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Titolo:
GABA-A receptor beta 3 and alpha 5 subunit gene cluster on chromosome 15q11-q13 and bipolar disorder: A genetic association study
Autore:
Papadimitriou, GN; Dikeos, DG; Karadima, G; Avramopoulos, D; Daskalopoulou, EG; Stefanis, CN;
Indirizzi:
Univ Athens, Sch Med, Dept Psychiat, Clin & Mol Neurogenet Unit,Eginition Hosp, Athens 11528, Greece Univ Athens Athens Greece 11528 nit,Eginition Hosp, Athens 11528, Greece Univ Athens, Sch Med, Mental Hlth Res Inst, Clin & Mol Neurogenet Unit,Eginition Hosp, Athens 11528, Greece Univ Athens Athens Greece 11528 nit,Eginition Hosp, Athens 11528, Greece
Titolo Testata:
AMERICAN JOURNAL OF MEDICAL GENETICS
fascicolo: 4, volume: 105, anno: 2001,
pagine: 317 - 320
SICI:
0148-7299(20010508)105:4<317:GRB3AA>2.0.ZU;2-J
Fonte:
ISI
Lingua:
ENG
Soggetto:
GAMMA-AMINOBUTYRIC-ACID; GABAERGIC NEUROTRANSMISSION; LINKAGE-DISEQUILIBRIUM; REPEAT POLYMORPHISM; AUTISTIC DISORDER; MOOD DISORDERS; PLASMA GABA; ILLNESS; GABRB3; HYPOTHESIS;
Keywords:
association study; gamma-aminobutyric acid (GABA); GABA-A receptor beta 3 subunit gene (GABRB3); chromosome 15; bipolar affective disorder;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
33
Recensione:
Indirizzi per estratti:
Indirizzo: Papadimitriou, GN Univ Athens, Sch Med, Dept Psychiat, Clin & Mol Neurogenet Unit,Eginition Hosp, 72 Vas Sofias Ave, Athens 11528, Greece Univ Athens72 Vas Sofias Ave Athens Greece 11528 reece
Citazione:
G.N. Papadimitriou et al., "GABA-A receptor beta 3 and alpha 5 subunit gene cluster on chromosome 15q11-q13 and bipolar disorder: A genetic association study", AM J MED G, 105(4), 2001, pp. 317-320

Abstract

There is accumulated evidence that the genes coding for the receptor of gamma aminobutyric acid (GABA), the most important inhibitory neurotransmitter in the CNS, may be involved in the pathogenesis of affective disorders. In a previous study, we have found a genetic association between the GABA-A receptor alpha5 subunit gene locus (GABRA5) on chromosome 15q11-q13 and bipolar affective disorder, The aim of the present study was to examine the same subjects to see if there exists a genetic association between bipolar affective disorder and the GABA receptor beta3 subunit gene (GABRB3), which is located within 100 kb from GABRA5, The sample consisted of 48 bipolar patients compared to 44 controls (blood donors), All subjects were Greek, unrelated, and personally interviewed, Diagnosis was based on DSM-IV and ICD-IOcriteria, The marker used was a dinucleotide (CA) repeat polymorphism with12 alleles 179 to 201 bp long; genotyping was successful in all patients and 43 controls. The distribution of GABRB3 genotypes among the controls didnot deviate significantly from the Hardy-Weinberg equilibrium, No differences in allelic frequencies between bipolar patients and controls were foundfor GABRB3, while this locus and GABRA5 did not seem to be in significant linkage disequilibrium, In conclusion, the GABRB3 CA-repeat polymorphism weinvestigated does not present the observed association between bipolar affective illness and GABRA5. This could be due to higher mutation rate in theGABRB3 CA-repeat polymorphism, but it might also signify that GABRA5 is the gene actually associated with the disease. (C) 2001 Wiley-Liss, Inc.

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Documento generato il 10/07/20 alle ore 03:00:31