Genetic study of schizophrenia: New targets for therapy

Expert Review of Neurotherapeutics

Volumn 3, Issue 1, 2003, Pages 41-50

  Ujike, Hiroshi ^a   Nakata, Kenji ^a  

^a OKAYAMA UNIVERSITY   (Japan)

Author keywords

Genetics; Neurodevelopmental hypothesis; Schizophrenia; Susceptibility; Therapy

Indexed keywords

BRAIN DERIVED NEUROTROPHIC FACTOR; CANNABINOID 1 RECEPTOR; CHOLECYSTOKININ; CHOLINERGIC RECEPTOR; CHROMOGRANIN B; CILIARY NEUROTROPHIC FACTOR; DIHYDROPYRIMIDINASE; DOPAMINE 3 RECEPTOR; GLUTAMATE RECEPTOR; GLUTATHIONE TRANSFERASE; INTERLEUKIN 10; METHYLENETETRAHYDROFOLIC ACID; N METHYL DEXTRO ASPARTIC ACID RECEPTOR; NEUROTROPHIN 3; NOTCH RECEPTOR; PROLINE DEHYDROGENASE; RECEPTOR SUBUNIT; SIGMA OPIATE RECEPTOR; ZINC FINGER PROTEIN;

CALCIUM CONDUCTANCE; COMPLEX FORMATION; COST EFFECTIVENESS ANALYSIS; DOPAMINERGIC TRANSMISSION; DRUG RECEPTOR BINDING; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENETICS; HUMAN; NERVE CELL DIFFERENTIATION; NEUROTRANSMITTER RELEASE; PREVALENCE; REVIEW; SCHIZOPHRENIA;

EID: 0037228758     PISSN: 14737175     EISSN: None     Source Type: Journal    
DOI: 10.1586/14737175.3.1.41     Document Type: Review

References (89)

1. World Health Report www.who.int/whR2001/2001/ (2001).
2. Gottesman II, Bertelsen A. Confirming unexpressed genotypes for schizophrenia. Risks in the offspring of Fischer's Danish identical and fraternal discordant twins. Arch. Gen. Psychiatry 46, 867-872 (1989).
3. Kendler KS. Overview: a current perspective on twin studies of schizophrenia. Am. J. Psychiatry 140, 1413-1425 (1983).
4. Karayiorgou M, Gogos JA. Dissecting the genetic complexity of schizophrenia. Mol. Psychiatry 2, 211-223 (1997).
5. Tsuang MT, Stone WS, Faraone SV. Schizophrenia: a review of genetic studies. Harv. Rev. Psychiatry 7, 185-207 (1999).
6. Riley BP, McGuffin P. Linkage and associated studies of schizophrenia. Am. J. Med. Genet. 97, 23-44 (2000).
7. Baron M. Generics of schizophrenia and the new millennium: progress and pitfalls. Am. J. Hum. Genet. 68, 299-312 (2001).
8. Bray NJ, Owen MJ. Searching for schizophrenia genes. Trends Mol. Med. 7, 169-174 (2001).
9. Dubertret C, Gorwood P, Ades J et al. Meta-analysis of DRD3 gene and schizophrenia: ethnic heterogeneity and significant association in Caucasians. Am. J. Med. Genet. 81, 318-322 (1998).
10. 2A receptor T102C polymorphism and schizophrenia. EMASS Collaborative Group. European Multicentre Association Study of Schizophrenia. Lancet 349, 1221 (1997).
11. Shifman S, Bronstein M, Sternfeld M et al. A Highly significant association between a COMT haplotype and schizophrenia. Am. J. Hum. Genet. 71, 1296-1302 (2002).
12. Fenton WS, Hibbeln J, Knable M. Essential fatty acids, lipid membrane abnormalities and the diagnosis and treatment of schizophrenia. Biol. Psychiatry 47, 8-21 (2000). Good review of phospholipids and schizophrenia.
13. Horrobin DF. The membrane phospholipid hypothesis as a biochemical basis for the neurodevelopmental concept of schizophrenia. Schizophr. Res. 30, 193-208 (1998).
14. Gattaz WF, Kollisch M, Thuren T et al. Increased plasma phospholipase-A2 activity in schizophrenic patients: reduction after neuroleptic therapy. Biol. Psychiatry 22, 421-426 (1987).
15. Noponen M, Sanfilipo M, Samanich K et al. Elevated PLA2 activity in schizophrenics and other psychiatric patients. Biol. Psychiatry 34, 641-649 (1993).
16. Ross BM, Hudson C, Erlich J et al. Increased phospholipid breakdown in schizophrenia. Evidence for the involvement of a calcium-independent phospholipase A2. Arch. Gen. Psychiatry 54, 487-494 (1997).
17. Gattaz WF, Schmitt A, Maras A. Increased platelet phospholipase A2 activity in schizophrenia. Schizophr. Res. 16, 1-6 (1995).
18. Pettegrew JW, Keshavan MS, Panchalingam K et al. Alterations in brain high-energy phosphate and membrane phospholipid metabolism in first-episode, drug-naive schizophrenics. A pilot study of the dorsal prefrontal cortex by in vivo phosphorus 31 nuclear magnetic resonance spectroscopy. Arch. Gen. Psychiatry 48, 563-568 (1991).
19. Stanley JA, Williamson PC, Drost DJ et al. An in vivo study of the prefrontal cortex of schizophrenic patients at different stages of illness via phosphorus magnetic resonance spectroscopy. Arch. Gen. Psychiatry 52, 399-406 (1995).
20. 31phosphorus magnetic resonance spectroscopy of the frontal and parietal lobes in chronic schizophrenia Biol. Psychiatry 36, 503-510 (1994).
21. Shioiri T, Kato T, Inubushi T et al. Correlations of phosphomonoesters measured by phosphorus-31 magnetic resonance spectroscopy in the frontal lobes and negative symptoms in schizophrenia. Psychiatry Res. 55, 223-235 (1994).
22. Deicken RF, Merrin EL, Floyd TC et al. Correlation between left frontal phospholipids and Wisconsin Card Sort Test performance in schizophrenia. Schizophr. Res. 14, 177-181 (1995).
23. Hudson CJ, Kennedy JL, Gotowiec A et al. Genetic variant near cytosolic phospholipase A2 associated with schizophrenia. Schizophr. Res. 21, 111-116 (1996).
24. Price SA, Fox H, St Clair D et al. Lack of association between schizophrenia and a polymorphism dose to the cytosolic phospholipase A2 gene. Psychiatr. Genet. 7, 111-114 (1997).
25. Peet M, Ramchand CN, Lee J et al. Association of the Ban I dimorphic site at the human cytosolic phospholipase A2 gene with schizophrenia. Psychiatr. Genet. 8, 191-192 (1998).
26. Takehisa Y, Ujike H, Takaki M et al. Association between schizophrenia and a polymorphism of cytosolic phosphatase A2 gene. Am. J. Med. Genet. 96, 534 (2000).
27. Emsley R, Myburgh C, Oosthuizen P et al. Randomized, placebo-controlled study of ethyl-eicosapentaenoic acid as supplemental treatment in schizophrenia. Am. J. Psychiatry 159, 1596-1598 (2002).
28. Joy CB, Mumby-Croft R, Joy LA. Polyunsaturated fatty acid (fish or evening primrose oil) for schizophrenia. Cochrane Database Syst. Rev. 2, (2000)
29. Wittekindt O, Jauch A, Burgert E et al. The human small conductance calcium-regulated potassium channel gene (hSKCa3) contains two CAG repeats in exon 1, is on chromosome 1q21.3 and shows a possible association with schizophrenia. Neurogenetics 1, 259-265 (1998).
30. Brzustowicz LM, Hodgkinson KA, Chow EW et al. Location of a major susceptibility locus for familial schizophrenia on chromosome 1q21-q22. Science 288, 678-682 (2000).
31. Asherson P, Walsh C, Williams J et al. Imprinting and anticipation. Are they relevant to genetic studies of schizophrenia? Br. J. Psychiatry 164, 619-624 (1994).
32. Bassett AS, Honer WG. Evidence for anticipation in schizophrenia. Am. J. Hum. Genet. 54, 864-870 (1994).
33. Thibaut F, Martinez M, Petit M et al. Further evidence for anticipation in schizophrenia. Psychiatry Res. 59, 25-33 (1995).
34. O'Donovan MC, Guy C, Craddock N et al. Expanded CAG repeats in schizophrenia and bipolar disorder. Nat. Genet. 10, 380-381 (1995). First report indirectly showing expansion of CAG repeats in genomes of schizophrenics.
35. Chandy KG, Fantino E, Wittekindt O et al. Isolation of a novel potassium channel gene hSKCa3 containing a polymorphic CAG repeat: a candidate for schizophrenia and bipolar disorder? Mol. Psychiatry 3, 32-37 (1998).
36. Bowen T, Guy CA, Craddock N et al. Further support for an association between a polymorphic CAG repeat in the hKCa3 gene and schizophrenia. Mol. Psychiatry 3, 266-269 (1998).
37. Dror V, Shamir E, Ghanshani S et al. hKCa3/KCNN3 potassium channel gene: association of longer CAG repeats with schizophrenia in Israeli Ashkenazi Jews, expression in human tissues and localization to chromosome 1q21. Mol. Psychiatry 4, 254-260 (1999).
38. Ujike H, Yamamoto A, Tanaka Y et al. Association study of CAG repeats in the KCNN3 gene in Japanese patients with schizophrenia, schizoaffective disorder and bipolar disorder. Psychiatry Res. 101, 203-207 (2001).
39. Li T, Hu X, Chandy KG et al. Transmission disequilibrium analysis of a triplet repeat within the hKCa3 gene using family trios with schizophrenia. Biochem. Biophys. Res. Commun. 251, 662-665 (1998).
40. Wittekindt O, Schwab SG, Burgert E et al. Association between hSKCa3 and schizophrenia not confirmed by transmission disequilibrium test in 193 offspring/parents trios. Mol. Psychiatry 4, 267-270 (1999).
41. Antonarakis SE, Blouin JL, Lasseter VK et al. Lack of linkage or association between schizophrenia and the polymorphic trinucleotide repeat within the KCNN3 gene on chromosome 1q21. Am. J. Med Genet. 88, 348-351 (1999).
42. Bonnet-Brilhault F, Laurent C, Campion D et al. No evidence for involvement of KCNN3 (hSKCa3) potassium channel gene in familial and isolated cases of schizophrenia. Eur. J. Hum. Genet. 7, 247-250 (1999).
43. Guy CA, Bowen T, Williams N et al. No association between a polymorphic CAG repeat in the human potassium channel gene hKCa3 and bipolar disorder. Am. J. Med. Genet. 88, 57-60 (1999).
44. McInnis MG, Breschel TS, Margolis RL et al. Family-based association analysis of the hSKCa3 potassium channel gene in bipolar disorder. Mol. Psychiatry 4, 217-219 (1999).
45. Hawi Z, Mynett-Johnson L, Murphy V et al. No evidence to support the association of the potassium channel gene hSKCa3 CAG repeat with schizophrenia or bipolar disorder in the Irish population. Mol. Psychiatry 4, 488-491 (1999).
46. Cardno AG, Bowen T, Guy CA et al. CAG repeat length in the hKCa3 gene and symptom dimensions in schizophrenia. Biol. Psychiatry 45, 1592-1596 (1999).
47. Ritsner M, Modai I, Ziv H et al. An association of CAG repeats at the KCNN3 locus with symptom dimensions of schizophrenia. Biol. Psychiatry 51, 788-794 (2002).
48. 3H]SKF-10047 to etorphine-inaccessible sites in guinea-pig brain. J. Pharmacol. Exp. Ther. 223, 284-290 (1982).
49. 3H]YM-09151-2 (nemonapride), a potent radioligand for both sigma 1 and sigma 2 receptor subtypes. Neuroreport 7, 1057-1061 (1996).
50. Davidson J, Miller R, Wingfield M et al. The first clinical study of BW-234U in schizophrenia. Psychopharmacol. Bull. 18, 173-176 (1982).
51. Gewirtz GR, Gorman JM, Volavka J et al. BMY 14802, a sigma receptor ligand for the treatment of schizophrenia. Neuropsychopharmacology 10, 37-40 (1994).
52. Muller MJ, Grunder G, Wetzel H et al. Antipsychotic effects and tolerability of the sigma ligand EMD 57445 (panamesine) and its metabolites in acute schizophrenia: an open clinical trial. Psychiatry Res. 89, 275-280 (1999).
53. Ujike H, Kanzaki A, Okumura K et aL Sigma (sigma) antagonist BMY 14802 prevents methamphetamine-induced sensitization. Life Sci. 50, PL-129-PL-134 (1992).
54. Ujike H, Kuroda S, Otsuki S. Sigma receptor antagonists block the development of sensitization to cocaine. Eur. J. Pharmacol. 296, 123-128 (1996).
55. Okuyama S, Ogawa S, Nakazato A et al. Effect of NE-100, a novel sigma receptor ligand, on phencyclidine-induced delayed cognitive dysfunction in rats. Neurosci. Lett. 189, 60-62 (1995).
56. 3H]ditolylguanidine binding to human brain sigma sites is diminished after haloperidol treatment. Eur. J. Pharmacol. 194, 235-236 (1991).
57. Weissman AD, Casanova MF, Kleinman JE et al. Selective loss of cerebral cortical sigma but not PCP binding sites in schizophrenia. Biol. Psychiatry 29, 41-54 (1991).
58. Kekuda R, Prasad PD, Fei YJ et al. Cloning and functional expression of the human Type 1 sigma receptor (hSigmaR1). Biochem. Biophys. Res. Commun. 229, 553-558 (1996).
59. Prasad PD, Li HW, Fei YJ et al. Exonintron structure, analysis of promoter region and chromosomal localization of the human Type 1 sigma receptor gene. J. Neurochem. 70, 443-451 (1998).
60. Ishiguro H, Ohtsuki T, Toru M et al. Association between polymorphisms in the Type 1 sigma receptor gene and schizophrenia. Neurosci. Lett. 257, 45-48 (1998).
61. Ohmori O, Shinkai T, Suzuki T et al. Polymorphisms of the sigma(1) receptor gene in schizophrenia: An association study. Am. J. Med. Genet. 96, 118-122 (2000).
62. Song W, Nadeau P, Yuan M et al. Proteolytic release and nuclear translocation of Notch-1 are induced by presenilin-1 and impaired by pathogenic presenilin-1 mutations. Proc. Natl Acad. Sci. USA 96, 6959-6963 (1999).
63. Sestan N, Artavanis-Tsakonas S, Rakic P. Contact-dependent inhibition of cortical neurite growth mediated by notch signaling. Science 286, 741-746 (1999).
64. Joutel A, Corpechor C, Ducros A et al. Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia. Nature 383, 707-710 (1996).
65. Wei J, Hemmings GP. The NOTCH4 locus is associated with susceptibility to schizophrenia. Nat. Genet. 25, 376-377 (2000).
66. Ujike H, Takehisa Y, Takaki M et al. NOTCH4 gene polymorphism and susceptibility to schizophrenia and schizoaffective disorder. Neurosci. Lett. 301, 41-44 (2001).
67. Sklar P, Schwab SG, Williams NM et al. Association analysis of NOTCH4 loci in schizophrenia using family and population-based controls. Nat. Genet. 28, 126-128 (2001).
68. McGinnis RE, Fox H, Yates P et al. Failure to confirm NOTCH4 association with schizophrenia in a large population-based sample from Scotland. Nat. Genet. 28, 128-129 (2001).
69. Hollister LE. Health aspects of cannabis. Pharmacol. Rev. 38, 1-20 (1986).
70. Andreasson S, Allebeck P, Engstrom A et al. Cannabis and schizophrenia. A longitudinal study of Swedish conscripts. Lancet 2, 1483-1486 (1987).
71. Ujike H, Takaki M, Nakata K et al. CNR1, central cannabinoid receptor gene, associated with susceptibility to hebephrenic schizophrenia. Mol. Psychiatry 7, 515-518 (2002). First genetic evidence for cannabinoid hypothesis of schizophrenia.
72. Tsai SJ, Wang YC, Hong CJ. Association study of a cannabinoid receptor gene (CNR1) polymorphism and schizophrenia. Psychiatr. Genet. 10, 149-151 (2000).
73. Di Matzo V, Melck D, Bisogno T et al. Endocannabinoids: endogenous cannabinoid receptor ligands with neuromodulatory action. Trends Neurosci. 21, 521-528 (1998).
74. 3H]CP-55940 binding in the human central nervous system: regional specific changes in density of cannabinoid-1 receptors associated with schizophrenia and cannabis use. Neuroscience 103, 9-15 (2001).
75. Hamajima N, Matsuda K, Sakata S et al. A novel gene family defined by human dihydropyrimidinase and three related proteins with differential tissue distribution. Gene 180, 157-163 (1996).
76. Koyama K, Sudo K, Nakamura Y. Isolation of 115 human chromosome 8-specific expressed-sequence tags by exon amplification. Genomics 26, 245-253 (1995).
77. Johnston-Wilson NL, Sims CD, Hofmann JP et al. Disease-specific alterations in frontal cortex brain proteins in schizophrenia, bipolar disorder and major depressive disorder. The Stanley Neuropathology Consortium. Mol. Psychiatry 5, 142-149 (2000).
78. Nakata K, Ujike H, Sakai A et al. The human dihydropyriminidase-related protein 2 gene on chromosome 8p21 is associated with paranoid-type schizophrenia. Biol. Psychiatry (In Press). First evidence of DRP-2 gene as a negative risk factor for schizophrenia.
79. Murphy KC. Schizophrenia and velocardio-facial syndrome. Lancet 359, 426-430 (2002).
80. Karayiorgou M, Morris MA, Morrow B et al. Schizophrenia susceptibility associated with interstitial deletions of chromosome 22q11. Proc. Natl. Acad. Sci. USA 92, 7612-7616 (1995).
81. Bassett AS, Chow EW. 22q11 deletion syndrome: a genetic subtype of schizophrenia. Biol. Psyhiatry 46, 882-891 (1999). Good review of 22q11 DGS syndrome and schizophrenia.
82. Ujike H, Takehisa Y, Takaki M et al. Del/Ins polymorphism in DGCR6 gene in chromosome 22 and schizophrenia. Am. J. Med. Genet. 96, 532 (2000).
83. Liu H, Heath SC, Sobin C et al. Genetic variation at the 22q11 PRODH2/DGCR6 locus presents an unusual pattern and increases susceptibility to schizophrenia. Proc. Natl. Acad. Sci. USA 99, 3717-3722 (2002). First report of an association between PRODH2 gene and schizophrenia.
84. Jacquet H, Raux G, Thibaut F et al. PRODH mutadons and hyperprolinemia in a subset of schizophrenic patients. Hum. Mol. Genet. 11, 2243-2249 (2002).
85. St Clair D, Blackwood D, Muir W et al. Association within a family of a balanced autosomal translocation with major mental illness. Lancet 336, 13-16 (1990).
86. Millar JK, Wilson-Annan JC, Anderson S et al. Disruption of two novel genes by a translocation co-segregating with schizophrenia. Hum Mol. Genet. 9, 1415-1423 (2000).
87. Ekelund J, Hovatta I, Parker A et al. Chromosome 1 loci in Finnish schizophrenia families. Hum. Mol. Genet. 10, 1611-1617 (2001). First positive linkage study for DISC-1 gene and schizophrenia.
88. Straub RE, Jiang Y, MacLean CJ et al. Genetic variation in the 6p22.3 gene DTNBP1, the human ortholog of the mouse dysbindin gene, is associated with schizophrenia. Am. J. Hum. Genet. 71, 337-348 (2002).
89. Stefansson H, Sigurdsson E, Steinthorsdottir V et al. Neuregulin 1 and susceptibility to schizophrenia. Am. J. Hum. Genet. 71, 877-892 (2002).