Substance dependence low-density whole genome association study in two distinct American populations

Human Genetics

Volumn 123, Issue 5, 2008, Pages 495-506

  Yu, Yi ^a   Kranzler, Henry R ^c   Panhuysen, Carolien ^a   Weiss, Roger D ^d   Poling, James ^e   Farrer, Lindsay A ^a,b   Gelernter, Joel ^e  

^a BOSTON UNIVERSITY   (United States)

^b BOSTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF CONNECTICUT SCHOOL OF MEDICINE   (United States)

^d HARVARD MEDICAL SCHOOL   (United States)

^e YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA ENDOMANOSIDASE; GENE PRODUCT;

ADULT; AFRICAN AMERICAN; ALCOHOLISM; ARTICLE; CLINICAL PROTOCOL; COCAINE DEPENDENCE; CONTROLLED STUDY; DIAGNOSTIC AND STATISTICAL MANUAL OF MENTAL DISORDERS; DRUG DEPENDENCE; EUROPEAN AMERICAN; FAMILY STUDY; FEMALE; GENETIC ASSOCIATION; GENETIC MARKER; GENETIC RISK; GENOME ANALYSIS; GENOTYPE; HERITABILITY; HUMAN; MAJOR CLINICAL STUDY; MALE; NUCLEOTIDE SEQUENCE; OPIATE ADDICTION; PARANOIA; POPULATION RESEARCH; PRIORITY JOURNAL; RISK ASSESSMENT; SINGLE NUCLEOTIDE POLYMORPHISM; TOBACCO DEPENDENCE; UNITED STATES;

ADULT; AFRICAN AMERICANS; COCAINE-RELATED DISORDERS; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENE FREQUENCY; GENOME, HUMAN; HUMANS; MALE; OPIOID-RELATED DISORDERS; POLYMORPHISM, SINGLE NUCLEOTIDE; SUBSTANCE-RELATED DISORDERS; UNITED STATES;

EID: 44149127926     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-008-0501-0     Document Type: Article

References (67)

1. Agrawal A, Edenberg H.J, Foroud T, Bierut LJ, Dunne G, Hinrichs AL, Nurnberger JI, Crowe R, Kuperman S, Schuckit MA et al (2006) Association of GABRA2 with drug dependence in the collaborative study of the genetics of alcoholism sample. Behav Genet 36:640-650
2. Agrawal A, Hinrichs AL, Dunn G, Bertelsen S, Dick DM, Saccone SF, Saccone NL, Grucza RA, Wang JC, Cloninger CR et al (2007) Linkage scan for quantitative traits identifies new regions of interest for substance dependence in the Collaborative Study on the Genetics of Alcoholism (COGA) sample. Drug Alcohol Depend
3. American Psychiatric Association (1994) Diagnostic and statistical manual of mental disorders, 4th edn. American Psychiatric Press, Washington, D.C
4. Bart G, Heilig M, LaForge KS, Pollak L, Leal SM, Ott J, Kreek MJ (2004) Substantial attributable risk related to a functional mu-opioid receptor gene polymorphism in association with heroin addiction in central Sweden. Mol Psychiatry 9:547-549
5. 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 13:368-373
6. Bierut LJ, Madden PA, Breslau N, Johnson EO, Hatsukami D, Pomerleau OF, Swan GE, Rutter J, Bertelsen S, Fox L et al (2007) Novel genes identified in a high-density genome wide association study for nicotine dependence. Hum Mol Genet 16:24-35
7. Brognard J, Sierecki E, Gao T, Newton AC (2007) PHLPP and a second isoform, PHLPP2, differentially attenuate the amplitude of Akt signaling by regulating distinct Akt isoforms. Mol Cell 25:917-931
8. Carlisle DL, Liu X, Hopkins TM, Swick MC, Dhir R, Siegfried JM (2007) Nicotine activates cell-signaling pathways through muscle-type and neuronal nicotinic acetylcholine receptors in non-small cell lung cancer cells. Pulm Pharmacol Ther 20:629-641
9. Chanock SJ, Manolio T, Boehnke M, Boerwinkle E, Hunter DJ, Thomas G, Hirschhorn JN, Abecasis G, Altshuler D, Bailey-Wilson JE et al (2007) Replicating genotype-phenotype associations. Nature 447: 655-660
10. Christensen K, Murray JC (2007) What genome-wide association studies can do for medicine. N Engl J Med 356:1094-1097
11. Chung RH, Morris RW, Zhang L, Li YJ, Martin ER (2007) X-APL: An improved family-based test of association in the presence of linkage for the X chromosome. Am J Hum Genet 80:59-68
12. Colhoun HM, McKeigue PM, Davey Smith G (2003) Problems of reporting genetic associations with complex outcomes. Lancet 361:865-872
13. Covault J, Gelernter J, Hesselbrock V, Nellissery M, Kranzler HR (2004) Allelic and haplotypic association of GABRA2 with alcohol dependence. Am J Med Genet B Neuropsychiatr Genet 129:104-109
14. Crawley AC, Walkley SU (2007) Developmental analysis of CNS pathology in the lysosomal storage disease alpha-mannosidosis. J Neuropathol Exp Neurol 66:687-697
15. Dick DM, Bierut LJ (2006) The genetics of alcohol dependence. Curr Psychiatry Rep 8:151-157
16. Ding J, Lin S, Liu Y (2006) Monte Carlo pedigree disequilibrium test for markers on the X chromosome. Am J Hum Genet 79:567-573
17. Edenberg HJ, Xuei X, Chen HJ, Tian H, Wetherill LF, Dick DM, Almasy L, Bierut L, Bucholz KK, Goate A et al (2006) Association of alcohol dehydrogenase genes with alcohol dependence: A comprehensive analysis. Hum Mol Genet 15:1539-1549
18. Fagerstrom KO (1978) Measuring degree of physical dependence to tobacco smoking with reference to individualization of treatment. Addict Behav 3:235-241
19. Fehr C, Sander T, Tadic A, Lenzen KP, Anghelescu I, Klawe C, Dahmen N, Schmidt LG, Szegedi A (2006) Confirmation of association of the GABRA2 gene with alcohol dependence by subtype-specific analysis. Psychiatr Genet 16:9-17
20. Gelernter J, Liu X, Hesselbrock V, Page G.P, Goddard A, Zhang H (2004) Results of a genomewide linkage scan: Support for chromosomes 9 and 11 loci increasing risk for cigarette smoking. Am J Med Genet B Neuropsychiatr Genet 128:94-101
21. Gelernter J, Panhuysen C, Weiss R, Brady K, Hesselbrock V, Rounsaville B, Poling J, Wilcox M, Farrer L, Kranzler HR (2005) Genomewide linkage scan for cocaine dependence and related traits: Significant linkages for a cocaine-related trait and cocaine-induced paranoia. Am J Med Genet B Neuropsychiatr Genet 136:45-52
22. Gelernter J, Panhuysen C, Wilcox M, Hesselbrock V, Rounsaville B, Poling J, Weiss R, Sonne S, Zhao H, Farrer L et al (2006a) Genomewide linkage scan for opioid dependence and related traits. Am J Hum Genet 78:759-769
23. Gelernter J, Yu Y, Weiss R, Brady K, Panhuysen C, Yang BZ, Kranzler HR, Farrer L (2006b) Haplotype spanning TTC12 and ANKK1, flanked by the DRD2 and NCAM1 loci, is strongly associated to nicotine dependence in two distinct American populations. Hum Mol Genet 15:3498-3507
24. Gelernter J, Panhuysen C, Weiss R, Brady K, Poling J, Krauthammer M, Farrer L, Kranzler HR (2007) Genomewide linkage scan for nicotine dependence: Identification of a chromosome 5 risk locus. Biol Psychiatry 61:119-126
25. Guindalini C, Scivoletto S, Ferreira RG, Breen G., Zilberman M, Peluso MA, Zatz M (2005) Association of genetic variants in alcohol dehydrogenase 4 with alcohol dependence in Brazilian patients. Am J Psychiatry 162:1005-1007
26. Harlan JE, Hajduk PJ, Yoon HS, Fesik SW (1994) Pleckstrin homology domains bind to phosphatidylinositol-4,5-bisphosphate. Nature 371:168-170
27. Heatherton TF, Kozlowski LT, Frecker RC, Fagerstrom KO (1991) The Fagerstrom Test for Nicotine Dependence: A revision of the Fagerstrom Tolerance Questionnaire. Br J Addict 86:1119-1127
28. Hirschhorn JN, Daly MJ (2005) Genome-wide association studies for common diseases and complex traits. Nat Rev Genet 6:95-108
29. Horvath S, Xu X, Laird NM (2001) The family based association test method: Strategies for studying general genotype-phenotype associations. Eur J Hum Genet 9:301-306
30. Karkowski LM, Prescott CA, Kendler KS (2000) Multivariate assessment of factors influencing illicit substance use in twins from female-female pairs. Am J Med Genet 96: 665-670
31. Kendler KS, Prescott CA (1998) Cocaine use, abuse and dependence in a population-based sample of female twins. Br J Psychiatry 173:345-350
32. Kendler KS, Thornton LM, Pedersen NL (2000) Tobacco consumption in Swedish twins reared apart and reared together. Arch Gen Psychiatry 57:886-892
33. Kendler KS, Jacobson KC, Prescott CA, Neale MC (2003) Specificity of genetic and environmental risk factors for use and abuse/dependence of cannabis, cocaine, hallucinogens, sedatives, stimulants, and opiates in male twins. Am J Psychiatry 160:687-695
34. Kranzler HR, Gelernter J, O'Malley S, Hernandez-Avila CA, Kaufman D (1998) Association of alcohol or other drug dependence with alleles of the μ opioid receptor gene (OPRM1). Alc Clin Exp Res 22:1359-1362
35. Kruglyak L (1999) Prospects for whole-genome linkage disequilibrium mapping of common disease genes. Nat Genet 22:139-144
36. Lachman HM, Fann CS, Bartzis M, Evgrafov OV, Rosenthal RN, Nunes EV, Miner C, Santana M, Gaffney J, Riddick A et al (2007) Genomewide suggestive linkage of opioid dependence to chromosome 14q. Hum Mol Genet 16:1327-1334
37. Lappalainen J, Krupitsky E, Remizov M, Pchelina S, Taraskina A, Zvartau E, Somberg LK, Covault J, Kranzler HR, Krystal JH et al (2005) Association between alcoholism and gamma-amino butyric acid alpha2 receptor subtype in a Russian population. Alcohol Clin Exp Res 29:493-498
38. Li MD (2008) Identifying susceptibility loci for nicotine dependence: 2008 update based on recent genome-wide linkage analyses. Hum Genet 123:119-131
39. Li MD, Payne TJ, Ma JZ, Lou XY, Zhang D, Dupont RT, Crews KM, Somes G, Williams NJ, Elston RC (2006) A genomewide search finds major susceptibility loci for nicotine dependence on chromosome 10 in African Americans. Am J Hum Genet 79:745-751
40. Li MD, Ma JZ, Payne TJ, Lou XY, Zhang D, Dupont RT, Elston RC (2008) Genome-wide linkage scan for nicotine dependence in European Americans and its converging results with African Americans in the Mid-South Tobacco Family sample. Mol Psychiatry 13:407-416
41. Loukola A, Broms U, Maunu H, Widen E, Heikkila K, Siivola M, Salo A, Pergadia ML, Nyman E, Sammalisto S et al (2007) Linkage of nicotine dependence and smoking behavior on 10q, 7q and 11p in twins with homogeneous genetic background. Pharmacogenomics J. 1-11 [Epub ahead of print]
42. Luo X, Kranzler HR, Zhao H, Gelernter J (2003) Haplotypes at the OPRM1 locus are associated with susceptibility to substance dependence in European-Americans. Am J Med Genet B Neuropsychiatr Genet 120: 97-108
43. Luo X, Kranzler HR, Zuo L, Wang S, Blumberg HP, Gelernter J (2005a) CHRM2 gene predisposes to alcohol dependence, drug dependence and affective disorders: Results from an extended case-control structured association study. Hum Mol Genet 14:2421-2434
44. Luo X, Kranzler HR, Zuo L, Yang BZ, Lappalainen J, Gelernter J (2005b) ADH4 gene variation is associated with alcohol and drug dependence: results from family controlled and population-structured association studies. Pharmacogenet Genomics 15:755-768
45. Luo X, Kranzler HR, Zuo L, Lappalainen J, Yang BZ, Gelernter J (2006) ADH4 gene variation is associated with alcohol dependence and drug dependence in European Americans: Results from HWD tests and case-control association studies. Neuropsychopharmacology 31:1085-1095
46. Ma JZ, Beuten J, Payne TJ, Dupont RT, Elston RC, Li MD (2005) Haplotype analysis indicates an association between the DOPA decarboxylase (DDC) gene and nicotine dependence. Hum Mol Genet 14:1691-1698
47. Maes T, Barcelo A, Buesa C (2002) Neuron navigator: A human gene family with homology to unc-53, a cell guidance gene from Caenorhabditis elegans. Genomics 80:21-30
48. Maystadt I, Rezsohazy R, Barkats M, Duque S, Vannuffel P, Remacle S, Lambert B, Najimi M, Sokal E, Munnich A et al (2007) The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset. Am J Hum Genet 81:67-76
49. O'Connell JR, Weeks DE (1998) PedCheck: A program for identification of genotype incompatibilities in linkage analysis. Am J Hum Genet 63:259-266
50. Pierucci-Lagha A, Gelernter J, Feinn R, Cubells JF, Pearson D, Pollastri A, Farrer L, Kranzler HR (2005) Diagnostic reliability of the semi-structured assessment for drug dependence and alcoholism (SSADDA). Drug Alcohol Depend 80:303-312
51. Pierucci-Lagha A, Gelernter J, Chan G, Arias A, Cubells JF, Farrer L, Kranzler HR (2007) Reliability of DSM-IV diagnostic criteria using the semi-structured assessment for drug dependence and alcoholism (SSADDA). Drug Alcohol Depend 91:85-90
52. Risch N, Merikangas K (1996) The future of genetic studies of complex human diseases. Science 273:1516-1517
53. Saccone SF, Hinrichs AL, Saccone NL, Chase GA, Konvicka K, Madden PA, Breslau N, Johnson EO, Hatsukami D, Pomerleau O et al (2007) Cholinergic nicotinic receptor genes implicated in a nicotine dependence association study targeting 348 candidate genes with 3713 SNPs. Hum Mol Genet 16:36-49
54. Saraswati S, Adolfsen B, Littleton JT (2007) Characterization of the role of the Synaptotagmin family as calcium sensors in facilitation and asynchronous neurotransmitter release. Proc Natl Acad Sci USA 104:14122-14127
55. Skol AD, Scott LJ, Abecasis GR, Boehnke M (2006) Joint analysis is more efficient than replication-based analysis for two-stage genome-wide association studies. Nat Genet 38:209-213
56. Soyka M, Preuss UW, Hesselbrock V, Zill P, Koller G, Bondy B (2008) GABA-A2 receptor subunit gene (GABRA2) polymorphisms and risk for alcohol dependence. J Psychiatr Res 42:184-191
57. Tabor HK, Risch NJ, Myers RM (2002) Opinion: Candidate-gene approaches for studying complex genetic traits: Practical considerations. Nat Rev Genet 3:391-397
58. The Welcome Trust Case Control Consortium (2007) Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature 447:661-678
59. True WR, Xian H, Scherrer JF, Madden PA, Bucholz KK, Heath AC, Eisen SA, Lyons MJ, Goldberg J, Tsuang M (1999) Common genetic vulnerability for nicotine and alcohol dependence in men. Arch Gen Psychiatry 56:655-661
60. Tsuang MT, Lyons MJ, Eisen SA, Goldberg J, True W, Lin N, Meyer JM, Toomey R, Faraone SV, Eaves L (1996) Genetic influences on DSM-III-R drug abuse and dependence: A study of 3,372 twin pairs. Am J Med Genet 67:473-477
61. Van Steen K, McQueen MB, Herbert A, Raby B, Lyon H, Demeo DL, Murphy A, Su J, Datta S, Rosenow C, Christman M, Silverman EK, Laird NM, Weiss ST, Lange C (2005) Genomic screening and replication using the same data set in family-based association testing. Nat Genet 37:683-691
62. Wang JC, Hinrichs AL, Stock H, Budde J, Allen R, Bertelsen S, Kwon JM, Wu W, Dick DM, Rice J et al (2004) Evidence of common and specific genetic effects: Association of the muscarinic acetylcholine receptor M2 (CHRM2) gene with alcohol dependence and major depressive syndrome. Hum Mol Genet 13:1903-1911
63. WHO (2004) Neuroscience of psychoactive substance use and dependence. WHO
64. Yang BZ, Kranzler HR, Zhao H, Gruen JR, Luo X, Gelernter J (2007) Association of Haplotypic Variants in DRD2, ANKK1, TTC12 and NCAM1 to Alcohol Dependence in Independent Case-control and Family Samples. Hum Mol Genet 16(23):2844-2853
65. Yu Y, Panhuysen C, Kranzler HR, Hesselbrock V, Rounsaville B, Weiss R, Brady K, Farrer LA, Gelernter J (2006) Intronic variants in the dopa decarboxylase (DDC) gene are associated with smoking behavior in European-Americans and African-Americans. Hum Mol Genet 15:2192-2199
66. Zhang H, Luo X, Kranzler HR, Lappalainen J, Yang BZ, Krupitsky E, Zvartau E, Gelernter J (2006b) Association between two {micro}-opioid receptor gene (OPRM1) haplotype blocks and drug or alcohol dependence. Hum Mol Genet 15:807-819
67. Zhang H, Ye Y, Wang X, Gelernter J, Ma JZ, Li MD (2006a) DOPA decarboxylase gene is associated with nicotine dependence. Pharmacogenomics 7:1159-1166