A genetic schizophrenia-susceptibility region located between the ANKK1 and DRD2 genes

Progress in Neuro-Psychopharmacology and Biological Psychiatry

Volumn 34, Issue 3, 2010, Pages 492-499

  Dubertret, Caroline ^a,b,c   Bardel, Claire ^d,e,f   Ramoz, Nicolas ^a   Martin, Pierre Marie ^a   Deybach, Jean Charles ^c,g   Adès, Jean ^b,c   Gorwood, Philip ^a,b   Gouya, Laurent ^g,h,i  

^a CENTRE DE PSYCHIATRIE ET NEUROSCIENCES   (France)

^b HÔPITAL LOUIS MOURIER   (France)

^c UNIVERSITÉ PARIS DESCARTES   (France)

^d UNIVERSITÉ DE LYON   (France)

^e UNIVERSITÉ LYON 1   (France)

^f INSERM   (France)

^g CENTRE DE RECHERCHE BIOMÉDICALE BICHAT BEAUJON CRB3   (France)

^h LABORATOIRE DES SCIENCES DU CLIMAT ET DE L ENVIRONNEMENT   (France)

ⁱ HÔPITAL AMBROISE PARÉ   (France)

Author keywords

ANKK1; DRD2; Genetic study; Phylogeny; Schizophrenia

Indexed keywords

ANKYRIN REPEAT AND KINASE DOMAIN CONTAINING 1 PROTEIN; ATYPICAL ANTIPSYCHOTIC AGENT; DOPAMINE 2 RECEPTOR; NEUROLEPTIC AGENT; UNCLASSIFIED DRUG;

ADULT; ARTICLE; BEHAVIOR GENETICS; CASE CONTROL STUDY; CHIMPANZEE; CONTROLLED STUDY; FAMILY; FEMALE; GENE LINKAGE DISEQUILIBRIUM; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; HUMAN; MACACA; MAJOR CLINICAL STUDY; MALE; MOLECULAR PHYLOGENY; NONHUMAN; ORANG UTAN; SCHIZOPHRENIA; SINGLE NUCLEOTIDE POLYMORPHISM; SPECIES COMPARISON;

AGE FACTORS; ANIMALS; CASE-CONTROL STUDIES; CHI-SQUARE DISTRIBUTION; EVOLUTION, MOLECULAR; FAMILY HEALTH; FEMALE; FRANCE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; GENOTYPE; HUMANS; MACACA MULATTA; MALE; PAN TROGLODYTES; POLYMORPHISM, SINGLE NUCLEOTIDE; PONGO; PROTEIN-SERINE-THREONINE KINASES; RECEPTORS, DOPAMINE D2; SCHIZOPHRENIA;

EID: 77949658099     PISSN: 02785846     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.pnpbp.2010.02.003     Document Type: Article

References (39)

1. Allen N.C, Bagade S., McQueen M.B., Zea-Ponceb Y., Gil R., Kegeles L.S., et al. Systematic meta-analyses and field synopsis of genetic association studies in schizophrenia: the SzGene database. Nat Genet 2008, 40:827-834.
2. Andreasen N.C., Endicott J., Spitzer R.L., Winokur G. The family history method using diagnostic criteria: reliability and validity. Arch Gen Psychiatry 1977, 34:1229-1232.
3. Bardel C., Danjean V., Hugot J.P., Darlu P., Génin E. On the use of haplotype phylogeny to detect disease susceptibility loci. BMC Gen 2005, 6:24.
4. Bardel C., Danjean V., Génin E. ALTree: association detection and localization of susceptibility sites using haplotype phylogenetic trees. Bioinformatics 2006, 22:1402-1403.
5. Barrett J.C., Fry B., Maller J., Daly M.J. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 2005, 21:263-265.
6. Becker T., Knapp M. Maximum-likelihood estimation of haplotype frequencies in nuclear families. Gen Epidemiol 2004, 27:21-32.
7. Betcheva E.T., Mushiroda T., Takahashi A., Kubo M., Karachanak S.K., Zaharieva I.T., et al. Case-control association study of 59 candidate genes reveals the DRD2 SNP rs6277 (C957T) as the only susceptibility factor for schizophrenia in the Bulgarian population. J Hum Genet 2009, 54:98-107.
8. Crow T.J. The 'big bang' theory of the origin of psychosis and the faculty of language. Schizophr Res 2008, 102:31-52.
9. Doehring A., Hentig N., Graff J., Salamat S., Schmidt M., Geisslinger G., et al. Genetic variants altering dopamine D2 receptor expression or function modulate the risk of opiate addiction and the dosage requirements of methadone substitution. Pharmacogenet Genomics 2009, 19:407-414.
10. Duan J., Wainwright M.S., Comeron J.M., Comeron J.M., Saitou N., Sanders A.R., et al. Synonymous mutations in the human dopamine receptor D2 (DRD2) affect mRNA stability and synthesis of the receptor. Hum Mol Gen 2003, 12:205-216.
11. Dubertret C., Gouya L., Hanoun N., Deybach J.C., Ades J. The 3′ region of the DRD2 gene is involved in genetic susceptibility to schizophrenia. Schizophr Res 2004, 67:75-85.
12. Dupont W.D., Plummer W.D. PS power and sample size program available for free on the Internet. Control Clin Trials 1997, 18:274.
13. Fan H, Zhang F, Xu Y, Huang X, Sun G, Song Y, Long H, Liu P. An association study of DRD2 gene polymorphisms with schizophrenia in a Chinese Han population. Neurosci Lett 2009, in press.
14. Gelernter J., Yu Y., Weiss R., Brady K., et al. 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 2006, 15:3498-3507.
15. Glatt S.J., Faraone S.V., Lasky-Su J.A., Kanazawa T., Hwu H.G., Tsuang M.T. Family-based association testing strongly implicates DRD2 as a risk gene for schizophrenia in Han Chinese from Taiwan. Mol Psychiatry 2009, 14:885-893.
16. Hänninen K., Katila H., Kampman O., Anttila S., Illi A., Rontu R., et al. Association between the R C957T polymorphism of the dopamine D2 receptor gene and schizophrenia. Neurosci Lett 2006, 407:195-198.
17. Hirvonen M., Laakso A., Någren K., Rinne J.O., Pohjalainen T., Hietala J. C957T polymorphism of the dopamine D2 receptor (DRD2) gene affects striatal DRD2 availability in vivo. Mol Psychiatry 2004, 9:1060-1061.
18. Hirvonen M.M., Laakso A., Någren K., Rinne J.O., Pohjalainen T., Hietala J. C957T polymorphism of dopamine D2 receptor gene affects striatal DRD2 in vivo availability by changing the receptor affinity. Synapse 2009, 63:907-912.
19. Hoenicka J., Aragüés M., Rodríguez-Jiménez R., Ponce G., Martínez I., Rubio G., et al. C957T DRD2 polymorphism is associated with schizophrenia in Spanish patients. Acta Psychiatr Scand 2006, 114:435-438.
20. Hoenicka J., Quiñones-Lombraña A., España-Serrano L., Alvira-Botero X., Kremer L., Pérez-González R., Rodríguez-Jiménez R., Jiménez-Arriero M.A., Ponce G., Palomo T. The ANKK1 gene associated with addictions is expressed in astroglial cells and upregulated by apomorphine. Biol Psychiatry 2010, 67:3-11.
21. Horvath S., Xu X., Laird N.M. The family based association test method: strategies for studying general genotype-phenotype associations. Eur J Hum Genet 2001, 9:301-306.
22. Huang W., Payne T.J., Ma J.Z., Beuten J., Dupont R.T., Inohara N., et al. Significant association of ANKK1 and detection of a functional polymorphism with nicotine dependence in an African-American sample. Neuropsychopharmacology 2009, 34:319-330.
23. Kraschewski A., Reese J., Anghelescu I., Winterer G., Schmidt L.G., Gallinat J., et al. Association of the dopamine D2 receptor gene with alcohol dependence: haplotypes and subgroups of alcoholics as key factors for understanding receptor function. Pharmacogenetics Genomics 2009, 19:513-527.
24. Kukreti R., Tripathi S., Bhatnagar P., Gupta S., Chauhan C., Kubendran S., et al. Association of DRD2 gene variant with schizophrenia. Neurosci Lett 2006, 392:68-71.
25. Lawford B.R., Young R.M., Swagell C.D., Barnes M., Burton S.C., Ward W.K., et al. The C/C genotype of the C957T polymorphism of the dopamine D2 receptor is associated with schizophrenia. Schizophr Res 2005, 73:31-37.
26. May P.R., Dencker S.J., Hubbard J.W., Midha K.K., Liberman R.P. A systematic approach to treatment resistance in schizophrenic disorders. Treatment resistance in schizophrenia 1988, Vieweg Verlag, Wiesbaden. S. Dencker, F. Kulhanel (Eds.).
27. Monakhov M., Golimbet V., Abramova L., Kaleda V., Karpov V. Association study of three polymorphisms in the dopamine D2 receptor gene and schizophrenia in the Russian population. Schizophr Res 2008, 100:302-307.
28. Nei M., Gojobori T. Simple methods for estimating the numbers of synonymous and non-synonymous nucleotide substitutions. Mol Biol Evol 1986, 3:418-426.
29. Noble E.P. D2 dopamine receptor gene in psychiatric and neurologic disorders and its phenotypes. Am J Med Genet B Neuropsychiatr Genet 2002, 116:103-125.
30. Nurnberger J.I., Blehar M.C., Kaufmann C.A., York-Coole C., Simpson S.G., Harkavy-Friedman J., et al. From the NIMH. Genetics initiative diagnostic interview for genetic studies rationale, unique features, and training. Arch Gen Psychiatry 1994, 51:849-859.
31. Purcell S., Cherny S.S., Sham P.C. Genetic power calculator: design of linkage and association genetic mapping studies of complex traits. Bioinformatics 2003, 19:149-150.
32. Rozas J., Sánchez-DelBarrio J.C., Messeguer X., Rozas R. DnaSP, DNA polymorphism analyses by the coalescent and other methods. Bioinformatics 2003, 19:2496-2497.
33. Schierup M.H., Hein J. Consequences of recombination on traditional phylogenetic analysis. Genetics 2000, 156:879-891.
34. Seltman H., Roeder K., Devlin B. Evolutionary-based association analysis using haplotype data. Genet Epidemiol 2003, 25:48-58.
35. Stephens M., Smith N.J., Donnelly P. A new statistical method for haplotype reconstruction from population data. Am J Hum Genet 2001, 68:978-989.
36. Sullivan P.F., Kendler K.S., Neale M.C. Schizophrenia as a complex trait: evidence from a meta-analysis of twin studies. Arch Gen Psychiatry 2003, 60:1187-1192.
37. Swofford D.L. PAUP: phylogenetic analysis using parsimony. (and other methods), version 4.b10 2002, Sinauer Associates, Sunderland, Massachusetts.
38. Templeton A.R. Haplotype trees and modern human origins. Am J Phy Anthropol 2005, 41:33-59. Suppl.
39. Yang B.Z., Kranzler H.R., Zhao H., Gruen J.R., Luo X., Gelernter J. Association of haplotypic variants in DRD2, ANKK1, TTC12 and NCAM1 to alcohol dependence in independent case control and family samples. Hum Mol Genet 2007, 16:2844-2853.