Imaging genetics of schizophrenia;Imagenología de la expresión genética en la esquizofrenia

Dialogues in Clinical Neuroscience

Volumn 12, Issue 4, 2010, Pages 449-456

  Meyer Lindenberg, Andreas ^a  

^a CENTRAL INSTITUTE OF MENTAL HEALTH   (Germany)

Author keywords

COMT; Dopamine; Imaging genetics; Neuroimaging; Polymorphism; Prefrontal cortex; Schizophrenia; ZNF804A

Indexed keywords

CATECHOL METHYLTRANSFERASE; DOPAMINE 2 RECEPTOR; DOPAMINE 4 RECEPTOR; RGS4 PROTEIN; DOPAMINE;

ARTICLE; COPY NUMBER VARIATION; DOPAMINERGIC SYSTEM; GENETIC EPISTASIS; GENETIC VARIABILITY; GENETICS; GENOME; HUMAN; NUCLEOTIDE SEQUENCE; PHENOTYPE; SCHIZOPHRENIA; SINGLE NUCLEOTIDE POLYMORPHISM; DIAGNOSTIC IMAGING; GENETIC ASSOCIATION; GENETIC PREDISPOSITION; REVIEW;

CATECHOL O-METHYLTRANSFERASE; DIAGNOSTIC IMAGING; DOPAMINE; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; GENOME-WIDE ASSOCIATION STUDY; HUMANS; SCHIZOPHRENIA;

EID: 79952463714     PISSN: 12948322     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (56)

1. 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.
2. Gottesman, II, Shields J. A polygenic theory of schizophrenia. Proc Natl Acad Sci U S A. 1967;58:199-205.
3. Gottesman, II, Gould TD. The endophenotype concept in psychiatry: etymology and strategic intentions. Am J Psychiatry. 2003;160:636-645.
4. Munafo MR, Attwood AS, Flint J. Bias in genetic association studies: effects of research location and resources. Psychol Med. 2008;38:1213-1214.
5. Mier D, Kirsch P, Meyer-Lindenberg A. Neural substrates of pleiotropic action of genetic variation in COMT: a meta-analysis. Mol Psychiatry. 2010;15:918-927.
6. Egan MF, Goldberg TE, Kolachana BS, et al. Effect of COMT Val108/158 Met genotype on frontal lobe function and risk for schizophrenia. Proc Natl Acad Sci U S A. 2001;98:6917-22.
7. Bertocci B, Miggiano V, Da Prada M, Dembic Z, Lahm HW, Malherbe P. Human catechol-O-methyltransferase: cloning and expression of the membrane-associated form. Proc Natl Acad Sci U S A. 1991;88:1416-1420.
8. Grossman MH, Emanuel BS, Budarf ML. Chromosomal mapping of the human catechol-O-methyltransferase gene to 22q11.1----q11.2. Genomics. 1992;12:822-825.
9. Owen MJ, Williams NM, O'Donovan MC. The molecular genetics of schizophrenia: new findings promise new insights. Mol Psychiatry. 2004;9:14-27.
10. Zinkstok J, van Amelsvoort T. Neuropsychological profile and neuroimaging in patients with 22Q11.2 Deletion Syndrome: a review. Child Neuropsychol. 2005;11:21-37.
11. Masuda M, Tsunoda M, Imai K. High-performance liquid chromatography-fluorescent assay of catechol-O-methyltransferase activity in rat brain. Anal Bioanal Chem. 2003;376:1069-1073.
12. Hong J, Shu-Leong H, Tao X, Lap-Ping Y. Distribution of catechol-Omethyltransferase expression in human central nervous system. Neuroreport. 1998;9:2861-2864.
13. Lipska BK, Mitkus S, Caruso M, et al. RGS4 mRNA expression in postmortem human cortex is associated with COMT Val158Met genotype and COMT enzyme activity. Hum Mol Genet. 2006;15:2804-2812.
14. Gogos JA, Morgan M, Luine V, et al. Catechol-O-methyltransferasedeficient mice exhibit sexually dimorphic changes in catecholamine levels and behavior. Proc Natl Acad Sci U S A. 1998;95:9991-9996.
15. Chen J, Lipska BK, Halim N, et al. Functional analysis of genetic variation in catechol-O-methyltransferase (COMT): effects on mRNA, protein, and enzyme activity in postmortem human brain. Am J Hum Genet. 2004;75:807-821.
16. Chen X, Wang X, O'Neill AF, Walsh D, Kendler KS. Variants in the catechol-o-methyltransferase (COMT) gene are associated with schizophrenia in Irish high-density families. Mol Psychiatry. 2004;9:962-967.
17. Bilder RM, Volavka J, Lachman HM, Grace AA. The catechol-Omethyltransferase polymorphism: relations to the tonic-phasic dopamine hypothesis and neuropsychiatric phenotypes. Neuropsychopharmacology. 2004;29:1943-1961.
18. de Frias CM, Marklund P, Eriksson E, et al. Influence of COMT gene polymorphism on fMRI-assessed sustained and transient activity during a working memory task. J Cogn Neurosci. 2010;22:1614-1622.
19. Ettinger U, Kumari V, Collier DA, et al. Catechol-O-methyltransferase (COMT) val158met genotype is associated with BOLD response as a function of task characteristic. Neuropsychopharmacology. 2008;33:3046-3057.
20. Bertolino A, Caforio G, Blasi G, et al. Interaction of COMT (Val(108/158)Met) genotype and olanzapine treatment on prefrontal cortical function in patients with schizophrenia. Am J Psychiatry. 2004;161:1798-1805.
21. Loughead J, Wileyto EP, Valdez JN, et al. Effect of abstinence challenge on brain function and cognition in smokers differs by COMT genotype. Mol Psychiatry. 2009;14:820-826.
22. Bishop SJ, Fossella J, Croucher CJ, Duncan J. COMT val158met genotype affects recruitment of neural mechanisms supporting fluid intelligence. Cereb Cortex. 2008;18:2132-2140.
23. Honea R, Verchinski BA, Pezawas L, et al. Impact of interacting functional variants in COMT on regional gray matter volume in human brain. Neuroimage. 2009;45:44-51.
24. Zinkstok J, Schmitz N, van Amelsvoort T, et al. The COMT val158met polymorphism and brain morphometry in healthy young adults. Neurosci Lett. 2006;405:34-39.
25. Ho BC, Wassink TH, O'Leary DS, Sheffield VC, Andreasen NC. Catechol-O-methyl transferase Val158Met gene polymorphism in schizophrenia: working memory, frontal lobe MRI morphology and frontal cerebral blood flow. Mol Psychiatry. 200;10:229,87-98.
26. Ohnishi T, Hashimoto R, Mori T, et al. The association between the Val158Met polymorphism of the catechol-O-methyl transferase gene and morphological abnormalities of the brain in chronic schizophrenia. Brain. 2006;129(Pt 2):399-410.
27. McIntosh AM, Baig BJ, Hall J, et al. Relationship of catechol-Omethyltransferase variants to brain structure and function in a population at high risk of psychosis. Biol Psychiatry. In press.
28. Li J, Yu C, Li Y, et al. COMT val158met modulates association between brain white matter architecture and IQ. Am J Med Genet B Neuropsychiatr Genet. 2009;150B:375-380.
29. Bertolino A, Fazio L, Caforio G, et al. Functional variants of the dopamine receptor D2 gene modulate prefronto-striatal phenotypes in schizophrenia. Brain. 2009;132(Pt 2):417-425.
30. Buckholtz JW, Meyer-Lindenberg A, Honea RA, et al. Allelic variation in RGS4 impacts functional and structural connectivity in the human brain. J Neurosci. 2007;27:1584-1593.
31. Meyer-Lindenberg A, Straub RE, Lipska BK, et al. Genetic evidence implicating DARPP-32 in human frontostriatal structure, function, and cognition. J Clin Invest. 2007;117:672-682.
32. Tan HY, Nicodemus KK, Chen Q, et al. Genetic variation in AKT1 is linked to dopamine-associated prefrontal cortical structure and function in humans. J Clin Invest. 2008;118:2200-2208.
33. Forbes EE, Brown SM, Kimak M, Ferrell RE, Manuck SB, Hariri AR. Genetic variation in components of dopamine neurotransmission impacts ventral striatal reactivity associated with impulsivity. Mol Psychiatry. 2009;14:60-70.
34. Purcell SM, Wray NR, Stone JL, et al. Common polygenic variation contributes to risk of schizophrenia and bipolar disorder. Nature. 2009;460:748-752.
35. Shi J, Levinson DF, Duan J, Sanders AR, Zheng Y, Pe'er I. Common variants on chromosome 6p22.1 are associated with schizophrenia. Nature. 2009;460:753-757.
36. Stefansson H, Ophoff RA, Steinberg S, et al. Common variants conferring risk of schizophrenia. Nature. 2009;460:744-747.
37. Esslinger C, Walter H, Kirsch P, et al. Neural mechanisms of a genomewide supported psychosis variant. Science. 2009;324:605.
38. Walters JT, Corvin A, Owen MJ, et al. Psychosis susceptibility gene ZNF804A and cognitive performance in schizophrenia. Arch Gen Psychiatry. 2010;67:692-700.
39. 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;40:768-775.
40. Bray NJ, Buckland PR, Williams NM, et al. A haplotype implicated in schizophrenia susceptibility is associated with reduced COMT expression in human brain. Am J Hum Genet. 2003;73:152-161.
41. Meyer-Lindenberg A, Nichols T, Callicott JH, et al. Impact of complex genetic variation in COMT on human brain function. Mol Psychiatry. 2006;11:867-877, 797.
42. Bertolino A, Blasi G, Latorre V, et al. Additive effects of genetic variation in dopamine regulating genes on working memory cortical activity in human brain. J Neurosci. 2006;26:3918-3922.
43. Caldu X, Vendrell P, Bartres-Faz D, et al. Impact of the COMT Val108/158 Met and DAT genotypes on prefrontal function in healthy subjects. Neuroimage. 2007;37:1437-1444.
44. Congdon E, Constable RT, Lesch KP, Canli T. Influence of SLC6A3 and COMT variation on neural activation during response inhibition. Biol Psychol. 2009;81:144-152.
45. Dreher JC, Kohn P, Kolachana B, Weinberger DR, Berman KF. Variation in dopamine genes influences responsivity of the human reward system. Proc Natl Acad Sci U S A. 2009;106:617-622.
46. Bertolino A, Di Giorgio A, Blasi G, et al. Epistasis between dopamine regulating genes identifies a nonlinear response of the human hippocampus during memory tasks. Biol Psychiatry. 2008;64:226-234.
47. Buckholtz JW, Sust S, Tan HY, et al. fMRI evidence for functional epistasis between COMT and RGS4. Mol Psychiatry. 2007;12:893-895.
48. Liu J, Pearlson G, Windemuth A, Ruano G, Perrone-Bizzozero NI, Calhoun V. Combining fMRI and SNP data to investigate connections between brain function and genetics using parallel ICA. Hum Brain Mapp. 2009;30:241-255.
49. Walsh T, McClellan JM, McCarthy SE, et al. Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. Science. 2008;321:690.
50. International Schizophrenia Consortium. Rare chromosomal deletions and duplications increase risk of schizophrenia. Nature. 2008;455:237-241.
51. Stefansson H, Rujescu D, Cichon S, et al. Large recurrent microdeletions associated with schizophrenia. Nature. 2008;455:232-236.
52. Karayiorgou M, Simon TJ, Gogos JA. 22q11.2 microdeletions: linking DNA structural variation to brain dysfunction and schizophrenia. Nat Rev Neurosci. 2010;11:402-416.
53. Ben-Shachar S, Lanpher B, German JR, et al. Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders. J Med Genet. 2009;46:382-388.
54. Kempf L, Nicodemus KK, Kolachana B, et al. Functional polymorphisms in PRODH are associated with risk and protection for schizophrenia and fronto-striatal structure and function. PLoS Genet. 2008;4:e1000252.
55. Potkin SG, Macciardi F, Guffanti G, et al. Identifying gene regulatory networks in schizophrenia. Neuroimage. 2010;53:839-847.
56. Stein JL, Hua X, Morra JH, et al. Genome-wide analysis reveals novel genes influencing temporal lobe structure with relevance to neurodegeneration in Alzheimer's disease. Neuroimage. 2010;51:542-554.