obstructive pulmonary disease: identification of two major susceptibility loci. PLoS Genet 2009; 5:e1000421.
10. DeMeo DL, Mariani T, Bhattacharya S, Srisuma S, Lange C, Litonjua A, Bueno R, Pillai SG, Lomas DA, Sparrow D, Shapiro SD, Criner GJ, Kim HP, Chen Z, Choi AMK, Reilly J, Silverman EK: Integration of genomic and genetic approaches implicates IREB2 as a COPD susceptibility gene. Am J Hum Genet 2009; 85: 493-502.
11. Lambrechts D, Buysschaert I, Zanen P, Coolen J, Lays N, Cuppens H, Groen HJ, Dewever W, van Klaveren RJ, Verschakelen J, Wijmenga C, Postma DS, Decramer M, Janssens W: The 15q24/25 susceptibility variant for lung cancer and chronic obstructive pulmonary disease is associated with emphysema. Am J Respir Crit Care Med 2010; 181: 486-493.
12. Wu C, Hu Z, Yu D, Huang L, Jin G, Liang J, Guo H, Tan W, Zhang M, Qian J, Lu D, Wu T, Lin D, Shen H: Genetic variants on chromosome 15q25 associated with lung cancer risk in Chinese populations. Cancer Res 2009; 69: 5065-5072.
13. Kim WJ, Oh YM, Sung J, Lee YK, Seo JB, Kim N, Kim TH, Huh JW, Lee JH, Kim EK, Lee JH, Lee SM, Lee S, Lim SY, Shin TR, Yoon HI, Kwon SY, Lee SD: CT scanning-based phenotypes vary with ADRB2 polymorphisms in chronic obstructive pulmonary disease. Respir Med 2009; 103: 98-103.
14. Standardization of spirometry, 1994 update. Am J Respir Crit Care Med 1995; 152: 1107-1136.
15. Cho YS, Go MJ, Kim YJ, Heo JY, Oh JH, Ban HJ, Yoon D, Lee MH, Kim DJ, Park M, Cha SH, Kim JW, Han BG, Min H, Ahn Y, Park MS, Han HR, Jang HY, Cho EY, Lee JE, Cho NH, Shin C, Park T, Park JW, Lee JK, Cardon L, Clarke G, McCarthy MI, Lee JY, Lee JK, Oh B, Kim HL: A large-scale genome-wide association study of Asian populations uncovers genetic factors influencing eight quantitative traits. Nat Genet 2009; 41: 527-534.
16. Barrett JC, Fry B, Maller J, Daly MJ: Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 2005; 21: 263-265.
17. Shiraishi K, Kohno T, Kunitoh H, Watanabe S, Goto K, Nishiwaki Y, Shimada Y, Hirose H, Saito I, Kuchiba A, Yamamoto S, Yokota J: Contribution of nicotine acetylcholine receptor polymorphisms to lung cancer risk in a smoking-independent manner in the Japanese. Carcinogenesis 2009; 30: 65-70.
18. Niu X, Chen Z, Shen S, Liu Y, Zhou D, Zhang J, Li Z, Yu Y, Liao M, Lu S, He L: Association of the CHRNA3 locus with lung cancer risk and prognosis in Chinese Han population. J Thorac Oncol 2010; 5: 658-666.
19. Young RP, Hopkins RJ: How the genetics of lung cancer may overlap with COPD. Respirology 2011; 16: 1047-1055.
20. Adcock IM, Caramori G, Barnes PJ: Chronic obstructive pulmonary disease and lung cancer: new molecular insights. Respiration 2011; 81: 265-284.
21. Pillai SG, Kong X, Edwards LD, Cho MH, Anderson WH, Coxson HO, Lomas DA, Silverman EK: Loci identified by genome-wide association studies influence different disease-related phenotypes in chronic obstructive pulmonary disease. Am J Respir Crit Care Med 2010; 182: 1498-1505.
22. Siedlinski M, Cho MH, Bakke P, et al: Genome-wide association study of smoking behaviours in patients with COPD. Thorax 2011; 66: 894-902.
23. Li MD, Yoon D, Lee JY, Han BG, Niu T, Payne TJ, Ma JZ, Park T: Associations of variants in CHRNA5/A3/B4 gene cluster with smoking behaviors in a Korean population. PLoS One 2010; 5:e12183.
24. Erlich P, Hoffman S, Rukstalis M, Han J, Chu X, Linda Kao W, Gerhard G, Stewart W, Boscarino J: Nicotinic acetylcholine receptor genes on chromosome 15q25.1 are associated with nicotine and opioid dependence severity. Hum Genet 2010; 128: 491-499.
25. Liu JZ, Tozzi F, Waterworth DM, Pillai SG, Muglia P, Middleton L, Berrettini W, Knouff CW, Yuan X, Waeber G, Vollenweider P, Preisig M, Wareham NJ, Zhao JH, Loos RJ, Barroso I, Khaw KT, Grundy S, Barter P, Mahley R, Kesaniemi A, McPherson R, Vincent JB, Strauss J, Kennedy JL, Farmer A, McGuffin P, Day R, Matthews K, Bakke P, Gulsvik A, Lucae S, Ising M, Brueckl T, Horstmann S, Wichmann HE, Rawal R, Dahmen N, Lamina C, Polasek O, Zgaga L, Huffman J, Campbell S, Kooner J, Chambers JC, Burnett MS, Devaney JM, Pichard AD, Kent KM, Satler L, Lindsay JM, Waksman R, Epstein S, Wilson JF, Wild SH, Campbell H, Vitart V, Reilly MP, Li M, Qu L, Wilensky R, Matthai W, Hakonarson HH, Rader DJ, Franke A, Wittig M, Schafer A, Uda M, Terracciano A, Xiao X, Busonero F, Scheet P, Schlessinger D, St Clair D, Rujescu D, Abecasis GR, Grabe HJ, Teumer A, Volzke H, Petersmann A, John U, Rudan I, Hayward C, Wright AF, Kolcic I, Wright BJ, Thompson JR, Balmforth AJ, Hall AS, Samani NJ, Anderson CA, Ahmad T, Mathew CG, Parkes M, Satsangi J, Caulfield M, Munroe PB, Farrall M, Dominiczak A, Worthington J, Thomson W, Eyre S, Barton A, Mooser V, Francks C, Marchini J: Metaanalysis and imputation refines the association of 15q25 with smoking quantity. Nat Genet 2010; 42: 436-440.
26. Minna JD: Nicotine exposure and bronchial epithelial cell nicotinic acetylcholine receptor expression in the pathogenesis of lung cancer. J Clin Invest 2003; 111: 31-33.
27. Gwilt CR, Donnelly LE, Rogers DF: The nonneuronal cholinergic system in the airways: an unappreciated regulatory role in pulmonary inflammation? Pharmacol Ther 2007; 115: 208-222.
28. Castaldi PJ, Cho MH, Cohn M, Langerman F, Moran S, Tarragona N, Moukhachen H, Venugopal R, Hasimja D, Kao E, Wallace B, Hersh CP, Bagade S, Bertram L, Silverman EK, Trikalinos TA: The COPD genetic association compendium: a comprehensive online database of COPD genetic associations. Hum Mol Genet 2010; 19: 526-534.