CHRM2 gene predisposes to alcohol dependence, drug dependence and affective disorders: Results from an extended case-control structured association study

Human Molecular Genetics

Volumn 14, Issue 16, 2005, Pages 2421-2434

  Luo, Xingguang ^a,b   Kranzler, Henry R ^c   Zuo, Lingjun ^a,b   Wang, Shuang ^d   Blumberg, Hilary P ^a,b   Gelernter, Joel ^a,b  

^a YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b VA CONNECTICUT HEALTHCARE SYSTEM   (United States)

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

^d Columbia University ^*  (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MUSCARINIC M2 RECEPTOR;

5' UNTRANSLATED REGION; ADULT; AFRICAN AMERICAN; ALCOHOLISM; ALLELE; ARTICLE; CASE CONTROL STUDY; CONTROLLED STUDY; DRUG DEPENDENCE; EUROPEAN AMERICAN; FEMALE; GENE INTERACTION; GENE LINKAGE DISEQUILIBRIUM; GENETIC ASSOCIATION; GENETIC LINKAGE; GENETIC PREDISPOSITION; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; MOOD DISORDER; PHENOTYPE; PRIORITY JOURNAL; REGRESSION ANALYSIS; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; ALCOHOLISM; CASE-CONTROL STUDIES; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HAPLOTYPES; HUMANS; MALE; MOOD DISORDERS; RECEPTOR, MUSCARINIC M2; SUBSTANCE-RELATED DISORDERS; VARIATION (GENETICS);

HINRICHS;

EID: 26444559170     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddi244     Document Type: Article

References (79)

1. Fenech, A.G., Billington, C.K., Swan, C., Richards, S., Hunter, T., Ebejer, M.J., Felice, A.E., Ellul-Micallef, R. and Hall, I.P. (2004) Novel polymorphisms influencing transcription of the human [i#CHRM2#1i] gene in airway smooth muscle. [i#Am. J. Respir. Cell Mol. Biol.#1i], [b#30#1b], 678-686.
2. Mash, D.C., Flynn, D.D. and Potter, L.T. (1985) Loss of M2 muscarine receptors in the cerebral cortex in Alzheimer's disease and experimental cholinergic denervation. [i#Science#1i], [b#228#1b], 1115-1117.
3. Zhou, C., Fryer, A.D. and Jacoby, D.B. (2001) Structure of the human M(2) muscarinic acetylcholine receptor gene and its promoter. [i#Gene#1i] [b#271#1b], 87-92.
4. Baxter, M.G. and Chiba, A.A. (1999) Cognitive functions of the basal forebrain. [i#Curr. Opin. Neurobiol.#1i], [b#9#1b], 178-183.
5. Everitt, B.J. and Robbins, T.W. (1997) Central cholinergic systems and cognition. (Review). [i#Annu. Rev. Psychol.#1i], [b#48#1b], 649-684.
6. Calabresi, P., Centonze, D., Gubellini, P., Pisani, A. and Bernardi, G. (1998) Blockade of M2-like muscarinic receptors enhances long-term potentiation at corticostriatal synapses. [i#Eur. J. Neurosci.#1i], [b#10#1b] 3020-3023.
7. Jones, K.A., Porjesz, B., Almasy, L., Bierut, L.J., Goate, A., Wang, J.C., Hinrichs, T., Kwon, J., Rice, J.P., Rohrbaugh, J. [i#et al.#1i] (2004) Linkage and linkage disequilibrium of evoked EEG oscillations with CHRM2 receptor gene polymorphisms: Implications for human brain dynamics and cognition. [i#Int. J. Psychophysiol.#1i], [b#53#1b], 75-90.
8. Lai, M.K., Lai, O.F., Keene, J., Esiri, M.M., Francis, P.T., Hope, T. and Chen, C.P. (2001) Psychosis of Alzheimer's disease is associated with elevated muscarinic M2 binding in the cortex. [i#Neurology#1i], [b#57#1b], 805-811.
9. Gentles, A.J. and Karlin, S. (1999) Why are human G-protein coupled receptors predominantly intronless? [i#Trends Genet.#1i], [b#15#1b], 147-149.
10. Liu, J., Conklin, B.R., Blin, N., Yun, J. and Wess, J. (1995) Identification of a receptor/G-protein contact site critical for signaling specificity and G-protein activation. [i#Proc. Natl Acad. Sci. USA#1i], [b#92#1b], 11642-11646.
11. Vogel, W.K., Sheehan, D.M. and Schimerlik, M.I. (1997) Site-directed mutagenesis on the m2 muscarinic acetylcholine receptor: The significance of Tyr403 in the binding of agonists and functional coupling. [i#Mol. Pharmacol.#1i], [b#52#1b], 1087-1094.
12. Comings, D.E., Wu, S., Rostamkhani, M., McGue, M., Iacono, W.G. and MacMurray, J.P. (2002) Association of the muscarinic cholinergic 2 receptor (CHRM2) gene with major depression in women. [i#Am. J. Med. Genet.#1i], [b#114#1b], 527-529.
13. Comings, D.E., Wu, S., Rostamkhani, M., McGue, M., Lacono, W.G., Cheng, L.S. and MacMurray, J.P. (2003). Role of the cholinergic muscarinic 2 receptor (CHRM2) gene in cognition. [i#Mol. Psychiatry#1i], [b#8#1b], 10-11.
14. Simon, S.L., Domier, C.P., Sim, T., Richardson, K., Rawson, R.A. and Ling, W. (2002) Cognitive performance of current methamphetamine and cocaine abusers. [i#J. Addict. Dis.#1i], [b#21#1b], 61-74.
15. Regier, D.A., Farmer, M.E., Rae, D.S., Locke, B.Z., Keith, S.J., Judd, L.L. and Goodwin, F.K. (1990) Comorbidity of mental disorders with alcohol and other drug abuse. [i#J. Am. Med. Assoc.#1i], [b#264#1b], 2511-2518.
16. Kessler, R.C., Nelson, C.B., McGonagle, K.A., Edlund, M.J., Frank, R.G. and Leaf, P.J. (1996) The epidemiology of co-occurring addictive and mental disorders: Implications for prevention and service utilization. [i#Am. J. Orthopsychiatry#1i], [b#66#1b], 17-31.
17. Grant, B.F., Stinson, F.S., Hasin, D.S., Dawson, D.A., Chou, S.P., Dufour, M.C., Compton, W., Pickering, R.P. and Kaplan, K. (2004) Prevalence and co-occurrence of substance use disorders and independent mood and anxiety disorders: Results from the National Epidemiologic Survey on Alcohol and Related Conditions. [i#Arch. Gen. Psychiatry#1i], [b#61#1b], 807-816.
18. Hoehe, M.R., Kopke, K., Wendel, B., Rohde, K., Flachmeier, C., Kidd, K.K., Berrettini, W.H. and Church, G.M. (2000) Sequence variability and candidate gene analysis in complex disease: Association of mu opioid receptor gene variation with substance dependence. [i#Hum. Mol. Genet.#1i] [b#19#1b], 2895-2908.
19. Szeto, C.Y., Tang, N.L., Lee, D.T. and Stadlin, A. (2001) Association between mu opioid receptor gene polymorphisms and Chinese heroin addicts. [i#Neuroreport#1i], [b#6#1b], 1103-1106.
20. Schinka, J.A., Town, T., Abdullah, L., Crawford, F.C., Ordorica, P.I., Francis, E., Hughes, P., Graves, A.B., Mortimer, J.A. and Mullan, M. (2002) A functional polymorphism within the mu-opioid receptor gene and risk for abuse of alcohol and other substances. [i#Mol. Psychiatry#1i], [b#7#1b], 224-228.
21. Luo, X., Kranzler, H.R., Zhao, H. and Gelernter, J. (2003) Haplotypes at the OPRM1 locus are associated with susceptibility to substance dependence in European-Americans. [i#Am. J. Med. Genet. (Neuropsychiatric Genet).#1i], [b#120#1b], 97-108.
22. Bart, G., Kreek, M.J., Ott, J., LaForge, K.S., Proudnikov, D., Pollak, L. and Heilig, M. (2005) Increased attributable risk related to a functional mu-opioid receptor gene polymorphism in association with alcohol dependence in central Sweden. [i#Neuropsychopharmacology#1i], [b#30#1b], 417-422.
23. Franke, P., Nothen, M.M., Wang, T., Knapp, M., Lichtermann, D., Neidt, H., Sander, T., Propping, P. and Maier, W. (2000) DRD4 exon III VNTR polymorphism-susceptibility factor for heroin dependence? Results of a case-control and a family-based association approach. [i#Mol. Psychiatry#1i] [b#5#1b], 101-104.
24. Hutchison, K.E., McGeary, J., Smolen, A., Bryan, A. and Swift, R.M. (2002) The DRD4 VNTR polymorphism moderates craving after alcohol consumption. [i#Health Psychol.#1i], [b#21#1b], 139-146.
25. Gorwood, P., Batel, P., Ade's, J., Hamon, M. and Boni, C. (2000). Serotonin transporter gene polymorphisms, alcoholism, and suicidal behavior. [i#Biol. Psychiatry#1i], [b#48#1b], 259-264.
26. Nurnberger, J.I., Foroud, T., Flury, L., Su, J., Meyer, E.T., Hu, K., Crowe, R., Edenberg, H., Goate, A., Bierut, L. [i#et al.#1i] (2001) Evidence for a locus on chromosome 1 that influences vulnerability to alcoholism and affective disorder. [i#Am. J. Psychiatry#1i], [b#158#1b], 718-724.
27. Huang, Y., Oquendo, M.A., Harkavy Friedman, J.M., Greenhill, L.L., Brodsky, B., Malone, K.M., Khait, V. and John Mann, J. (2003) Substance abuse disorder and major depression are associated with the human 5-HT1B receptor gene (HTR1B) G861C polymorphism. [i#Neuropsychopharmacology#1i], [b#28#1b], 163-169.
28. Wang, J.C., Hinrichs, A.L., Stock, H., Budde, J., Allen, R., Bertelsen, S., Kwon, J.M., Wu, W., Dick, D.M., Rice, J. [i#et al.#1i] (2004) Evidence of common and specific genetic effects: Association of the muscarinic acetylcholine receptor M2 (CHRM2) gene with alcohol dependence and major depressive syndrome. [i#Hum. Mol. Genet.#1i], [b#13#1b] 1903-1911.
29. Reich, T., Edenberg, H.J., Goate, A., Williams, J.T., Rice, J.P., Van Eerdewegh, P., Foroud, T., Hesselbrock, V., Schuckit, M.A., Bucholz, K. [i#et al.#1i] (1998) Genome-wide search for genes affecting the risk for alcohol dependence. [i#Am. J. Med. Genet.#1i], [b#81#1b], 207-221.
30. Foroud, T., Edenberg, H.J., Goate, A., Rice, J., Flury, L., Koller, D.L., Bierut, L.J., Conneally, P.M., Nurnberger, J.I., Bucholz, K.K. [i#et al.#1i] (2000) Alcoholism susceptibility loci: Confirmation studies in a replicate sample and further mapping. [i#Alcohol. Clin. Exp. Res.#1i], [b#24#1b], 933-945.
31. Wang, S. and Zhao, H. (2003) Sample size needed to detect gene-gene interactions using association designs. [i#Am. J. Epidemiol.#1i], [b#158#1b] 899-914.
32. Pritchard, J.K., Stephens, M. and Donnelly, P. (2000) Inference of population structure using multilocus genotype data. [i#Genetics#1i], [b#155#1b], 945-959.
33. Yang, B.Z., Zhao, H., Kranzler, H.R. and Gelernter, J. (2005) Practical population group assignment with selected informative markers: characteristics and properties of Bayesian clustering via STRUCTURE. [i#Genet. Epidemiol.#1i], [b#28#1b], 302-312.
34. Nyholt, D.R. (2004) A simple correction for multiple testing for single-nucleotide polymorphisms in linkage disequilibrium with each other. [i#Am. J. Hum. Genet.#1i], [b#74#1b], 765-769.
35. Feder, J.N., Gnirke, A., Thomas, W., Tsuchihashi, Z., Ruddy, D.A., Basava, A., Dormishian, F., Domingo, R., Jr, Ellis, M.C., Fullan, A. [i#et al.#1i] (1996) A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. [i#Nat. Genet.#1i], [b#13#1b], 399-408.
36. Nielsen, D.M., Ehm, M.G. and Weir, B.S. (1999) Detecting marker-disease association by testing for Hardy-Weinberg disequilibrium at a marker locus. [i#Am. J. Hum. Genet.#1i], [b#63#1b], 1531-1540.
37. Jiang, R., Dong, J., Wang, D. and Sun, F.Z. (2001) Fine-scale mapping using Hardy-Weinberg disequilibrium. [i#Ann. Hum. Genet.#1i], [b#65#1b], 207-219.
38. Hoh, J., Wille, A. and Ott, J. (2001) Trimming, weighting, and grouping SNPs in human case-control association studies. [i#Genome Res.#1i], [b#11#1b] 2115-2119.
39. Lee, W.C. (2003) Searching for disease-susceptibility loci by testing for Hardy-Weinberg disequilibrium in a gene bank of affected individuals. [i#Am. J. Epidemiol.#1i], [b#158#1b], 397-400.
40. Hao, K., Xu, X., Laird, N., Wang, X. and Xu, X. (2004) Power estimation of multiple SNP association test of case-control study and application. [i#Genet. Epidemiol.#1i], [b#26#1b], 22-30.
41. Luo, X., Kranzler, H.R., Zuo, L., Lappalainen, J., Yang, B.Z. and Gelernter, J. ADH4 gene variation is associated with alcohol dependence and drug dependence in European Americans: Results from HWD tests and case-control association studies, in revision.
42. Luo, X., Kranzler, H.R., Zuo, L., Wang, S. and Gelernter, J. Diplotype trend regression (DTR) analysis on ADH gene cluster and ALDH2 gene in alcohol and drug dependent patients, in preparation.
43. Luo, X., Kranzler, H.R., Zuo, L., Yang, B.Z., Lappalainen, J. and Gelernter, J. ADH4 gene variation is associated with alcohol dependence and drug dependence in European Americans: Results from family-controlled and population-structured association studies, in revision.
44. Zaykin, D.V., Westfall, P.H., Young, S.S., Karnoub, M.C., Wagner, M.J. and Ehm, M.G. (2002) Testing association of statistically inferred haplotypes with discrete and continuous traits in samples of unrelated individuals. [i#Hum. Hered.#1i], [b#53#1b], 79-91.
45. American Psychiatric Association. (1987) [i#Diagnostic and Statistical Manual of Mental Disorders#1i], 3rd edn. American Psychiatric Press, Washington, DC, revised.
46. Spitzer, R.L., Williams, J.B.W., Gibbon, M. and First, M.B. (1992) The structured clinical interview for DSM-III-R (SCID), I: History, rationale, and description. [i#Arch. Gen. Psychiatry#1i], [b#49#1b], 624-629.
47. Blouin, A.G., Perez, E.L. and Blouin, J.H. (1988) Computerized administration of the diagnostic interview schedule. [i#Psychiatry Res.#1i] [b#23#1b], 335-344.
48. Spitzer, R.L. and Endicott, J. (1975) [i#Schedule for Affective Disorders and Schizophrenia: Lifetime Version#1i]. New York, New York Biometrics Research Division, New York State Psychiatric Institute.
49. First, M.B., Spitzer, R.L., Gibbon, M. and Williams, J.B.W. (1995) [i#Structured Clinical Interview for DSM-IV Axis I and II Disorders (Version 2.0)#1i]. New York, NY, New York State Psychiatric Institute.
50. Stein, M.B., Schork, M.J. and Gelernter, J. (2004) A polymorphism of the β1-adrenergic receptor is associated with shyness and low extraversion. [i#Biol. Psychiatry#1i], [b#56#1b], 217-224.
51. Kaufman, J., Yang, B.Z., Douglas-Palumberi, H., Houshyar, S., Lipschitz, D., Krystal, J.H. and Gelernter, J. (2004) Social supports and serotonin transporter gene moderate depression in maltreated children. [i#Proc. Natl Acad. Sci. USA#1i], [b#101#1b], 17316-17321.
52. Shi, M.M., Myrand, S.P., Bleavins, M.R. and de la Iglesia, F.A. (1999) High throughput genotyping for the detection of a single nucleotide polymorphism in NAD(P)H quinone oxidoreductase (DT diaphorase) using TaqMan probes. [i#Mol. Pathol.#1i], [b#52#1b], 295-299.
53. Luo, X., Klempan, T.A., Lappalainen, J., Rosenheck, R.A., Charney, D.S., Erdos, J., van Kammen, D.P., Kranzler, H.R., Kennedy, J.L. and Gelernter, J. (2004) NOTCH4 gene haplotype is associated with schizophrenia in African-Americans. [i#Biol. Psychiatry#1i], [b#55#1b], 112-117.
54. Barrett, J., Fry, B., Maller, J. and Daly, J. (2005) Haploview: Analysis and visualization of LD and haplotype maps. [i#Bioinformatics#1i], [b#21#1b] 263-265.
55. Gabriel, S.B., Schaffner, S.F., Nguyen, H., Moore, J.M., Roy, J., Blumenstiel, B., Higgins, J., DeFelice, M., Lochner, A., Faggart, M. [i#et al.#1i] (2002) The structure of haplotype blocks in the human genome. [i#Science#1i], [b#296#1b], 2225-2229.
56. Liu, K. and Muse, S. PowerMarker: New genetic data analysis software. Version 3.0. Free program distributed by the author over the internet from http://www.powermarker.net (1 October 2004).
57. Devlin, B. and Risch, N. (1995) A comparison of linkage disequilibrium measures for fine-scale mapping. [i#Genomics#1i], [b#29#1b], 311-322.
58. Levin, M.L. and Bertell, R. (1978) Re: Simple estimation of population attributable risk from case-control studies. [i#Am. J. Epidemiol.#1i], [b#108#1b], 78-79.
59. Parra, E.J., Marcini, A., Akey, J., Martinson, J., Batzer, M.A., Cooper, R., Forrester, T., Allison, D.B., Deka, R., Ferrell, R.E. and Shriver, M.D. (1998) Estimating African American admixture proportions by use of population-specific alleles. [i#Am. J. Hum. Genet.#1i], [b#63#1b], 1839-1851.
60. Hoggart, C.J., Parra, E.J., Shriver, M.D., Bonilla, C., Kittles, R.A., Clayton, D.G. and McKeigue, P.M. (2003) Control of confounding of genetic associations in stratified populations. [i#Am. J. Hum. Genet.#1i] [b#72#1b], 1492-1504.
61. Shriver, M.D., Parra, E.J., Dios, S., Bonilla, C., Norton, H., Jovel, C., Pfaff C., Jones, C., Massac, A., Cameron, N. [i#et al.#1i] (2003) Skin pigmentation, biogeographical ancestry and admixture mapping. [i#Hum. Genet.#1i], [b#112#1b], 387-399.
62. Collins-Schramm, H.E., Chima, B., Morii, T., Wah, K., Figueroa, Y., Criswell, L.A., Hanson, R.L., Knowler, W.C., Silva, G., Belmont, J.W. and Seldin, M.F. (2004) Mexican American ancestry-informative markers: examination of population structure and marker characteristics in European Americans, Mexican Americans, Amerindians and Asians. [i#Hum. Genet.#1i], [b#114#1b], 263-271.
63. Gelman, A., Carlin, J.B., Stern, H.S. and Rubin, D.B. (2003) [i#Bayesian Data Analysis#1i], 2nd edn. Chapman & Hall/CRC, Boca Raton, FL.
64. Falush, D., Stephens, M. and Pritchard, J.K. (2003) Inference of population structure using multilocus genotype data: Linked loci and correlated allele frequencies. [i#Genetics#1i], [b#164#1b], 1567-1587.
65. Pritchard, J.K., Stephens, M., Rosenberg, N.A. and Donnelly, P. (2000) Association mapping in structured populations. [i#Am. J. Hum. Genet.#1i], [b#67#1b], 170-181.
66. Stephens, M. and Donnelly, P. (2003) A comparison of bayesian methods for haplotype reconstruction from population genotype data. [i#Am. J. Hum. Genet.#1i], [b#73#1b], 1162-1169.
67. Stephens, M., Smith, N.J. and Donnelly, P. (2001) A new statistical method for haplotype reconstruction from population data. [i#Am. J. Hum. Genet.#1i], [b#68#1b], 978-989.
68. Niu, T., Qin, Z.D. Xu, X. and Liu, J.S. (2002) Bayesian haplotype inference for multiple linked single-nucleotide polymorphisms. [i#Am. J. Hum. Genet.#1i], [b#70#1b], 157-169.
69. Eaves, L.J. (1984) The resolution of genotype x environment interaction in segregation analysis of nuclear families. [i#Genet. Epidemiol.#1i], [b#1#1b], 215-228.
70. Ottman, R. (1990) An epidemiologic approach to gene-environment interaction. [i#Genet. Epidemiol.#1i], [b#11#1b], 75-86.
71. Tiret, L., Abel, L. and Rakotovao, R. (1993) Effect of ignoring genotype-environment interaction on segregation analysis of quantitative traits. [i#Genet. Epidemiol.#1i], [b#10#1b], 581-586.
72. Zetterberg, H., Zafiropoulos, A., Spandidos, D.A., Rymo, L. and Blennow, K. (2003) Gene-gene interaction between fetal MTHFR 677C>T and transcobalamin 776C>G polymorphisms in human spontaneous abortion. [i#Hum. Reprod.#1i], [b#18#1b], 1948-1950.
73. Costea, I., Moghrabia, A. and Krajinovica, M. (2003) The influence of cyclin D1 (CCND1) 870A>G polymorphism and CCND1-thymidylate synthase (TS) gene-gene interaction on the outcome of childhood acute lymphoblastic leukaemia. [i#Pharmacogenetics#1i], [b#13#1b], 577-580.
74. Infante, J., Sanz, C., Fernández-Luna, J.L., Llorca, J., Berciano, J. and Combarros, O. (2004) Gene-gene interaction between interleukin-6 and interleukin-10 reduces AD risk. [i#Neurology#1i], [b#63#1b], 1135-1136.
75. Gauderman, W.J. and Faucett, C.L. (1997) Detection of gene-environment interactions in joint segregation and linkage analysis. [i#Am. J. Hum. Genet.#1i], [b#61#1b], 1189-1199.
76. Breiman, L., Friedman, J.H., Olshen, R.A. and Stone, C.J. (1984) [i#Classification and Regression Trees#1i]. Wadsworth, Belmont, CA.
77. Friedman, J.H. (1991) Multivariate adaptive regression splines. [i#Ann. Stat.#1i], [b#19#1b], 1-66.
78. Cook, N.R., Zee, R.Y.L. and Ridker, P.M. (2004) Tree and spline based association analysis of gene-gene interaction models for ischemic stroke. [i#Stat. Med.#1i], [b#23#1b], 1439-1453.
79. Abecasis, G.R. and Cookson, W.O. (2000) GOLD - graphical overview of linkage disequilibrium. [i#Bioinformatics#1i], [b#16#1b], 182-183.