Converging evidence implicates the dopamine D3 receptor gene in vulnerability to schizophrenia

American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics

Volumn 156, Issue 5, 2011, Pages 613-619

  Zhang, Fuquan ^a,b   Fan, Hua ^c   Xu, Yong ^d   Zhang, Kerang ^d   Huang, Xuezhu ^a   Zhu, Yan ^a   Sui, Manqiu ^a   Sun, Gaoxiang ^a   Feng, Kun ^a   Xu, Bo ^a   Zhang, Xiaoqian ^a   Su, Zhonghua ^e   Peng, Chunqing ^f   Liu, Pozi ^a  

^a TSINGHUA UNIVERSITY YUQUAN HOSPITAL   (China)

^b PEKING UNIVERSITY SIXTH HOSPITAL   (China)

^c CAPITAL MEDICAL UNIVERSITY   (China)

^d SHANXI MEDICAL UNIVERSITY   (China)

^e JINING MEDICAL UNIVERSITY   (China)

^f THE FIRST AFFILIATED HOSPITAL OF UNIVERSITY OF SOUTH CHINA   (China)

Author keywords

DRD3; Positive selection; Rs6280; Schizophrenia

Indexed keywords

DOPAMINE 3 RECEPTOR; MESSENGER RNA;

ADOLESCENT; ADULT; AGED; ALLELE; ARTICLE; CODON; CONTROLLED STUDY; EUROPE; GENE FUNCTION; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; NATURAL SELECTION; PRIORITY JOURNAL; SCHIZOPHRENIA; SINGLE NUCLEOTIDE POLYMORPHISM; SOUTHEAST ASIA;

ADOLESCENT; ADULT; AGED; AMINO ACID SUBSTITUTION; BASE SEQUENCE; CHINA; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; MALE; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTORS, DOPAMINE D3; RNA, MESSENGER; SCHIZOPHRENIA; SEQUENCE ANALYSIS, DNA;

EID: 79958736823     PISSN: 15524841     EISSN: 1552485X     Source Type: Journal    
DOI: 10.1002/ajmg.b.31203     Document Type: Article

References (29)

1. Allen NC, Bagade S, McQueen MB, Ioannidis JP, Kavvoura FK, Khoury MJ, Tanzi RE, Bertram L. 2008. Systematic meta-analyses and field synopsis of genetic association studies in schizophrenia: The SzGene database. Nat Genet 40(7): 827-834.
2. Asico LD, Ladines C, Fuchs S, Accili D, Carey RM, Semeraro C, Pocchiari F, Felder RA, Eisner GM, Jose PA. 1998. Disruption of the dopamine D3 receptor gene produces renin-dependent hypertension. J Clin Invest 102(3): 493-498.
3. Bombin I, Arango C, Mayoral M, Castro-Fornieles J, Gonzalez-Pinto A, Gonzalez-Gomez C, Moreno D, Parellada M, Baeza I, Graell M, Otero S, Saiz PA, Patino-Garcia A. 2008. DRD3, but not COMT or DRD2, genotype affects executive functions in healthy and first-episode psychosis adolescents. Am J Med Genet Part B 147B(6): 873-879.
4. Carrera N, Sanjuan J, Molto MD, Carracedo A, Costas J. 2009. Recent adaptive selection at MAOB and ancestral susceptibility to schizophrenia. Am J Med Genet Part B 150B(3): 369-374.
5. Costas J, Carrera N, Dominguez E, Vilella E, Martorell L, Valero J, Gutierrez-Zotes A, Labad A, Carracedo A. 2009. A common haplotype of DRD3 affected by recent positive selection is associated with protection from schizophrenia. Hum Genet 124(6): 607-613.
6. Crocq MA, Mant R, Asherson P, Williams J, Hode Y, Mayerova A, Collier D, Lannfelt L, Sokoloff P, Schwartz JC, Gill M, Macher JP, McGuffin P, Owen MJ. 1992. Association between schizophrenia and homozygosity at the dopamine D3 receptor gene. J Med Genet 29(12): 858-860.
7. Di Rienzo A, Hudson RR. 2005. An evolutionary framework for common diseases: The ancestral-susceptibility model. Trends Genet 21(11): 596-601.
8. Dupont WD, Plummer WD. 1998. Power and sample size calculations for studies involving linear regression. Control Clin Trials 19(6): 589-601.
9. Fan H, Zhang F, Xu Y, Huang X, Sun G, Song Y, Long H, Liu P. 2010. An association study of DRD2 gene polymorphisms with schizophrenia in a Chinese Han population. Neurosci Lett 477(2): 53-56.
10. Frazer KA, Ballinger DG, Cox DR, Hinds DA, Stuve LL, Gibbs RA, Belmont JW, Boudreau A, Hardenbol P, Leal SM, Pasternak S, Wheeler DA, Willis TD, Yu F, Yang H, Zeng C, Gao Y, Hu H, Hu W, Li C, Lin W, Liu S, Pan H, Tang X, Wang J, Wang W, Yu J, Zhang B, Zhang Q, Zhao H, Zhou J, Gabriel SB, Barry R, Blumenstiel B, Camargo A, Defelice M, Faggart M, Goyette M, Gupta S, Moore J, Nguyen H, Onofrio RC, Parkin M, Roy J, Stahl E, Winchester E, Ziaugra L, Altshuler D, Shen Y, Yao Z, Huang W, Chu X, He Y, Jin L, Liu Y, Sun W, Wang H, Wang Y, Xiong X, Xu L, Waye MM, Tsui SK, Xue H, Wong JT, Galver LM, Fan JB, Gunderson K, Murray SS, Oliphant AR, Chee MS, Montpetit A, Chagnon F, Ferretti V, Leboeuf M, Olivier JF, Phillips MS, Roumy S, Sallee C, Verner A, Hudson TJ, Kwok PY, Cai D, Koboldt DC, Miller RD, Pawlikowska L, Taillon-Miller P, Xiao M, Tsui LC, Mak W, Song YQ, Tam PK, Nakamura Y, Kawaguchi T, Kitamoto T, Morizono T, Nagashima A, Ohnishi Y, Sekine A, Tanaka T, Tsunoda T, Deloukas P, Bird CP, Delgado M, Dermitzakis ET, Gwilliam R, Hunt S, Morrison J, Powell D, Stranger BE, Whittaker P, Bentley DR, Daly MJ, de Bakker PI, Barrett J, Chretien YR, Maller J, McCarroll S, Patterson N, Pe'er I, Price A, Purcell S, Richter DJ, Sabeti P, Saxena R, Schaffner SF, Sham PC, Varilly P, Stein LD, Krishnan L, Smith AV, Tello-Ruiz MK, Thorisson GA, Chakravarti A, Chen PE, Cutler DJ, Kashuk CS, Lin S, Abecasis GR, Guan W, Li Y, Munro HM, Qin ZS, Thomas DJ, McVean G, Auton A, Bottolo L, Cardin N, Eyheramendy S, Freeman C, Marchini J, Myers S, Spencer C, Stephens M, Donnelly P, Cardon LR, Clarke G, Evans DM, Morris AP, Weir BS, Mullikin JC, Sherry ST, Feolo M, Skol A, Zhang H, Matsuda I, Fukushima Y, Macer DR, Suda E, Rotimi CN, Adebamowo CA, Ajayi I, Aniagwu T, Marshall PA, Nkwodimmah C, Royal CD, Leppert MF, Dixon M, Peiffer A, Qiu R, Kent A, Kato K, Niikawa N, Adewole IF, Knoppers BM, Foster MW, Clayton EW, Watkin J, Muzny D, Nazareth L, Sodergren E, Weinstock GM, Yakub I, Birren BW, Wilson RK, Fulton LL, Rogers J, Burton J, Carter NP, Clee CM, Griffiths M, Jones MC, McLay K, Plumb RW, Ross MT, Sims SK, Willey DL, Chen Z, Han H, Kang L, Godbout M, Wallenburg JC, L'Archeveque P, Bellemare G, Saeki K, An D, Fu H, Li Q, Wang Z, Wang R, Holden AL, Brooks LD, McEwen JE, Guyer MS, Wang VO, Peterson JL, Shi M, Spiegel J, Sung LM, Zacharia LF, Collins FS, Kennedy K, Jamieson R, Stewart J. 2007. A second generation human haplotype map of over 3.1 million SNPs. Nature 449(7164): 851-861.
11. Gurevich EV, Bordelon Y, Shapiro RM, Arnold SE, Gur RE, Joyce JN. 1997. Mesolimbic dopamine D3 receptors and use of antipsychotics in patients with schizophrenia. A postmortem study. Arch Gen Psychiatry 54(3): 225-232.
12. Ilani T, Ben-Shachar D, Strous RD, Mazor M, Sheinkman A, Kotler M, Fuchs S. 2001. A peripheral marker for schizophrenia: Increased levels of D3 dopamine receptor mRNA in blood lymphocytes. Proc Natl Acad Sci USA 98(2): 625-628.
13. Ishiguro H, Okuyama Y, Toru M, Arinami T. 2000. Mutation and association analysis of the 5' region of the dopamine D3 receptor gene in schizophrenia patients: Identification of the Ala38Thr polymorphism and suggested association between DRD3 haplotypes and schizophrenia. Mol Psychiatry 5(4): 433-438.
14. Iwamoto K, Kato T. 2006. Gene expression profiling in schizophrenia and related mental disorders. Neuroscientist 12(4): 349-361.
15. Jeanneteau F, Funalot B, Jankovic J, Deng H, Lagarde JP, Lucotte G, Sokoloff P. 2006. A functional variant of the dopamine D3 receptor is associated with risk and age-at-onset of essential tremor. Proc Natl Acad Sci USA 103(28): 10753-10758.
16. Kaneko N, Muratake T, Kuwabara H, Kurosaki T, Takei M, Ohtsuki T, Arinami T, Tsuji S, Someya T. 2007. Autosomal linkage analysis of a Japanese single multiplex schizophrenia pedigree reveals two candidate loci on chromosomes 4q and 3q. Am J Med Genet Part B 144B(6): 735-742.
17. Kennedy JL, Billett EA, Macciardi FM, Verga M, Parsons TJ, Meltzer HY, Lieberman J, Buchanan JA. 1995. Association study of dopamine D3 receptor gene and schizophrenia. Am J Med Genet 60(6): 558-562.
18. Laszy J, Laszlovszky I, Gyertyan I. 2005. Dopamine D3 receptor antagonists improve the learning performance in memory-impaired rats. Psychopharmacology (Berl) 179(3): 567-575.
19. Lo WS, Xu Z, Yu Z, Pun FW, Ng SK, Chen J, Tong KL, Zhao C, Xu X, Tsang SY, Harano M, Stober G, Nimgaonkar VL, Xue H. 2007. Positive selection within the schizophrenia-associated GABA(A) receptor beta2 gene. PLoS ONE 2(5): e462.
20. Lundstrom K, Turpin MP. 1996. Proposed schizophrenia-related gene polymorphism: Expression of the Ser9Gly mutant human dopamine D3 receptor with the Semliki Forest virus system. Biochem Biophys Res Commun 225(3): 1068-1072.
21. Ma G, He Z, Fang W, Tang W, Huang K, Li Z, He G, Xu Y, Feng G, Zheng T, Zhou J, He L, Shi Y. 2008. The Ser9Gly polymorphism of the dopamine D3 receptor gene and risk of schizophrenia: An association study and a large meta-analysis. Schizophr Res 101(1-3): 26-35.
22. Meador-Woodruff JH, Haroutunian V, Powchik P, Davidson M, Davis KL, Watson SJ. 1997. Dopamine receptor transcript expression in striatum and prefrontal and occipital cortex. Focal abnormalities in orbitofrontal cortex in schizophrenia. Arch Gen Psychiatry 54(12): 1089-1095.
23. Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, Bender D, Maller J, Sklar P, de Bakker PI, Daly MJ, Sham PC. 2007. PLINK: A tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 81(3): 559-575.
24. Sabeti PC, Reich DE, Higgins JM, Levine HZ, Richter DJ, Schaffner SF, Gabriel SB, Platko JV, Patterson NJ, McDonald GJ, Ackerman HC, Campbell SJ, Altshuler D, Cooper R, Kwiatkowski D, Ward R, Lander ES. 2002. Detecting recent positive selection in the human genome from haplotype structure. Nature 419(6909): 832-837.
25. Sabeti PC, Varilly P, Fry B, Lohmueller J, Hostetter E, Cotsapas C, Xie X, Byrne EH, McCarroll SA, Gaudet R, Schaffner SF, Lander ES, International HapMap Consortium, Frazer KA, Ballinger DG, Cox DR, Hinds DA, Stuve LL, Gibbs RA, Belmont JW, Boudreau A, Hardenbol P, Leal SM, Pasternak S, Wheeler DA, Willis TD, Yu F, Yang H, Zeng C, Gao Y, Hu H, Hu W, Li C, Lin W, Liu S, Pan H, Tang X, Wang J, Wang W, Yu J, Zhang B, Zhang Q, Zhao H, Zhao H, Zhou J, Gabriel SB, Barry R, Blumenstiel B, Camargo A, Defelice M, Faggart M, Goyette M, Gupta S, Moore J, Nguyen H, Onofrio RC, Parkin M, Roy J, Stahl E, Winchester E, Ziaugra L, Altshuler D, Shen Y, Yao Z, Huang W, Chu X, He Y, Jin L, Liu Y, Shen Y, Sun W, Wang H, Wang Y, Wang Y, Xiong X, Xu L, Waye MM, Tsui SK, Xue H, Wong JT, Galver LM, Fan JB, Gunderson K, Murray SS, Oliphant AR, Chee MS, Montpetit A, Chagnon F, Ferretti V, Leboeuf M, Olivier JF, Phillips MS, Roumy S, Sallée C, Verner A, Hudson TJ, Kwok PY, Cai D, Koboldt DC, Miller RD, Pawlikowska L, Taillon-Miller P, Xiao M, Tsui LC, Mak W, Song YQ, Tam PK, Nakamura Y, Kawaguchi T, Kitamoto T, Morizono T, Nagashima A, Ohnishi Y, Sekine A, Tanaka T, Tsunoda T, Deloukas P, Bird CP, Delgado M, Dermitzakis ET, Gwilliam R, Hunt S, Morrison J, Powell D, Stranger BE, Whittaker P, Bentley DR, Daly MJ, de Bakker PI, Barrett J, Chretien YR, Maller J, McCarroll S, Patterson N, Pe'er I, Price A, Purcell S, Richter DJ, Sabeti P, Saxena R, Schaffner SF, Sham PC, Varilly P, Altshuler D, Stein LD, Krishnan L, Smith AV, Tello-Ruiz MK, Thorisson GA, Chakravarti A, Chen PE, Cutler DJ, Kashuk CS, Lin S, Abecasis GR, Guan W, Li Y, Munro HM, Qin ZS, Thomas DJ, McVean G, Auton A, Bottolo L, Cardin N, Eyheramendy S, Freeman C, Marchini J, Myers S, Spencer C, Stephens M, Donnelly P, Cardon LR, Clarke G, Evans DM, Morris AP, Weir BS, Tsunoda T, Johnson TA, Mullikin JC, Sherry ST, Feolo M, Skol A, Zhang H, Zeng C, Zhao H, Matsuda I, Fukushima Y, Macer DR, Suda E, Rotimi CN, Adebamowo CA, Ajayi I, Aniagwu T, Marshall PA, Nkwodimmah C, Royal CD, Leppert MF, Dixon M, Peiffer A, Qiu R, Kent A, Kato K, Niikawa N, Adewole IF, Knoppers BM, Foster MW, Clayton EW, Watkin J, Gibbs RA, Belmont JW, Muzny D, Nazareth L, Sodergren E, Weinstock GM, Wheeler DA, Yakub I, Gabriel SB, Onofrio RC, Richter DJ, Ziaugra L, Birren BW, Daly MJ, Altshuler D, Wilson RK, Fulton LL, Rogers J, Burton J, Carter NP, Clee CM, Griffiths M, Jones MC, McLay K, Plumb RW, Ross MT, Sims SK, Willey DL, Chen Z, Han H, Kang L, Godbout M, Wallenburg JC, L'Archevêque P, Bellemare G, Saeki K, Wang H, An D, Fu H, Li Q, Wang Z, Wang R, Holden AL, Brooks LD, McEwen JE, Guyer MS, Wang VO, Peterson JL, Shi M, Spiegel J, Sung LM, Zacharia LF, Collins FS, Kennedy K, Jamieson R, Stewart J, 2007. Genome-wide detection and characterization of positive selection in human populations. Nature 449(7164): 913-918.
26. Schmauss C, Haroutunian V, Davis KL, Davidson M. 1993. Selective loss of dopamine D3-type receptor mRNA expression in parietal and motor cortices of patients with chronic schizophrenia. Proc Natl Acad Sci USA 90(19): 8942-8946.
27. Utsunomiya K, Shinkai T, De Luca V, Hwang R, Sakata S, Fukunaka Y, Chen HI, Ohmori O, Nakamura J. 2008. Genetic association between the dopamine D3 gene polymorphism (Ser9Gly) and schizophrenia in Japanese populations: Evidence from a case-control study and meta-analysis. Neurosci Lett 444(2): 161-165.
28. Vogel M, Pfeifer S, Schaub RT, Grabe HJ, Barnow S, Freyberger HJ, Cascorbi I. 2004. Decreased levels of dopamine D3 receptor mRNA in schizophrenic and bipolar patients. Neuropsychobiology 50(4): 305-310.
29. Williams J, Spurlock G, Holmans P, Mant R, Murphy K, Jones L, Cardno A, Asherson P, Blackwood D, Muir W, Meszaros K, Aschauer H, Mallet J, Laurent C, Pekkarinen P, Seppala J, Stefanis CN, Papadimitriou GN, Macciardi F, Verga M, Pato C, Azevedo H, Crocq MA, Gurling H, Owen MJ, et al. 1998. A meta-analysis and transmission disequilibrium study of association between the dopamine D3 receptor gene and schizophrenia. Mol Psychiatry 3(2): 141-149.