Cholinergic nicotinic receptor genes implicated in a nicotine dependence association study targeting 348 candidate genes with 3713 SNPs

Human Molecular Genetics

Volumn 16, Issue 1, 2007, Pages 36-49

  Saccone, Scott F ^a   Hinrichs, Anthony L ^a   Saccone, Nancy L ^a   Chase, Gary A ^b   Konvicka, Karel ^c   Madden, Pamela A F ^a   Breslau, Naomi ^d   Johnson, Eric O ^e   Hatsukami, Dorothy ^f   Pomerleau, Ovide ^g   Swan, Gary E ^h   Goate, Alison M ^a   Rutter, Joni ⁱ   Bertelsen, Sarah ^a   Fox, Louis ^a   Fugman, Douglas ^j   Martin, Nicholas G ^k   Montgomery, Grant W ^k   Wang, Jen C ^a   Ballinger, Dennis G ^c   Rice, John P ^a   Bierut, Laura Jean ^a   more..

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b PENN STATE COLLEGE OF MEDICINE   (United States)

^c Perlegen Sciences Inc   (United States)

^d MICHIGAN STATE UNIVERSITY   (United States)

^e RTI INTERNATIONAL   (United States)

^f UNIVERSITY OF MINNESOTA   (United States)

^g UNIVERSITY OF MICHIGAN HEALTH SYSTEM   (United States)

^h SRI INTERNATIONAL   (United States)

ⁱ NATIONAL INSTITUTE ON DRUG ABUSE   (United States)

^j Rutgers University   (United States)

^k QIMR BERGHOFER MEDICAL RESEARCH INSTITUTE   (Australia)

more..

Author keywords

[No Author keywords available]

Indexed keywords

4 AMINOBUTYRIC ACID RECEPTOR; CHOLINERGIC RECEPTOR; INWARDLY RECTIFYING POTASSIUM CHANNEL; NICOTINIC RECEPTOR; NICOTININC RECEPTOR ALPHA5; NICOTININC RECEPTOR BETA3; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CIGARETTE SMOKING; CONTROLLED STUDY; DIAGNOSTIC PROCEDURE; FEMALE; GENE IDENTIFICATION; GENE LOCUS; GENE TARGETING; GENETIC ASSOCIATION; GENETIC RISK; GENETIC VARIABILITY; HUMAN; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; RECESSIVE INHERITANCE; RISK ASSESSMENT; SIGNAL PROCESSING; SINGLE NUCLEOTIDE POLYMORPHISM; TOBACCO DEPENDENCE;

ADULT; AGED; AGED, 80 AND OVER; CASE-CONTROL STUDIES; CHROMOSOMES, HUMAN, PAIR 8; CLUSTER ANALYSIS; FEMALE; GENETIC MARKERS; GENOTYPE; HUMANS; MALE; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTORS, NICOTINIC; TOBACCO USE DISORDER; VARIATION (GENETICS);

EID: 33846510020     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddl438     Document Type: Article

References (46)

1. World Health Organization (2006) World Health Statistics 2006. WHO Press, http://www.who.int/whosis/whostat2006/en/index.html, accessed 14 December, 2006.
2. Warren, C.W., Jones, N.R., Eriksen, M.P. and Asma, S. (2006) Global Tobacco Surveillance System (GTSS) collaborative group. Patterns of global tobacco use in young people and implications for future chronic disease burden in adults. Lancet, 367, 749-753.
3. Tapper, A.R., Nashmi, R. and Lester, H.A. (2006) Neuronal nicotinic acetylcholine receptors and nicotine dependence. In Madras, B.K., Colvis, C.M., Pollock, J.D., Rutter, J.L., Shurtleff, D. and von Zastrow, M. (eds), Cell Biology of Addiction. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY.
4. Laviolette, S.R. and Van de Kooy, D. (2004) The neurobiology of nicotine addiction: Bridging the gap from molecules to behavior. Nat. Rev. Neurosci., 5, 55-65.
5. Corrigall, W.A., Coen, K.M. and Adamson, K.L. (1994) Self-administered nicotine activates the mesolimbic dopamine system through the ventral tegmental area. Brain Res., 653, 278-284.
6. World Health Organization (2006) The Tobacco Atlas. Types of Tobacco Use. http://www.who.int/tobacco/resources/publications/tobacco_atlas accessed 19 June, 2006.
7. Lessov, C.N., Martin, N.G., Statham, D.J., Todorov, A.A., Slutske, W.S., Bucholz, K.K., Heath, A.C. and Madden, P.A. (2004) Defining nicotine dependence for genetic research: Evidence from Australian twins. Psychol. Med., 34, 865-879.
8. Feng, Y., Niu, T., Xing, H., Xu, X., Chen, C., Peng, S., Wang, L., Laird, N. and Xu, X. (2004) A common haplotype of the nicotine acetylcholine receptor alpha 4 subunit gene is associated with vulnerability to nicotine addiction in men. Am. J. Hum. Genet., 75, 112-121.
9. Li, M.D., Beuten, J., Ma, J.Z., Payne, T.J., Lou, X.Y., Garcia, V., Duenes, A.S., Crews, K.M. and Elston, R.C. (2005) Ethnic- and gender-specific association of the nicotinic acetylcholine receptor alpha4 subunit gene (CHRNA4) with nicotine dependence. Hum. Mol. Genet., 14, 1211-1219.
10. Greenbaum, L., Kanyas, K., Karni, O., Merbl, Y., Olender, T., Horowitz, A., Yakir, A., Lancet, D., Ben-Asher, E. and Lerer, B. (2006) Why do young women smoke? I. Direct and interactive effects of environment, psychological characteristics and nicotinic cholinergic receptor genes. Mol. Psychiatr., 11, 312-322.
11. Boustead, C., Taber, H., Idle, J.R. and Cholerton, S. (1997) CYP2D6 genotype and smoking behaviour in cigarette smokers. Pharmacogenetics, 7, 411-414.
12. Pianezza, M.L., Sellers, E.M. and Tyndale, R.F. (1998) Nicotine metabolism defect reduces smoking. Nature, 393, 750.
13. Cholerton, S., Boustead, C., Taber, H., Arpanahi, A. and Idle, J.R. (1996) CYP2D6 genotypes in cigarette smokers and non-tobacco users. Pharmacogenetics, 6, 261-263.
14. Comings, D.E., Ferry, L., Bradshaw-Robinson, S., Burchette, R., Chiu, C. and Muhleman, D. (1996) The dopamine D2 receptor (DRD2) gene: A genetic risk factor in smoking. Pharmacogenetics, 6, 73-79.
15. Shields, P.G., Lerman, C., Audrain, J., Bowman, E.D., Main, D., Boyd, N.R. and Caporaso, N.E. (1998) Dopamine D4 receptors and the risk of cigarette smoking in African-Americans and Caucasians. Cancer Epidemiol. Biomarkers Prev., 7, 453-458.
16. Lerman, C., Caporaso, N.E., Audrain, J., Main, D., Bowman, E.D., Lockshin, B., Boyd, N.R. and Shields, P.G. (1999) Evidence suggesting the role of specific genetic factors in cigarette smoking. Health Psychol., 18, 14-20.
17. Spitz, M.R., Shi, H., Yang, F., Hudmon, K.S., Jiang, H., Chamberlain, R.M., Amos, C.I., Wan, Y., Cinciripini, P., Hong, W.K. and Wu, X. (1998) Case-control study of the D2 dopamine receptor gene and smoking status in lung cancer patients. J. Natl. Cancer Inst., 90, 358-363.
18. Beuten, J., Ma, J.Z., Payne, T.J., Dupont, R.T., Crews, K.M., Somes, G., Williams, N.J., Elston, R.C. and Li, M.D. (2005) Single- and multilocus allelic variants within the GABA(B) receptor subunit 2 (GABAB2) gene are significantly associated with nicotine dependence. Am. J. Hum. Genet., 76, 859-864.
19. Hu, S., Brody, C.L., Fisher, C., Gunzerath, L., Nelson, M.L., Sabol, S.Z., Sirota, L.A., Marcus, S.E., Greenberg, B.D., Murphy, D.L. and Hamer, D.H. (2000) Interaction between the serotonin transporter gene and neuroticism in cigarette smoking behavior. Mol. Psychiatry, 5, 181-188.
20. Lerman, C., Caporaso, N.E., Audrain, J., Main, D., Boyd, N.R. and Shields, P.G. (2000) Interacting effects of the serotonin transporter gene and neuroticism in smoking practices and nicotine dependence. Mol. Psychiatry, 5, 189-192.
21. Beuten, J., Ma, J.Z., Payne, T.J., Dupont, R.T., Quezada, P., Huang, W., Crews, K.M. and Li, M.D. (2005) Significant association of BDNF haplotypes in European-American male smokers but not in European-American female or African-American smokers. Am. J. Med. Genet. B Neuropsychiatr. Genet., 139B, 73-80.
22. Li, M.D. (2006) The genetics of nicotine dependence. Curr. Psychiatry Rep., 8, 158-164.
23. Bierut, L.J., Madden, P.A.F., Breslau, N., Johnson, E.O., Hatsukami, D., Pomerleau, O.F., Swan, G.E., Rutter, J., Bertelsen, S., Fox, L. et al. (2006) Novel genes identified in a high-density genome wide association study for nicotine dependence. Hum. Mol. Genet., 16, 24-35.
24. Hochberg, Y. and Benjamini, Y. (1990) More powerful procedures for multiple significance testing. Stat. Med., 9, 811-818.
25. Storey, J.D. (2002) A direct approach to false discovery rates. J. R. Stat. Soc. B, 64, 479-498.
26. CDC (2005) Annual smoking-attributable mortality, years of potential life lost, and productivity losses-United States. Morb Mortal Wkly Rep, 54, 625-628.
27. Lindstrom, J.M. (2003) Nicotinic acetylcholine receptors of muscles and nerves: Comparison of their structures, functional roles, and vulnerability to pathology. Ann. N.Y. Acad. Sci., 998, 41-52.
28. Salminen, O., Murphy, K.L., McIntosh, J.M., Drago, J., Marks, M.J., Collins, A.C. and Grady, S.R. (2004) Subunit composition and pharmacology of two classes of striatal presynaptic nicotinic acetylcholine receptors mediating dopamine release in mice. Mol. Pharmacol., 65, 1526-1535.
29. Cserzo, M., Wallin, E., Simon, I., von Heijne, G. and Elofsson, A. (1997) Prediction of transmembrane alpha-helices in prokaryotic membrane proteins: The dense alignment surface method. Protein Eng., 10, 673-676.
30. Stitzel, J.A., Dobelis, P., Jimenez, M. and Collins, A.C. (2001) Long sleep and short sleep mice differ in nicotine-stimulated 86Rb+ efflux and alpha4 nicotinic receptor subunit cDNA sequence. Pharmacogenetics, 4, 331-339.
31. Dobelis, P., Marks, M.J., Whiteaker, P., Balogh, S.A., Collins, A.C. and Stitzel, J.A. (2002) A polymorphism in the mouse neuronal alpha4 nicotinic receptor subunit results in an alteration in receptor function. Mol. Pharmacol., 62, 334-342.
32. Butt, C.M., Hutton, S.R., Stitzel, J.A., Balogh, S.A., Owens, J.C. and Collins, A.C. (2003) A polymorphism in the alpha4 nicotinic receptor gene (Chrna4) modulates enhancement of nicotinic receptor function by ethanol. Alcohol. Clin. Exp. Res., 27, 733-742.
33. Butt, C.M., King, N.M., Hutton, S.R., Collins, A.C. and Stitzel, J.A. (2005) Modulation of nicotine but not ethanol preference by the mouse Chrna4 A529T polymorphism. Behav. Neurosci., 119, 26-37.
34. Lewohl, J.M., Wilson, W.R., Mayfield, R.D., Brozowski, S.J., Morrisett, R.A. and Harris, R.A. (1999) G-protein-coupled inwardly rectifying potassium channels are targets of alcohol action. Nat. Neurosci., 12, 1084-1090.
35. Ma, J.Z., Beuten, J., Payne, T.J., Dupont, R.T., Elston, R.C. and Li, M.D. (2005) Haplotype analysis indicates an association between the DOPA decarboxylase (DDC) gene and nicotine dependence. Hum. Mol. Genet., 14, 1691-1698.
36. Heatherton, T.F., Kozlowski, L.T., Frecker, R.C. and Fagerström, K.O. (1991) The Fagerström test for nicotine dependence: A revision of the Fagerström tolerance questionnaire. Br. J. Addict., 86, 1119-1127.
37. Saccone, S.F., Rice, J.P. and Saccone, N.L. (2006) Power-based, phase-informed selection of single nucleotide polymorphisms for disease association screens. Genet. Epidemiol., 30, 459-470.
38. Hinds, D.A., Stuve, L.L., Nilsen, G.B., Halperin, E., Eskin, E., Ballinger, D.G., Frazer, K.A. and Cox, D.R. (2005) Whole-genome patterns of common DNA variation in three human populations. Science, 18, 1072-1079.
39. Pritchard, J.K., Stephens, M. and Donnelly, P.J. (2000) Inference of population structure using multilocus genotype data. Genetics, 155, 945-959.
40. SAS Institute Inc. (2004) SAS Release 9.1.3, Cary, NC.
41. Barrett, J.C., Fry, B., Maller, J. and Daly, M.J. (2005) Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics, 15, 263-265.
42. Carlson, C.S., Eberle, M.A., Rieder, M.J., Yi, Q., Kruglyak, L. and Nickerson, D.A. (2004) Selecting a maximally informative set of single-nucleotide polymorphisms for association analyses using linkage disequilibrium. Am. J. Hum. Genet., 74, 106-120.
43. Roeder, K., Bacanu, S.-A., Wasserman, L. and Devlin, B. (2006) Using linkage genome scans to improve power of association genome scans. Am. J. Hum. Genet., 78, 243-252.
44. Benjamini, Y. and Hochberg, Y. (1995) Controlling the false discovery rate: A practical and powerful approach to multiple testing. J. R. Stat. Soc. B, 57, 289-300.
45. Storey, J.D. and Tibshirani, R. (2003) Statistical significance for genomewide studies. Proc. Natl Acad. Sci., 100, 9440-9445.
46. Stein, L.D., Mungall, C., Shu, S., Caudy, M., Mangone, M., Day, A., Nickerson, E., Stajich, J.E., Harris, T.W., Arva, A. et al. (2002) The generic genome browser: A building block for a model organism system database. Genome Res., 12, 1599-1610.