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	Raybould, R.,2005 PMID: 15820225
Citation	Raybould, R., E. K. Green, et al. (2005). Bipolar disorder and polymorphisms in the dysbindin gene (DTNBP1). Biol Psychiatry 57(7): 696-701.
Disease Type	Bipolar I Disorder
Study Design	case-control
Study Type	Candidate-gene association study
Sample Size	726 bipolar I patients; 1407 ethnically matched controls.
SNP/Region/Marker Size	3 SNPs
Predominant Ethnicity	Caucasian
Population	British
Gender	38.2% male in bipolar I patients;52.4% in controls
Age Group	Adults : Mean age(SD)(year):47.7 (13.1)[mean age onset:26.2 (10.1)] in BPI patients,40.8 (12.5) in controls

Detail Info

Sample Diagnosis	DSM
Sample Status	All the cases used met DSM-IV (American Psychiatric Association 1994) criteria for bipolar I disorder and were recruited through mental health services in England and Wales.Consent was obtained for control subjects following local ethical approval guidelines. Family history of psychiatric illness in first or second degree relative:59.8%,Lifetime rapid cycling:12.4%,Lifetime occurrence of at least one psychotic symptom:63.4%, Psychotic symptoms occur in 50% or more of episodes of illness:18.3%,Predominantly mood incongruent psychotic features:21.6%,Lifetime occurrence of puerperal triggering of mood episodes:15.8%. Controls were all of Caucasian UK origin collected from two sources:The British Blood Transfusion Service (n=1298). The sample was not specifically screened for psychiatric illness but individuals were not taking regular prescribed medications.Family Practitioner Clinic (n=109). Individuals were recruitedfrom amongst those attending for nonpsychiatric reasons.This sample was screened to exclude a personal history of mood disorder.
Technique	genotyping
Statistical Method	Departure from Hardy-Weinberg equilibrium was tested using a X² goodness-of-fit test. Tests for differences between allele and haplotype frequencies were performed using UNPHASED 2.40 (Dudbridge 2003).
Result Summary	RESULTS: No significant differences were found in the distribution of the 3-locus haplotype in the full sample. Within the subset of bipolar I cases with predominantly psychotic episodes of mood disturbance (n = 133) we found nominally significant support for association at this haploptype (p < .042) and at SNP rs2619538 (p = .003), with a pattern of findings similar to that in our schizophrenia sample. This finding was not significant after correction for multiple testing. CONCLUSIONS: Our data suggest that variation at the polymorphisms examined does not make a major contribution to susceptibility to bipolar disorder in general. They are consistent with the possibility that DTNBP1 influences susceptibility to a subset of bipolar disorder cases with psychosis. However, our subset sample is small and the hypothesis requires testing in independent, adequately powered samples.

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

SNP	Related Gene(s)	Allele Change	Risk Allele	Statistical Values	Author Comments	Result Category
rs2619538	DTNBP1	T/A		Single-Marker Analysis: for all BPI, allele P-value = 0.360; for BPI with Psychotic Symptoms in 50% or More of Episodes, allele P-value = 0.004	No significant association was observed. No significant association was observed.	Negative
rs3213207	DTNBP1	G/A		Single-Marker Analysis: for all BPI, allele P-value = 0.829; for BPI with Psychotic Symptoms in 50% or More of Episodes, allele P-value = 0.475	No significant association was observed. No significant association was observed.	Negative
rs2619539	DTNBP1	G/C		Single-Marker Analysis: for all BPI, allele P-value = 0.999; for BPI with Psychotic Symptoms in 50% or More of Episodes, allele P-value = 0.415	No significant association was observed. No significant association was observed.	Negative

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

Markers	Haplotype	Related Gene(s)/Region(s)	Statistical Values	Author Comments	Result Category
rs2619539 - rs3213207 - rs2619538		DTNBP1	Haplotypic association:in BPI, for risk/protective/other, global P-value = 0.420; for six haplotypes, global P-value = 0.076; in BPI with Psychotic Symptoms in 50% or More of Episodes, for risk/protective/other, global P-value = 0.042; for six haplotypes, global P-value = 0.079	No significant association was found . No significant association was found .	Negative

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