Genome-wide association studies of schizophrenia: Does bigger lead to better results?

Current Opinion in Psychiatry

Volumn 25, Issue 2, 2012, Pages 76-82

  Bergen, Sarah E ^a,b   Petryshen, Tracey L ^a,b  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b MASSACHUSETTS INSTITUTE OF TECHNOLOGY   (United States)

Author keywords

association; genetic; genome wide association studies; risk gene; schizophrenia

Indexed keywords

CALMODULIN; MICRORNA; MICRORNA 137; NEUROGRANIN; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR 4; UNCLASSIFIED DRUG; VOLTAGE GATED CALCIUM CHANNEL;

CACNA1C GENE; COPY NUMBER VARIATION; CPG ISLAND; CSMD1 GENE; DNA SEQUENCE; EFFECT SIZE; ENDOPHENOTYPE; GENE; GENE EXPRESSION; GENETIC ASSOCIATION; GENETIC HETEROGENEITY; GENETIC RISK; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HEMISPHERE; HIPPOCAMPUS; HISTONE ACETYLATION; INTERNEURON; MAJOR HISTOCOMPATIBILITY COMPLEX; META ANALYSIS (TOPIC); MOLECULAR GENETICS; NERVE CELL PLASTICITY; PATHOPHYSIOLOGY; PREFRONTAL CORTEX; REVIEW; SAMPLE SIZE; SCHIZOPHRENIA; SINGLE NUCLEOTIDE POLYMORPHISM;

GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; POLYMORPHISM, SINGLE NUCLEOTIDE; SAMPLE SIZE; SCHIZOPHRENIA;

EID: 84857039605     PISSN: 09517367     EISSN: 14736578     Source Type: Journal    
DOI: 10.1097/YCO.0b013e32835035dd     Document Type: Review

References (52)

1. Kendler KS, Diehl SR. The genetics of schizophrenia: a current, geneticepidemiologic perspective. Schizophr Bull 1993; 19:261-285. (Pubitemid 23183148)
2. Lichtenstein P, Yip BH, Bjork C, et al. Common genetic determinants of schizophrenia and bipolar disorder in Swedish families: a population-based study. Lancet 2009; 373:234-239.
3. Sullivan PF, Kendler KS, Neale MC. Schizophrenia as a complex trait: evidence from a meta-analysis of twin studies. Arch Gen Psychiatry 2003; 60:1187-1192. (Pubitemid 37494071)
4. Collins AL, Kim Y, Sklar P, et al. Hypothesis-driven candidate genes for schizophrenia compared to genome-wide association results. Psychol Med 2011. [Epub ahead of print]
5. Need AC, Ge D, Weale ME, et al. A genome-wide investigation of SNPs and CNVs in schizophrenia. PLoS Genet 2009; 5:e1000373.
6. Mah S, Nelson MR, Delisi LE, et al. Identification of the semaphorin receptor PLXNA2 as a candidate for susceptibility to schizophrenia. Mol Psychiatry 2006; 11:471-478.
7. Pe'er I, Yelensky R, Altshuler D, Daly MJ. Estimation of the multiple testing burden for genomewide association studies of nearly all common variants. Genet Epidemiol 2008; 32:381-385. (Pubitemid 351656309)
8. Wray NR, Visscher PM. Narrowing the boundaries of the genetic architecture of schizophrenia. Schizophr Bull 2010; 36:14-23.
9. Purcell SM, Wray NR, Stone JL, et al. Common polygenic variation contributes to risk of schizophrenia and bipolar disorder. Nature 2009; 460:748-752.
10. O'Donovan MC, Craddock NJ, Owen MJ. Genetics of psychosis; insights from views across the genome. Hum Genet 2009; 126:3-12.
11. Girard SL, Xiong L, Dion PA, Rouleau GA. Where are the missing pieces of the schizophrenia genetics puzzle? Curr Opin Genet Dev 2011; 21:310-316.
12. Kim Y, Zerwas S, Trace SE, Sullivan PF. Schizophrenia genetics: where next? Schizophr Bull 2011; 37:456-463.
13. Cichon S, Craddock N, Daly M, et al. Genomewide association studies: history, rationale, and prospects for psychiatric disorders. Am J Psychiatry 2009; 166:540-556.
14. Lee KW, Woon PS, Teo YY, Sim K. Genome wide association studies (GWAS) and copy number variation (CNV) studies of the major psychoses: What have we learnt? Neurosci Biobehav Rev 2012; 36:556-571.
15. Cohen J. A power primer. Psychol Bull 1992; 112:155-159.
16. Speliotes EK, Willer CJ, Berndt SI, et al. Association analyses of 249 796 individuals reveal 18 new loci associated with body mass index. Nat Genet 2010; 42:937-948.
17. Lango Allen H, Estrada K, Lettre G, et al. Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature 2010; 467:832-838.
18. Lencz T, Morgan TV, Athanasiou M, et al. Converging evidence for a pseudoautosomal cytokine receptor gene locus in schizophrenia. Mol Psychiatry 2007; 12:572-580. (Pubitemid 46816774)
19. Sullivan PF, Lin D, Tzeng JY, et al. Genomewide association for schizophrenia in the CATIE study: results of stage 1. Mol Psychiatry 2008; 13:570-584. (Pubitemid 351704941)
20. O'Donovan MC, Craddock N, Norton N, et al. Identification of loci associated with schizophrenia by genome-wide association and follow-up. Nat Genet 2008; 40:1053-1055.
21. Shifman S, Johannesson M, Bronstein M, et al. Genome-wide association identifies a common variant in the reelin gene that increases the risk of schizophrenia only in women. PLoS Genet 2008; 4:e28.
22. Kirov G, Zaharieva I,Georgieva L, et al.A genome-wide association study in 574 schizophrenia trios using DNA pooling. Mol Psychiatry 2009; 14:796-803.
23. Shi J, Levinson DF, Duan J, et al. Common variants on chromosome 6p22.1 are associated with schizophrenia. Nature 2009; 460:753-757.
24. Stefansson H, Ophoff RA, Steinberg S, et al. Common variants conferring risk of schizophrenia. Nature 2009; 460:744-747.
25. Chen X, Lee G, Maher BS, et al. GWA study data mining and independent replication identify cardiomyopathy-associated 5 (CMYA5) as a risk gene for schizophrenia. Mol Psychiatry 2011; 16:1117-1129.
26. Athanasiu L, Mattingsdal M, Kahler AK, et al. Gene variants associated with schizophrenia in a Norwegian genome-wide study are replicated in a large European cohort. J Psychiatr Res 2010; 44:748-753.
27. Williams HJ, Norton N, Dwyer S, et al. Fine mapping of ZNF804A and genome-wide significant evidence for its involvement in schizophrenia and bipolar disorder. Mol Psychiatry 2011; 16:429-441.
28. Ikeda M, Aleksic B, Kinoshita Y, et al. Genome-wide association study of schizophrenia in a Japanese population. Biol Psychiatry 2011; 69:472-478.
29. Steinberg S, de Jong S, Andreassen OA, et al. Common variants at VRK2 and TCF4 conferring risk of schizophrenia. Hum Mol Genet 2011; 20:4076-4081.
30. Ripke S, Sanders AR, Kendler KS, et al. Genome-wide association study identifies five new schizophrenia loci. Nat Genet 2011; 43:969-976.
31. Yue WH, Wang HF, Sun LD, et al. Genome-wide association study identifies a susceptibility locus for schizophrenia in Han Chinese at 11p11.2. Nat Genet 2011; 43:1228-1231.
32. Shi Y, Li Z, Xu Q, et al. Common variants on 8p12 and 1q24.2 confer risk of schizophrenia. Nat Genet 2011; 43:1224-1227.
33. Sebat J, Levy DL, McCarthy SE. Rare structural variants in schizophrenia: one disorder, multiple mutations; one mutation, multiple disorders. Trends Genet 2009; 25:528-535.
34. Bassett AS, Scherer SW, Brzustowicz LM. Copy number variations in schizophrenia: critical review and new perspectives on concepts of genetics and disease. Am J Psychiatry 2010; 167:899-914.
35. Kirov G. The role of copy number variation in schizophrenia. Expert Rev Neurother 2010; 10:25-32.
36. Tam GW, Redon R, Carter NP, Grant SG. The role of DNA copy number variation in schizophrenia. Biol Psychiatry 2009; 66:1005-1012.
37. Williams HJ,OwenMJ, O'Donovan MC. Schizophrenia genetics: new insights from new approaches. Br Med Bull 2009; 91:61-74.
38. Owen MJ, Williams HJ, O'Donovan MC. Schizophrenia genetics: advancing on two fronts. Curr Opin Genet Dev 2009; 19:266-270.
39. Klein RJ, Zeiss C, Chew EY, et al. Complement factor H polymorphism in agerelated macular degeneration. Science 2005; 308:385-389. (Pubitemid 40530070)
40. Rohrer B, Long Q, Coughlin B, et al. A targeted inhibitor of the alternative complement pathway reduces angiogenesis in a mouse model of age-related macular degeneration. Invest Ophthalmol Vis Sci 2009; 50:3056-3064.
41. Rioux JD, Xavier RJ, Taylor KD, et al. Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis. Nat Genet 2007; 39:596-604. (Pubitemid 46676115)
42. Fiocchi C. Susceptibility genes and overall pathogenesis of inflammatory bowel disease: where do we stand? Dig Dis 2009; 27:226-235.
43. Szulwach KE, Li X, Smrt RD, et al. Cross talk between microRNA and epigenetic regulation in adult neurogenesis. J Cell Biol 2010; 189:127-141.
44. Silber J, Lim DA, Petritsch C, et al. MIR-124 and MIR-137 inhibit proliferation of glioblastoma multiforme cells and induce differentiation of brain tumor stem cells. BMC Med 2008; 6:14.
45. Smrt RD, Szulwach KE, Pfeiffer RL, et al. MicroRNA miR-137 regulates neuronal maturation by targeting ubiquitin ligase mind bomb-1. Stem Cells 2010; 28:1060-1070.
46. Kraus DM, Elliott GS, Chute H, et al. CSMD1 is a novel multiple domain complement-regulatory protein highly expressed in the central nervous system and epithelial tissues. J Immunol 2006; 176:4419-4430. (Pubitemid 44264422)
47. Flora A, Garcia JJ, Thaller C, Zoghbi HY. The E-protein Tcf4 interacts with Math1 to regulate differentiation of a specific subset of neuronal progenitors. Proc Natl Acad Sci U S A 2007; 104:15382-15387. (Pubitemid 47502926)
48. Jiang M, Swann JW. A role for L-type calcium channels in the maturation of parvalbumin-containing hippocampal interneurons. Neuroscience 2005; 135:839-850. (Pubitemid 41407746)
49. Brennand KJ, Simone A, Jou J, et al. Modelling schizophrenia using human induced pluripotent stem cells. Nature 2011; 473:221-225.
50. Walters JT, Corvin A, Owen MJ, et al. Psychosis susceptibility gene ZNF804A and cognitive performance in schizophrenia. Arch Gen Psychiatry 2010; 67:692-700.
51. Lennertz L,Quednow BB, Benninghoff J, et al. Impact of TCF4 on the genetics of schizophrenia. Eur Arch Psychiatry Clin Neurosci 2011; 261 (Suppl 2): 161-165.
52. Esslinger C, Walter H, Kirsch P, et al. Neural mechanisms of a genome-wide supported psychosis variant. Science 2009; 324:605.