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

Journal of Human Genetics

Volumn 54, Issue 2, 2009, Pages 98-107

  Betcheva, Elitza T ^a   Mushiroda, Taisei ^a   Takahashi, Atsushi ^a   Kubo, Michiaki ^a   Karachanak, Sena K ^b   Zaharieva, Irina T ^b   Vazharova, Radoslava V ^b   Dimova, Ivanka I ^b   Milanova, Vihra K ^b   Tolev, Todor ^c   Kirov, George ^d   Owen, Michael J ^d   O'Donovan, Michael C ^d   Kamatani, Naoyuki ^a   Nakamura, Yusuke ^a,e   Toncheva, Draga I ^b  

^a INST OF PHYS AND CHEMICAL RESEARCH   (Japan)

^b MEDICAL UNIVERSITY OF SOFIA   (Bulgaria)

^c Dr Georgi Kisiov Hospital   (Bulgaria)

^d CARDIFF UNIVERSITY   (United Kingdom)

^e UNIVERSITY OF TOKYO   (Japan)

Author keywords

Bulgarian population; Case control study; DRD2; Schizophrenia; SNP

Indexed keywords

ADULT; AGED; ARTICLE; CONTROLLED STUDY; DISEASE PREDISPOSITION; DNA EXTRACTION; DRD2 GENE; FEMALE; GENE; GENETIC VARIABILITY; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; SCHIZOAFFECTIVE PSYCHOSIS; SCHIZOPHRENIA; SINGLE NUCLEOTIDE POLYMORPHISM; BULGARIA; CASE CONTROL STUDY; CAUCASIAN; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETICS; MIDDLE AGED; VERY ELDERLY;

DOPAMINE 2 RECEPTOR;

ADULT; AGED; AGED, 80 AND OVER; BULGARIA; CASE-CONTROL STUDIES; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HUMANS; MALE; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTORS, DOPAMINE D2; SCHIZOPHRENIA;

EID: 60749112924     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1038/jhg.2008.14     Document Type: Article

References (38)

1. Owen, M. J., Williams, N. M. & O'Donovan, M. C. The molecular genetics of schizophrenia: new findings promise new insights. Mol. Psychiatry 9, 14-27 (2004).
2. Lang, U. E., Puls, I., Muller, D. J., Strutz-Seebohm, N. & Gallinat, J. Molecular mechanisms of schizophrenia. Cell. Physiol. Biochem. 20, 687-702 (2007).
3. Lake, C. R. & Hurwitz, N. Schizoaffective disorders are psychotic mood disorders; there are no schizoaffective disorders. Psychiatry Res. 143, 255-287 (2006).
4. Sullivan, P. F. The genetics of schizophrenia. PLoS Med. 2, e212 (2005).
5. Riley, B. & Kendler, K. S. Molecular genetic studies of schizophrenia. Eur. J. Hum. Genet. 14, 669-680 (2006).
6. Harrison, P. J. & Owen, M. J. Genes for schizophrenia? Recent findings and their pathophysiological implications. Lancet 361, 417-419 (2003).
7. Costas, J., Torres, M., Cristobo, I., Phillips, C. & Carracedo, A. Relative efficiency of the linkage disequilibrium mapping approach in detecting candidate genes for schizophrenia in different European populations. Genomics 86, 280-286 (2005).
8. Rapoport, J. L., Addington, A. M., Frangou, S. & Psych, M. R. The neurodevelopmental model of schizophrenia: update 2005. Mol. Psychiatry 10, 434-449 (2005).
9. Moises, H. W., Zoega, T. & Gottesman, I. I. The glial growth factors deficiency and synaptic destabilization hypothesis of schizophrenia. BMC Psychiatry 2, 8 (2002).
10. Thome, J., Foley, P. & Riederer, P. Neurotrophic factors and the maldevelopmental hypothesis of schizophrenic psychoses. Review article. J. Neural. Transm. 105, 85-100 (1998).
11. Seeman, P., Guan, H. C., Nobrega, J., Jiwa, D., Markstein, R., Balk, J. H. et al. Dopamine D2-like sites in schizophrenia, but not in Alzheimer's, Huntington's, or control brains, for [3H]benzquinoline. Synapse 25, 137-146 (1997).
12. Talkowski, M. E., Seltman, H., Bassett, A. S., Brzustowicz, L. M., Chen, X., Chowdari, K. V. et al. Evaluation of a susceptibility gene for schizophrenia: genotype based metaanalysis of RGS4 polymorphisms from thirteen independent samples. Biol. Psychiatry 60, 152-162 (2006).
13. Glatt, S. J., Wang, R. S., Yeh, Y. C., Tsuang, M. T. & Faraone, S. V. Five NOTCH4 polymorphisms show weak evidence for association with schizophrenia: evidence from meta-analyses. Schizophr. Res. 73, 281-290 (2005).
14. Ohnishi, Y., Tanaka, T, Ozaki, K, Yamada, R, Suzuki, H & Nakamura, Y. A highthroughput SNP typing system for genome-wide association studies. J. Hum. Genet. 46, 471-477 (2001).
15. Hanninen, K., Katila, H., Kampman, O., Anttila, S., Illi, A., Rontu, R. et al. Association between the C957T polymorphism of the dopamine D2 receptor gene and schizophrenia. Neurosci. Lett. 407, 195-198 (2006).
16. 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. 114, 435-738 (2006).
17. 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. 73, 31-37 (2005).
18. 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. 100, 302-307 (2008).
19. Seeman, P. & Kapur, S. Schizophrenia: more dopamine, more D2 receptors. Proc. Natl Acad. Sci. USA 97, 7673-7675 (2000).
20. Zakzanis, K. K. & Hansen, K. T. Dopamine D2 densities and the schizophrenic brain. Schizophr. Res. 32, 201-206 (1998).
21. Miyamoto, S., Snouwaert, J. N., Koller, B. H., Moy, S. S., Lieberman, J. A., Duncan, G. E. et al. Amphetamine-induced Fos is reduced in limbic cortical regions but not in the caudate or accumbens in a genetic model of NMDA receptor hypofunction. Neuropsychopharmacology 29, 2180-2188 (2004).
22. Cravchik, A., Sibley, D. R. & Gejman, P. V. Functional analysis of the human D2 dopamine receptor missense variants. J. Biol. Chem. 271, 26013-26017 (1996).
23. Duan, J., Wainwright, M. S., Comeron, J. M., Saitou, N., Sanders, A. R., Gelernter, J. et al. Synonymous mutations in the human dopamine receptor D2 (DRD2) affect mRNA stability and synthesis of the receptor. Hum. Mol. Genet. 12, 205-216 (2003).
24. Seeman, P. & Van Tol, H. H. Dopamine receptor pharmacology. Trends Pharmacol. Sci. 15, 264-270 (1994).
25. Sibley, D. R. & Monsma, F. J. Jr Molecular biology of dopamine receptors. Trends Pharmacol. Sci. 13, 61-69 (1992).
26. Neville, M. J., Johnstone, E. C. & Walton, R. T. Identification and characterization of ANKK1: a novel kinase gene closely linked to DRD2 on chromosome band 11q23.1. Hum. Mutat. 23, 540-545 (2004).
27. Usiello, A., Baik, J. H., Rougé-Pont, F., Picetti, R., Dierich, A., LeMeur, M. et al. Distinct functions of the two isoforms of dopamine D2 receptors. Nature 408, 199-203 (2000).
28. Dubertret, C., Gouya, L., Hanoun, N., Deybach, J. C., Adès, J., Hamon, M. et al. The 3′ region of the DRD2 gene is involved in genetic susceptibility to schizophrenia. Schizophr. Res. 67, 75-85 (2004).
29. Suzuki, A., Kondo, T., Mihara, K., Furukori, H., Nagashima, U., Ono, S. et al. Association between Taq1 a dopamine D2 receptor polymorphism and psychopathology of schizophrenia in Japanese patients. Prog. Neuropsychopharmacol. Biol. Psychiatry 24, 1105-1113 (2000).
30. Itokawa, M., Arinami, T., Futamura, N., Hamaguchi, H. & Toru, M. A structural polymorphism of human dopamine D2 receptor, D2(Ser311-Cys). Biochem. Biophys. Res. Commun. 196, 1369-1375 (1993).
31. Arinami, T., Itokawa, M., Enguchi, H., Tagaya, H., Yano, S., Shimizu, H. et al. Association of dopamine D2 receptor molecular variant with schizophrenia. Lancet 343, 703-704 (1994).
32. Glatt, S. J., Faraone, S. V. & Tsuang, M. T. Meta-analysis identifies an association between the dopamine D2 receptor gene and schizophrenia. Mol. Psychiatry 8, 911-915 (2003).
33. Glatt, S. J. & Jonsson, E. G. The Cys allele of the DRD2 Ser311Cys polymorphism has a dominant effect on risk for schizophrenia: evidence from fixed- and random-effects meta-analyses. Am. J. Med. Genet B Neuropsychiatr. Genet. 141, 149-154 (2006).
34. Arinami, T., Gao, M., Hamaguchi, H. & Toru, M. A functional polymorphism in the promoter region of the dopamine D2 receptor gene is associated with schizophrenia. Hum. Mol. Genet. 6, 577-582 (1997).
35. Glatt, S. J., Faraone, S. V. & Tsuang, M. T. DRD2 -141C insertion/deletion polymorphism is not associated with schizophrenia: results of a meta-analysis. Am. J. Med. Genet. B Neuropsychiatr. Genet. 128, 21-23 (2004).
36. Kukreti, R., Tripathi, S., Bhatnagar, P., Gupta, S., Chauhan, C., Kubendran, S. et al. Association of DRD2 gene variant with schizophrenia. Neurosci. Lett. 392, 68-71 (2006).
37. Allen, N. C., Bagade, S., McQueen, M. B., Ioannidis, J. P., Kavvoura, F. K., Khoury, M. J. et al. Systematic meta-analyses and field synopsis of genetic association studies in schizophrenia: the SzGene database. Nat. Genet. 40, 827-834 (2008).
38. 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 9, 1060-1061 (2004).