A common haplotype of DRD3 affected by recent positive selection is associated with protection from schizophrenia

Human Genetics

Volumn 124, Issue 6, 2009, Pages 607-613

  Costas, Javier ^a   Carrera, Noa ^a   Domínguez, Eduardo ^b   Vilella, Elisabet ^c   Martorell, Lourdes ^c   Valero, Joaquín ^c   Gutiérrez Zotes, Alfonso ^c   Labad, Antonio ^c   Carracedo, Ángel ^a,b  

^a HOSPITAL CLÍNICO UNIVERSITARIO   (Spain)

^b UNIVERSITY OF SANTIAGO DE COMPOSTELA   (Spain)

^c UNIVERSITAT ROVIRA I VIRGILI   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

DOPAMINE 3 RECEPTOR; GLYCINE; SERINE;

ADULT; AFRICA SOUTH OF THE SAHARA; ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; CONTROLLED STUDY; DISEASE PREDISPOSITION; EUROPE; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENE LOCUS; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC SELECTION; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; HAPLOTYPE; HOMOZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; NATURAL SELECTION; PRIORITY JOURNAL; SCHIZOPHRENIA; SINGLE NUCLEOTIDE POLYMORPHISM;

ADOLESCENT; ADULT; CASE-CONTROL STUDIES; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HUMANS; LINKAGE DISEQUILIBRIUM; MALE; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTORS, DOPAMINE D3; SCHIZOPHRENIA; SELECTION (GENETICS); SPAIN; YOUNG ADULT;

EID: 58049130325     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-008-0584-7     Document Type: Article

References (41)

1. Abramson JH (2004) WINPEPI (PEPI-for-Windows): Computer programs for epidemiologists. Epidemiol Perspect Innov 1:6
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 102:493-498
3. Barrett JC, Fry B, Maller J, Daly MJ (2005) Haploview: Analysis and visualization of LD and haplotype maps. Bioinformatics 21:263-265
4. Bombin I, Arango C, Mayoral M, Castro-Fornieles J, Gonzalez-Pinto A, Gonzalez-Gomez C, Moreno D, Parellada M, Baeza I, Graell M et al (2008) DRD3, but not COMT or DRD2, genotype affects executive functions in healthy and first-episode psychosis adolescents. Am J Med Genet B Neuropsychiatr Genet 147B(6):873-879
5. Brown S (1997) Excess mortality of schizophrenia. A metaanalysis. Br J Psychiatry 171:502-508
6. Brune M (2004) Schizophrenia-an evolutionary enigma? Neurosci Biobehav Rev 28:41-53
7. Cann HM, de Toma C, Cazes L, Legrand MF, Morel V, Piouffre L, Bodmer J, Bodmer WF, Bonne-Tamir B, Cambon-Thomsen A et al (2002) A human genome diversity cell line panel. Science 296:261-262
8. Carrera N, Sanjuán J, Moltó MD, Carracedo A, Costas J (2008) Recent adaptive selection at MAOB and ancestral susceptibility to schizophrenia. Am J Med Genet B Neuropsychiatr Genet (in press). doi: 10.1002/ajmg.b.30823
9. Costas J, Torres M, Cristobo I, Phillips C, Carracedo A (2005) Relative efficiency of the linkage disequilibrium mapping approach in detecting candidate genes for schizophrenia in different European populations. Genomics 86:280-286
10. Craddock N, O'Donovan MC, Owen MJ (2007) Phenotypic and genetic complexitA of psychosis. Invited commentary on: Schizophrenia: a common disease caused by multiple rare alleles. Br J Psychiatry 190:200-203
11. Crespi B, Summers K, Dorus S (2007) Adaptive evolution of genes underlying schizophrenia. Proc Biol Sci 274:2801-2810
12. Di Rienzo A, Hudson RR (2005) An evolutionary framework for common diseases: The ancestral-susceptibility model. Trends Genet 21:596-601
13. Ding YC, Chi HC, Grady DL, Morishima A, Kidd JR, Kidd KK, Flodman P, Spence MA, Schuck S, Swanson JM et al (2002) Evidence of positive selection acting at the human dopamine receptor D4 gene locus. Proc Natl Acad Sci USA 99:309-314
14. Dominguez E, Loza MI, Padin F, Gesteira A, Paz E, Paramo M, Brenlla J, Pumar E, Iglesias F, Cibeira A et al (2007) Extensive linkage disequilibrium mapping at HTR2A and DRD3 for schizophrenia susceptibility genes in the Galician population. Schizophr Res 90:123-129
15. Dudbridge F (2003) Pedigree disequilibrium tests for multilocus haplotypes. Genet Epidemiol 25:115-121
16. Dupont WD, Plummer WD (1997) PS power and sample size program available for free on the Internet. Control Clin Trials 18:274
17. Gabriel SB, Schaffner SF, Nguyen H, Moore JM, Roy J, Blumenstiel B, Higgins J, DeFelice M, Lochner A, Faggart M et al (2002) The structure of haplotype blocks in the human genome. Science 296:2225-2229
18. Haukka J, Suvisaari J, Lonnqvist J (2003) Fertility of patients with schizophrenia, their siblings, and the general population: A cohort study from 1950 to 1959 in Finland. Am J Psychiatry 160:460-463
19. Huxley J, Mayr E, Osmond H, Hoffer A (1964) Schizophrenia as a genetic morphism. Nature 204:220-221
20. International HapMap Consortium (2007) A second generation human haplotype map of over 3.1 million SNPs. Nature 449:851-861
21. 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 103:10753-10758
22. Jonsson EG, Kaiser R, Brockmoller J, Nimgaonkar VL, Crocq MA (2004) Meta-analysis of the dopamine D3 receptor gene (DRD3) Ser9Gly variant and schizophrenia. Psychiatr Genet 14:9-12
23. Keller MC, Miller G (2006) Resolving the paradox of common, harmful, heritable mental disorders: Which evolutionary genetic models work best? Behav Brain Sci 29:385-404 Discussion 405-452
24. Laszy J, Laszlovszky I, Gyertyán I (2005) Dopamine D3 receptor antagonists improve the learning performance in memory-impaired rats. Psychopharmacology (Berl) 179:567-575
25. Lo W-S, Xu ZW, Yu ZL, Pun FW, Ng S-K, Chen J, Tong KL, Zhao C, Xu X, Tsang SY et al (2007) Positive selection within the schizophrenia-associated GABAA receptor b2 gene. PloS ONE 2:e462
26. Lohmueller KE, Pearce CL, Pike M, Lander ES, Hirschhorn JN (2003) Meta-analysis of genetic association studies supports a contribution of common variants to susceptibility to common disease. Nat Genet 33:177-182
27. Ma G, He Z, Fang W, Tang W, Huang K, Li Z, He G, Xu Y, Feng G, Zheng T et al (2008) The Ser9Gly polymorphism of the dopamine D3 receptor gene and risk of schizophrenia: An association study and a large meta-analysis. Schizophr Res 101:26-35
28. McClellan JM, Susser E, King MC (2007) Schizophrenia: A common disease caused by multiple rare alleles. Br J Psychiatry 190:194-199
29. Pritchard JK, Stephens M, Donnelly P (2000) Inference of population structure using multilocus genotype data. Genetics 155:945-959
30. Rajeevan H, Osier MV, Cheung KH, Deng H, Druskin L, Heinzen R, Kidd JR, Stein S, Pakstis AJ, Tosches NP et al (2003) ALFRED: The ALelle FREquency Database. Update. Nucleic Acids Res 31:270-271
31. Roig B, Virgos C, Franco N, Martorell L, Valero J, Costas J, Carracedo A, Labad A, Vilella E (2007) The discoidin domain receptor 1 as a novel susceptibility gene for schizophrenia. Mol Psychiatry 12:833-841
32. Rosenberg NA (2006) Standardized subsets of the HGDP-CEPH Human Genome Diversity Cell Line Panel, accounting for atypical and duplicated samples and pairs of close relatives. Ann Hum Genet 70:841-847
33. Sabeti PC, Reich DE, Higgins JM, Levine HZ, Richter DJ, Schaffner SF, Gabriel SB, Platko JV, Patterson NJ, McDonald GJ et al (2002) Detecting recent positive selection in the human genome from haplotype structure. Nature 419:832-837
34. Saha S, Chant D, Welham J, McGrath J (2005) A systematic review of the prevalence of schizophrenia. PLoS Med 2:e141
35. Sand PG, Langguth B, Prikryl R, Kucerova H, Ceskova E (2008) A putative DRD3 schizophrenia risk haplotype deconstructed. Biol Psychiatry 63(3):e21 Author reply e23-25
36. Sokoloff P, Giros B, Martres M-P, Bouthenet M-L, Schwartz J-C (1990) Molecular cloning and characterization of a novel dopamine receptor (D-3) as a target for neuroleptics. Nature 347:146-151
37. Stephens M, Smith NJ, Donnelly P (2001) A new statistical method for haplotype reconstruction from population data. Am J Hum Genet 68:978-989
38. Sullivan PF, Kendler KS, Neale MC (2003) Schizophrenia as a complex trait: Evidence from a meta-analysis of twin studies. Arch Gen Psychiatry 60:1187-1192
39. Talkowski ME, Mansour H, Chowdari KV, Wood J, Butler A, Varma PG, Prasad S, Senwal P, Bhatia T, Deshpande S et al (2006) Novel, replicated associations between dopamine D3 receptor gene polymorphisms and schizophrenia in two independent samples. Biol Psychiatry 60:570-577
40. Walsh T, McClellan JM, McCarthy SE, Addington AM, Pierce SB, Cooper GM, Nord AS, Kusenda M, Malhotra D, Bhandari A et al (2008) Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. Science 320(5875):539-543
41. Wang E, Ding YC, Flodman P, Kidd JR, Kidd KK, Grady DL, Ryder OA, Spence MA, Swanson JM, Moyzis RK (2004) The genetic architecture of selection at the human dopamine receptor D4 (DRD4) gene locus. Am J Hum Genet 74:931-944