Smoking and genetic risk variation across populations of European, Asian, and African American ancestry-a meta-analysis of chromosome 15q25

Genetic Epidemiology

Volumn 36, Issue 4, 2012, Pages 340-351

  Chen, Li Shiun ^a   Saccone, Nancy L ^a   Culverhouse, Robert C ^a   Bracci, Paige M ^b   Chen, Chien Hsiun ^c,d   Dueker, Nicole ^e   Han, Younghun ^f   Huang, Hongyan ^a   Jin, Guangfu ^g   Kohno, Takashi ^h   Ma, Jennie Z ⁱ   Przybeck, Thomas R ^a   Sanders, Alan R ^j   Smith, Jennifer A ^k   Sung, Yun Ju ^a   Wenzlaff, Angie S ^l   Wu, Chen ^m   Yoon, Dankyu ^n,o   Chen, Ying Ting ^c   Cheng, Yu Ching ^p   Cho, Yoon Shin ^o,q   David, Sean P ^r,s,t   Duan, Jubao ^j   Eaton, Charles B ^t   Furberg, Helena ^u   Goate, Alison M ^a   Gu, Dongfeng ^v,w   Hansen, Helen M ^x   Hartz, Sarah ^a   Hu, Zhibin ^g   Kim, Young Jin ^n,r   Kittner, Steven J ^e   Levinson, Douglas F ^y   Mosley, Thomas H ^k   Payne, Thomas J ^z   Rao, D C ^a   Rice, John P ^a   Rice, Treva K ^a   Schwantes An, Tae Hwi ^a   Shete, Sanjay S ^f   Shi, Jianxin ^aa   Spitz, Margaret R ^f   Sun, Yan V ^k   Tsai, Fuu Jen ^d   Wang, Jen C ^a   Wrensch, Margaret R ^x   Xian, Hong ^a   Gejman, Pablo V ^j   He, Jiang ^ab   Hunt, Steven C ^ac   Kardia, Sharon L ^k   Li, Ming D ^ad   Lin, Dongxin ^m   Mitchell, Braxton D ^o   Park, Taesung ⁿ   Schwartz, Ann G ^l   Shen, Hongbing ^g   Wiencke, John K ^x   Wu, Jer Yuarn ^c,d   Yokota, Jun ^h   Amos, Christopher I ^f   Bierut, Laura J ^a   more..

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c INSTITUTE OF BIOMEDICAL SCIENCES   (Taiwan)

^d CHINA MEDICAL UNIVERSITY   (Taiwan)

^e UNIVERSITY OF MARYLAND SCHOOL OF MEDICINE   (United States)

^f UNIVERSITY OF TEXAS MD ANDERSON CANCER CENTER   (United States)

^g NANJING MEDICAL UNIVERSITY   (China)

^h NATIONAL CANCER CENTER RESEARCH INSTITUTE   (Japan)

ⁱ UNIVERSITY OF VIRGINIA   (United States)

^j NORTHSHORE UNIVERSITY HEALTHSYSTEM   (United States)

^k UNIVERSITY OF MICHIGAN   (United States)

^l WAYNE STATE UNIVERSITY   (United States)

^m CANCER HOSPITAL   (China)

ⁿ Seoul National University   (South Korea)

^o Korea National Institute of Health   (South Korea)

^p UNIVERSITY OF MARYLAND MEDICAL CENTER   (United States)

^q Hallym University   (South Korea)

^r SRI INTERNATIONAL   (United States)

^s STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^t BROWN UNIVERSITY   (United States)

^u MEMORIAL SLOAN KETTERING CANCER CENTER   (United States)

^v FUWAI HOSPITAL   (China)

^w Chinese National Center for Cardiovascular Disease Control and Research   (China)

^x UNIVERSITY OF CALIFORNIA   (United States)

^y STANFORD UNIVERSITY   (United States)

^z UNIVERSITY OF MISSISSIPPI MEDICAL CENTER   (United States)

^aa NATIONAL CANCER INSTITUTE   (United States)

^ab TULANE UNIVERSITY   (United States)

^ac UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^ad UNIVERSITY OF VIRGINIA   (United States)

more..

Author keywords

Cross population; Genetics; Meta analysis; Smoking

Indexed keywords

ABORIGINE; AFRICAN AMERICAN; ARTICLE; ASIAN; CHROMOSOME 15Q; CHROMOSOME 15Q25; CIGARETTE SMOKING; CONTROLLED STUDY; EUROPE; FEMALE; GENETIC ASSOCIATION; GENETIC MARKER; GENETIC RISK; GENETIC VARIABILITY; HUMAN; MAJOR CLINICAL STUDY; MALE; META ANALYSIS (TOPIC); PHENOTYPE; SMOKING;

ADOLESCENT; ADULT; AFRICAN AMERICANS; AFRICAN CONTINENTAL ANCESTRY GROUP; AGED; AGED, 80 AND OVER; ASIAN CONTINENTAL ANCESTRY GROUP; CHROMOSOMES, HUMAN, PAIR 15; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENE FREQUENCY; GENETIC VARIATION; GENETICS, POPULATION; HUMANS; LUNG DISEASES; LUNG NEOPLASMS; MALE; MIDDLE AGED; ODDS RATIO; PHENOTYPE; RISK; SMOKING;

EID: 84860333167     PISSN: 07410395     EISSN: 10982272     Source Type: Journal    
DOI: 10.1002/gepi.21627     Document Type: Article

References (33)

1. Altshuler DM, Gibbs RA, Peltonen L, Dermitzakis E, Schaffner SF, Yu F, Bonnen PE, de Bakker PI, Deloukas P, Gabriel SB, Gwilliam R, Hunt S, Inouye M, Jia X, Palotie A, Parkin M, Whittaker P, Chang K, Hawes A, Lewis LR, Ren Y, Wheeler D, Muzny DM, Barnes C, Darvishi K, Hurles M, Korn JM, Kristiansson K, Lee C, McCarrol SA, Nemesh J, Keinan A, Montgomery SB, Pollack S, Price AL, Soranzo N, Gonzaga-Jauregui C, Anttila V, Brodeur W, Daly MJ, Leslie S, McVean G, Moutsianas L, Nguyen H, Zhang Q, Ghori MJ, McGinnis R, McLaren W, Takeuchi F, Grossman SR, Shlyakhter I, Hostetter EB, Sabeti PC, Adebamowo CA, Foster MW, Gordon DR, Licinio J, Manca MC, Marshall PA, Matsuda I, Ngare D, Wang VA, Reddy D, Rotimi CN, Royal CD, Sharp RR, Zeng C, Brooks LD, McEwen JE. 2010. Integrating common and rare genetic variation in diverse human populations. Nature 467(7311):52-58.
2. Amos CI, Gorlov IP, Dong Q, Wu X, Zhang H, Lu EY, Scheet P, Greisinger AJ, Mills GB, Spitz MR. 2010. Nicotinic acetylcholine receptor region on chromosome 15q25 and lung cancer risk among African Americans: a case-control study. J Natl Cancer Inst 102(15):1199-1205.
3. Baker TB, Weiss RB, Bolt D, von Niederhausern A, Fiore MC, Dunn DM, Piper ME, Matsunami N, Smith SS, Coon H, McMahon WM, Scholand MB, Singh N, Hoidal JR, Kim SY, Leppert MF, Cannon DS. 2009. Human neuronal acetylcholine receptor A5-A3-B4 haplotypes are associated with multiple nicotine dependence phenotypes. Nicotine Tob Res 11(7):785-796.
4. Berrettini W, Yuan X, Tozzi F, Song K, Francks C, Chilcoat H, Waterworth D, Muglia P, Mooser V. 2008. Alpha-5/alpha-3 nicotinic receptor subunit alleles increase risk for heavy smoking. Mol Psychiatry 13(4):368-373.
5. Bierut LJ, Stitzel JA, Wang JC, Hinrichs AL, Grucza RA, Xuei X, Saccone NL, Saccone SF, Bertelsen S, Fox L, Horton WJ, Morgan SD, Breslau N, Budde J, Cloninger CR, Dick DM, Foroud T, Hatsukami D, Hesselbrock V, Johnson EO, Kramer J, Kuperman S, Madden PAF, Mayo K, Nurnberger JJ, Pomerleau O, Porjesz B, Reyes O, Schuckit M, Swan GT, JA Edenberg, HJ, Rice, JP, Goate, AM. 2008. Nicotine dependence and the a5-a3-b4 nicotinic receptor gene cluster: variants in the nicotinic receptors alter the risk for nicotine dependence. Am J Psychiatry 9(165):1163-1171.
6. Carlson CS, Eberle MA, Rieder MJ, Yi Q, Kruglyak L, Nickerson DA. 2004. Selecting a maximally informative set of single-nucleotide polymorphisms for association analyses using linkage disequilibrium. Am J Hum Genet 74(1):106-120.
7. Durbin RM, Abecasis GR, Altshuler DL, Auton A, Brooks LD, Gibbs RA, Hurles ME, McVean GA. 2010. A map of human genome variation from population-scale sequencing. Nature 467(7319):1061-1073.
8. Falvella FS, Galvan A, Colombo F, Frullanti E, Pastorino U, Dragani TA. 2010. Promoter polymorphisms and transcript levels of nicotinic receptor CHRNA5. J Natl Cancer Inst 102(17):1366-1370.
9. Johnson AD, Handsaker RE, Pulit SL, Nizzari MM, O'Donnell CJ, de Bakker PI. 2008. SNAP: a web-based tool for identification and annotation of proxy SNPs using HapMap. Bioinformatics 24(24):2938-2939.
10. Keskitalo K, Broms U, Heliovaara M, Ripatti S, Surakka I, Perola M, Pitkaniemi J, Peltonen L, Aromaa A, Kaprio J. 2009. Association of serum cotinine level with a cluster of three nicotinic acetylcholine receptor genes (CHRNA3/CHRNA5/CHRNB4) on chromosome 15. Hum Mol Genet 18(20):4007-4012.
11. Li MD, Beuten J, Ma JZ, Payne TJ, Lou XY, Garcia V, Duenes AS, Crews KM, Elston RC. 2005. Ethnic- and gender-specific association of the nicotinic acetylcholine receptor alpha4 subunit gene (CHRNA4) with nicotine dependence. Hum Mol Genet 14(9):1211-1219.
12. Li MD, Yoon D, Lee JY, Han BG, Niu T, Payne TJ, Ma JZ, Park T. 2010. Associations of variants in CHRNA5/A3/B4 gene cluster with smoking behaviors in a Korean population. PLoS One 5(8):e12183.
13. 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, Laos 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. 2010. Meta-analysis and imputation refines the association of 15q25 with smoking quantity. Nat Genet 42(5):436-440.
14. Lumley T. 2009. rmeta: Meta-analysis, R package version 2.15.
15. Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, Bender D, Maller J, Sklar P, de Bakker PI, Daly MJ, Sham PC. 2007. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 81(3):559-575.
16. Rotimi CN, Jorde LB. 2010. Ancestry and disease in the age of genomic medicine. N Engl J Med 363(16):1551-1558.
17. Saccone NL, Saccone SF, Goate AM, Grucza RA, Hinrichs AL, Rice JP, Bierut LJ. 2008. In search of causal variants: refining disease association signals using cross-population contrasts. BMC Genet 9:58-68.
18. Saccone NL, Wang JC, Breslau N, Johnson EO, Hatsukami D, Saccone SF, Grucza RA, Sun L, Duan W, Budde J, Culverhouse RC, Fox L, Hinrichs AL, Steinbach JH, Wu M, Rice JP, Goate AM, Bierut LJ. 2009. The CHRNA5-CHRNA3-CHRNB4 nicotinic receptor subunit gene cluster affects risk for nicotine dependence in African-Americans and in European-Americans. Cancer Res 69(17):6848-6856.
19. Saccone NL, Culverhouse RC, Schwantes-An TH, Cannon DS, Chen X, Cichon S, Giegling I, Han S, Han Y, Keskitalo-Vuokko K, Kong X, Landi MT, Ma JZ, Short SE, Stephens SH, Stevens VL, Sun L, Wang Y, Wenzlaff AS, Aggen SH, Breslau N, Broderick P, Chatterjee N, Chen J, Heath AC, Heliovaara M, Hoft NR, Hunter DJ, Jensen MK, Martin NG, Montgomery GW, Niu T, Payne TJ, Peltonen L, Pergadia ML, Rice JP, Sherva R, Spitz MR, Sun J, Wang JC, Weiss RB, Wheeler W, Witt SH, Yang BZ, Caporaso NE, Ehringer MA, Eisen T, Gapstur SM, Gelemter J, Houlston R, Kaprio J, Kendler KS, Kraft P, Leppert MF, Li MD, Madden PA, Nothen MM, Pillai S, Rietschel M, Rujescu D, Schwartz A, Amos CI, Bierut LJ. 2010. Multiple independent loci at chromosome 15q25.1 affect smoking quantity: a meta-analysis and comparison with lung cancer and COPD. PLoS Genet 6(8).
20. Saccone SF, Hinrichs AL, Saccone NL, Chase GA, Konvicka K, Madden PA, Breslau N, Johnson EO, Hatsukami D, Pomerleau O, Swan GE, Goate AM, Rutter J, Bertelsen S, Fox L, Fugman D, Martin NG, Montgomery GW, Wang JC, Ballinger DG, Rice JP, Bierut LJ. 2007. Cholinergic nicotinic receptor genes implicated in a nicotine dependence association study targeting 348 candidate genes with 3713 SNPs. Hum Mol Genet 16(1):36-49.
21. Schwartz AG, Wenzlaff AS, Bock CH, Ruterbusch JJ, Chen W, Cote ML, Artis AS, Van Dyke AL, Land SJ, Harris CC, Pine SR, Spitz MR, Amos CI, Levin AM, McKeigue PM. 2010. Admixture mapping of lung cancer in 1812 African-Americans. Carcinogenesis 32(3):312-317.
22. Sherry ST, Ward MH, Kholodov M, Baker J, Phan L, Smigielski EM, Sirotkin K. 2001. dbSNP: the NCBI database of genetic variation. Nucleic Acids Res 29(1):308-311.
23. Sherva R, Wilhelmsen K, Pomerleau CS, Chasse SA, Rice JP, Snedecor SM, Bierut LJ, Neuman RJ, Pomerleau OF. 2008. Association of a single nucleotide polymorphism in neuronal acetylcholine receptor subunit alpha 5 (CHRNA5) with smoking status and with 'pleasurable buzz' during early experimentation with smoking. Addiction 103(9):1544-1552.
24. Shiraishi K, Kohno T, Kunitoh H, Watanabe S, Goto K, Nishiwaki Y, Shimada Y, Hirose H, Saito I, Kuchiba A, Yamamoto S, Yokota J. 2009. Contribution of nicotine acetylcholine receptor polymorphisms to lung cancer risk in a smoking-independent manner in the Japanese. Carcinogenesis 30(1):65-70.
25. Smith RM, Alachkar H, Papp AC, Wang D, Mash DC, Wang JC, Bierut LJ, Sadee W. 2010. Nicotinic alpha5 receptor subunit mRNA expression is associated with distant 5' upstream polymorphisms. Eur J Hum Genet 19:76-83.
26. Stevens VL, Bierut LJ, Talbot JT, Wang JC, Sun J, Hinrichs AL, Thun MJ, Goate A, Calle EE. 2008. Nicotinic receptor gene variants influence susceptibility to heavy smoking. Cancer Epidemiol Biomarkers Prev 17(12):3517-3525.
27. TAG. 2010. Genome-wide meta-analyses identify multiple loci associated with smoking behavior. Nat Genet 42(5):441-447.
28. Thorgeirsson TE, Geller F, Sulem P, Rafnar T, Wiste A, Magnusson KP, Manolescu A, Thorleifsson G, Stefansson H, Ingason A, Stacey SN, Bergthorsson JT, Thorlacius S, Gudmundsson J, Jonsson T, Jakobsdotlir M, Saemundsdottir J, Olafsdotlir O, Gudmundsson LJ, Bjornsdotlir G, Kristjansson K, Skuladotlir H, Isaksson HJ, Gudbjartsson T, Jones GT, Mueller T, Gotlsater A, Flex A, Aben KKH, de Vegt F, Mulders PFA, Isla D, Vidal MJ, Asin L, Saez B, Murillo L, Blondal T, Kolbeinsson H, Stefansson JG, Hansdotlir I, Runarsdottir V, Pola R, Lindblad B, van Rij AM, Dieplinger B, Haltmayer M, Mayordomo JI, Kiemeney LA, Matthiasson SE, Oskarsson H, Tyrfingsson T, Gudbjartsson DF, Gulcher JR, Jonsson S, Thorsteinsdottir U, Kong A, Stefansson K. 2008. A variant associated with nicotine dependence, lung cancer and peripheral arterial disease. Nature 452(3):638-642.
29. Thorgeirsson TE, Gudbjartsson DF, Surakka I, Vink JM, Amin N, Geller F, Sulem P, Rafnar T, Esko T, Walter S, Gieger C, Rawal R, Mangino M, Prokopenko I, Magi R, Keskitalo K, Gudjonsdotlir IH, Gretarsdottir S, Stefansson H, Thompson JR, Aulchenko YS, Nelis M, Aben KK, den Heijer M, Dirksen A, Ashraf H, Soranzo N, Valdes AM, Steves C, Uitterlinden AG, Hofman A, Tonjes A, Kovacs P, Hottenga JJ, Willemsen G, Vogelzangs N, Doring A, Dahmen N, Nitz B, Pergadia ML, Saez B, De Diego V, Lezcano V, GarciaPrats MD, Ripatti S, Perola M, Kettunen J, Hartikainen AL, Pouta A, Laitinen J, Isohanni M, Huei-Yi S, Allen M, Krestyaninova M, Hall AS, Jones GT, van Rij AM, Mueller T, Dieplinger B, Haltmayer M, Jonsson S, Matthiasson SE, Oskarsson H, Tyrfingsson T, Kiemeney LA, Mayordomo JI, Lindholt JS, Pedersen JH, Franklin WA, Wolf H, Montgomery GW, Heath AC, Martin NG, Madden PA, Giegling I, Rujescu D, Jarvelin MR, Salomaa V, Stumvoll M, Spector TD, Wichmann HE, Metspalu A, Samani NJ, Penninx BW, Oostra BA, Boomsma DI, Tiemeier H, van Duijn CM, Kaprio J, Gulcher JR, McCarthy MI, Peltonen L, Thorsteinsdotlir U, Stefansson K. 2010. Sequence variants at CHRNB3-CHRNA6 and CYP2A6 affect smoking behavior. Nat Genet 42(5):448-453.
30. Wang JC, Cruchaga C, Saccone NL, Bertelsen S, Liu P, Budde JP, Duan W, Fox L, Grucza RA, Kern J, Mayo K, Reyes O, Rice J, Saccone SF, Spiegel N, Steinbach JH, Stitzel JA, Anderson MW, You M, Stevens VL, Bierut LJ, Goate AM. 2009. Risk for nicotine dependence and lung cancer is conferred by mRNA expression levels and amino acid change in CHRNA5. Hum Mol Genet 19(6):3125-3135.
31. Weiss RB, Baker TB, Cannon DS, von Niederhausern A, Dunn DM, Matsunami N, Singh NA, Baird L, Coon H, McMahon WM, Piper ME, Fiore MC, Scholand MB, Connett JE, Kanner RE, Gahring LC, Rogers SW, Hoidal JR, Leppert MF. 2008. A candidate gene approach identifies the CHRNA5-A3-B4 region as a risk factor for age-dependent nicotine addiction. PLoS Genet 4(7):e1000125.
32. 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. 2009. Genetic variants on chromosome 15q25 associated with lung cancer risk in Chinese populations. Cancer Res 69(12):5065-5072.
33. Zaitlen N, Pasaniuc B, Gur T, Ziv E, Halperin E. 2010. Leveraging genetic variability across populations for the identification of causal variants. Am J Hum Genet 86(1):23-33.