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	Cohen-Woods, S.,2010 PMID: 20552676
Citation	Cohen-Woods, S., I. Craig, et al. (2010). "The Bipolar Association Case-Control Study (BACCS) and meta-analysis: No association with the 5,10-Methylenetetrahydrofolate reductase gene and bipolar disorder." Am J Med Genet B Neuropsychiatr Genet 153B(7): 1298-1304.
Disease Type	Bipolar Disorder
Study Design	case-control
Study Type	Candidate-gene association study
Sample Size	897 patients with bipolar I or bipolar II disorder, and 1,687 healthy control subjects
SNP/Region/Marker Size	1 variant
Predominant Ethnicity	Caucasian
Population	British and Canandian
Gender	319 men and 578 women in BD patients(for Canadian subjects:n=383 total, 143 men and 240 women, and for UK subjects :n=514 total, 176 men and 338 women) ;721 men and 966 women in control subjects(for the Canadian control group: n=311 total, 142 men and 169 women, and for the UK control group:n=1,376 total, 579 men and 797 women).
Age Group	Adults : Mean age(SD)(year):47.15(11.94) in BD patients(for Canadian subjects was 45.99 years (SD=12.54), and for UK subjects 48.02 years (SD=11.40)) and 42.07(13.17) in controls(for the Canadian control group was 43.66 years (13.12 years), and for the UK control group 41.70 years (13.16)).

Detail Info

Sample Diagnosis	DSM and ICD-10
Sample Status	Eight hundred ninety-seven individuals with BD were recruited from two sites: London, UK and Toronto, Canada. Age upon entry to study differed significantly between centers of ascertainment (t=2.526, P=0.012), gender did not (X²=0.916, P=0.360). The age of onset of disease was 21.28,SD=10.48.All were white and of European parentage, in an attempt to minimize population stratification effects. Subjects were only included if informed written consent to participate in the study was obtained. Exclusion criteria were: (1) first-degree relative having fulfilled criteria for schizophrenia; (2) psychotic symptoms that were mood incongruent or present when there was no evidence for mood disturbance; (3) intravenous drug use with a lifetime diagnosis of drug dependency; (4) mania or depression occurred solely in relation to, or a consequence of, alcohol or substance abuse/dependence and/or medical illness; (5) being related to an individual already included in the study. High inter-rater reliability for diagnosis was achieved with a mean kappa of 0.83. One thousand six hundred eighty-seven control individuals were recruited from two sites: London, UK and Toronto, Canada. Age upon entry to study differed significantly between centers of ascertainment (t=2.358, P=0.019), gender did not (X²=1.324, P=0.254).All controls subjects were White and of European parentage. Exclusion criteria were: (1) if they, or a firstdegree relative, ever fulfilled criteria for BD, depression or any other psychiatric disorder; (2) if they scored 10 or above on the Beck Depression Inventory [Beck and Steer, 1984]; (3) did not return consent; (4) failed to return cheek swabs or successfully give blood.
Technique	genotyping
Statistical Method	Chi-squared test
Result Summary	The distribution of GABRB3 genotypes among the controls did not deviate significantly from the Hardy-Weinberg equilibrium. No differences in allelic frequencies between bipolar patients and controls were found for GABRB3, while this locus and GABRA5 did not seem to be in significant linkage disequilibrium. In conclusion, the GABRB3 CA-repeat polymorphism we investigated does not present the observed association between bipolar affective illness and GABRA5. This could be due to higher mutation rate in the GABRB3 CA-repeat polymorphism, but it might also signify that GABRA5 is the gene actually associated with the disease.

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
MTHFR C677T	MTHFR	point mutation	C/T		Association analysis:Genotype distribution CC versus CT versus TT: X²=2.37, df=2, P-value = 0.31.Genotype distribution CC versus CT/TT: X²=0.96, df=1, P-value = 0.96; odds ratio=0.92 (0.78-1.09).Genotype distribution CC versus TT: X²=2.36, df=1, P-value = 0.12; odds ratio=0.81 (0.62-1.06).Allele distribution C versus T: X²=2.01, df=1, Cochran-Armitage P-value = 0.16; common odds ratio=0.9.	No significant association was observed in BD. No significant association was observed in BD.	Negative

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