An association study between two missense variations of the benzodiazepine receptor (peripheral) gene and schizophrenia in a Japanese sample

Journal of Neural Transmission

Volumn 107, Issue 4, 2000, Pages 491-500

  Kurumaji, A ^a   Nomoto, H ^a   Yoshikawa, T ^a,b   Okubo, Y ^a   Toru, M ^a  

^a TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

^b RIKEN BRAIN SCIENCE INSTITUTE   (Japan)

Author keywords

Association; Benzodiazepine receptor (peripheral); Missense; Restriction fragment length polymorphism; Schizophrenia; Single nucleotide polymorphism

Indexed keywords

BENZODIAZEPINE RECEPTOR; NEUROSTEROID;

ADULT; ARTICLE; AUTOPSY; BRAIN; CELL PROLIFERATION; CONTROLLED STUDY; DNA SEQUENCE; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION; GLIA CELL; HUMAN; JAPAN; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; PATHOPHYSIOLOGY; PRIORITY JOURNAL; RECEPTOR DENSITY; SCHIZOPHRENIA; STEROIDOGENESIS;

EID: 0034026099     PISSN: 03009564     EISSN: None     Source Type: Journal    
DOI: 10.1007/s007020070090     Document Type: Article

References (28)

1. Anholt RRH, Pedersen PL, De Souza EB, Snyder SH (1986) The peripheral-type benzodiazepine receptor-localization to the mitochondrial outer membrane. J Biol Chem 261: 576-583
2. Antkiewicz-Michaluk L, Guidotti A, Krueger KE (1988) Molecular characterization and mitochondrial density of a recognition site for peripheral-type benzodiazepine ligands. Mol Pharmacol 34: 272-278
3. Auta J, Romeo E, Kozikowski A, Ma D, Costa E, Guidotti A (1993) Participation of mitochondrial diazepam binding inhibitor receptors in the anticonflict, antineophobic and anticonvulsant action of 2-aryl-3-indoleactamide and imidazopyridinw derivaties. J Pharmacol Exp Ther 265: 649-656
4. Benavides J, Fage D, Carter C, Scatton B (1987) Peripheral type benzodiazepine binding sites are a sensitive indirect index of neuronal damage. Brain Res 421: 167-172
5. Coon H, Holik J, Hoff M, Reimherr F, Wender P, Myles-Worsley M, Merilyne W, Freedman R, Byerley W (1994) Analysis of chromosome 22 markers in nine schizophrenia pedigrees. Am J Hum Genet 57: 72-79
6. De Souza EB, Anholt RRH, Murphy KMM, Snyder SH, Kuhar MJ (1985) Peripheral-type benzodiazepine receptors in endocrine organs: autoradiographic localization in rat pituitary, adreal, and testeis. Endocrinology 116: 567-573
7. Farges R, Joseph-Liauzun E, Shire D, Caput D, Le Fur G, Loison G, Ferrara P (1993) Molecular basis for the different binding properties of benzodiazepines to human and bovine peripheral-type benzodiazepine receptors. FEBS 335: 305-308
8. Farges R, Joseph-Liauzun E, Shire D, Caput D, Le Fur G, Ferrara P (1994) Site-directed mutagenesis of the peripheral benzodiazepine receptor: identification of amino acids implicated in the binding site of Ro5-4864. Mol Pharmacol 46: 1160-1167
9. Itzhak Y, Baker L, Norenberg M (1993) Characterization of the peripheral-type benzodiazepine receptors in cultured astrocytes: evidence for multiplicity. Glia 9: 211-218
10. Joseph-Liauzun E, Farges R, Delmas P, Ferrara P, Loison G (1997) The Mr 18,000 subunit of the peripheral-type benzodiaepine receptor exhibits both benzodiazepine and isoquinoline carboxamide binding sites in the absence of the voltage-dependent anion channel or of the adenine nucleotide carrier. J Biol Chem 272: 28102-28106
11. Krueger KE, Papadopoulos V (1990) Peripheral-type benzodiazepine receptors mediate translocation of cholesterol from outer to inner mitochondrial membranes in adrenocortical cells. J Biol Chem 265: 15015-15022
12. Kurumaji A, Tom M (1996) Postnatal development of peripheral-type benzodiazepine receptors in rat brain and peripheral tissues. Dev Brain Res 97: 148-151
13. Kurumaji A, Wakai T, Toru M (1997) Decreases in peripheral-type benzodiazepine receptors in postmortem brains of chronic schizophrenics. J Neural Transm 104: 1361-1370
14. Lathrop GM, Lalouel JM, Julier C, Ott J (1984) Linkage utility program: strategies for multilocus linkage analysis in humans. Proc Natl Acad Sci 81: 3443-3446
15. Lin D, Chang YJ, Strauss JF, Miller WL (1993) The human peripheral benzodiazepine receptor gene: cloning and characterization of alternative splicing in normal tissues and in a patient with congenital lipoid adernal hyperplasia. Genomics 18: 643-650
16. A receptor. Mechanism of action and physiological significance. Prog Neurobiol 38: 379-395
17. McCauley LD, Park CH, Lan NC, Tomich JM, Shiverly JE, Gee KW (1995) Benzodiazepines and peptides stimulate pregnenolone synthesis in brain mitochondria. Eur J Pharmacol 276: 146-153
18. McEwen BS (1991) Non-genomic and genomic effects of steroids on neuronal activity. Trends Pharmacol 12: 141-147
19. Meßmer K, Reynolds GP (1998) Increased peripheral benzodiazepine binding sites in the brain of patients with Huntington's disease. Neurosci Lett 241: 53-56
20. Papadopoulos V (1998) Structure and function of the peripheral-type benzodiazepine receptor in steroidgenic cells. Proc Soc Exp Biol Med 217: 130-142
21. Papadopoulos V, Guarneri G, Krueger KE, Guidotti A (1992) Pregnenolone biosynthesis in C6-2B glioma cell mitochondria: regulation by a mitochondrial diazepam binding inhibitor receptor. Proc Natl Acad Sci USA 89: 5113-5117
22. 3H]RO5-4864 in human brain. Eur J Pharmacol 340: 89-99
23. Riond J, Mattei MG, Dumont X, Guillemot JC, Le Fur G, Caput D, Ferrara P (1991) Molecular cloning and chromosomal localization of a human peripheral-type benzodiazepine receptor. Eur J Biochem 195: 305-311
24. Schizophrenia Collaborative Linkage Group for Chromosome 22 (1998) A transmission disequilibrium and linkage analysis of D22S278 marker alleles in 574 families: further support for a susceptibility locus for schizophrenia at 22q12. Schizophr Res 32: 115-121
25. 3H]Ro-4864 benzodiazepine binding in the kainate lesioned striatum and Huntington's diseased basal ganglia. Brain Res 248: 396-401
26. Sham PC, Curtis D (1995) Monte-Carlo tests for association between disease and alleles at highly polymorphic loci. Ann Hum Genet 59: 97-105
27. Sprengel R, Werner P, Seeburg PH, Mukhin AG, Santi MR, Grayson DR, Guidotti A, Krueger KE (1989) Molecular cloning and expression of cDNA encoding a peripheral-type benzodiazepine receptor. J Biol Chem 264: 20415-20421
28. Stephenson DT, Schober DA, Smalstig EB, Mincy RE, Gehlert DR, Clemens JA (1995) Peripheral benzodiazepine receptors are colocalized with activated microglia following transient global forebrain ishchemia in the rat. J Neurosci 15: 5263-5274