BDgene

Core Gene from Gene Prioritization Pathways from PBA (Pathway-based Analysis) Enriched Pathways for Core Genes Enriched Pathways for Cross-disorder Genes

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Study Report

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Basic Info

Reference	Otani, K.,2005(a) PMID: 15882799
Citation	Otani, K., H. Ujike, et al. (2005). The GABA type A receptor alpha5 subunit gene is associated with bipolar I disorder. Neurosci Lett 381(1-2): 108-113.
Disease Type	Bipolar Disorder
Study Design	case-control
Study Type	Candidate-gene association study
Sample Size	171 unrelated patients with bipolar disorders(128 with BPI,43 with BPII) and 298 unrelated controls
SNP/Region/Marker Size	5 polymorphisms
Predominant Ethnicity	Mongloid
Population	Japanese
Gender	Male/Female:86/85 in BP patients(72/56 in BPI patients and 14/29 in BPII) and 153/145 in controls
Age Group	Adults : Mean age(SD)(year):52.5(13.7) in BP patients(52.1(14.1) in BPI patients and 53.6(12.6) in BPII) and 51.8(14.9) in controls

Detail Info

Sample Diagnosis	DSM
Sample Status	All patients were outpatients or inpatients registered in psychiatry hospitals in Okayama prefecture (Okayama University Graduate School of Medicine and Dentistry, Zikei Hospital, Sekizen Hospital,Kibougaoka Hospital), Hyogo prefecture (Takaoka Hospital,Ako-Jinsen Hospital), Hiroshima prefecture (Yuai Hospital,Aoyama Hospital, Joge-Yugaoka Hospital), Kagawa prefecture(Eiko Hospital, Mifune Hospital), and Shimane prefecture(Nishikawa Hospital), which are located in mid-western Japan. The diagnosis of bipolar disorder was evaluated by two trained psychiatrists according to the DSM-IV criteria on the basis of interviews and medical records. Control subjects were recruited mainly from medical staff who had no past or present history of major psychiatric disorders, including bipolar disorder.
Technique	genotyping
Statistical Method	The statistical significance of all associations was assessed using standard contingency table analysis and the Chi-square test. For the CA repeat polymorphism, p values were obtained using Monte-Carlo simulations, as implemented in the CLUMP program. The pair-wise linkage disequilibrium was calculated using the Chi-square test, based on the differences between the observed and expected numbers of haplotypes. Haplotype frequencies were estimated using the EH program and the SNPAlyze program (DynacomCo., Japan).
Result Summary	Five polymorphisms in the GABRA5 gene, -754C>T in the promoter region, IVS1-21G>A, IVS2-26T>A, (*)302C>T in 3'-UTR of exon 5, and a CA repeat polymorphism in the 3' flanking region were examined in a Japanese population. IVS1-21G>A exhibited significant differences in the distribution of the genotype and allele frequency in bipolar I disorder patients but not in bipolar II disorder patients, compared with control subjects. The haplotype analysis showed that IVS1-21G>A/IVS2-26A>T was associated with bipolar I disorder, and the IVS1-21A/IVS2-26T haplotype was a negative risk factor for susceptibility to the disorders (odds ratio: 0.57, 95% confidence interval: 0.44-0.73). These results suggest that the GABRA5 gene may confer susceptibility to bipolar I disorder.

SNPs reported by this study for BD (count: 3)

SNP	Related Gene(s)	Allele Change	Risk Allele	Statistical Values	Author Comments	Result Category
rs6606854	GABRB3 GABRA5	C/T		Chi-square test: for BPD, genotype P-value = 0.66, allele P-value = 0.84; for BPD1, genotype P-value = 0.64, allele P-value = 0.45; for BPD2, genotype P-value = 0.43, allele P-value = 0.33	No significant association was observed. No significant association was observed.	Negative
rs140681	GABRB3 GABRA5	G/A		Chi-square test: for BPD, genotype P-value = 0.086, allele P-value = 0.084; for BPD1, genotype P-value = 0.02, allele P-value = 0.024; for BPD2, genotype P-value = 0.98, allele P-value = 0.87	Significant association was observed in BPD1. Significant association was observed in BPD1.	Positive
rs140683	GABRB3 GABRA5	T/A		Chi-square test: for BPD, genotype P-value = 0.59, allele P-value = 0.4; for BPD1, genotype P-value = 0.26, allele P-value = 0.12; for BPD2, genotype P-value = 0.64, allele P-value = 0.38	No significant associations were found in BD. No significant associations were found in BD.	Negative

Haplotypes reported by this study for BD (count: 4)

Markers	Haplotype	Related Gene(s)/Region(s)	Statistical Values	Author Comments	Result Category
rs140681 - rs140683	G-T	GABRA5	Haplotypic association:for BPD1, P-value > 0.05	No significant association was found . No significant association was found .	Negative
rs140681 - rs140683	A-T	GABRA5	Haplotypic association:for BPD1, chi square= 6.69, P-value = 0.039	Significant association was found in BPD1. Significant association was found in BPD1.	Positive
rs140681 - rs140683	G-A	GABRA5	Haplotypic association:for BPD1, P-value > 0.05	No significant association was found . No significant association was found .	Negative
rs140681 - rs140683	A-A	GABRA5	Haplotypic association:for BPD1, P-value > 0.05	No significant association was found . No significant association was found .	Negative

Other variants reported by this study for BD (count: 1)

Variant Name	Related Gene	Type	Allele Change	Risk Allele	Statistical Values	Author Comments	Result Category
GABRA5 +11547 (CA)n	GABRA5	microsatellite	(CA)n repeat		Chi-square test:for BPD, Chi-square=2.64, allele P-value = 0.85;for BPD1, Chi-square=2.14, allele P-value = 0.91;for BPD2, Chi-square=8.96, allele P-value = 0.13	No significant associations were found. No significant associations were found.	Negative

Genes reported by this study for BD (count: 1)