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	Etain, B.,2004 PMID: 15274035
Citation	Etain, B., A. Rousseva, et al. (2004). "Lack of association between 5HT2A receptor gene haplotype, bipolar disorder and its clinical subtypes in a West European sample." Am J Med Genet B Neuropsychiatr Genet 129B(1): 29-33.
Disease Type	Bipolar Disorder
Study Design	case-control
Study Type	Candidate-gene association study
Sample Size	356 unrelated bipolar patients and 208 healthy controls
SNP/Region/Marker Size	2 variants
Predominant Ethnicity	Caucasian
Population	French and Swiss
Gender	158 men and 198 women for bipolar patients;92 men and 116 women for control subjects
Age Group	Adults : Mean age(SD)(year):43(13.75),26.3(11) at onset for BD patients and 43(8) for controls

Detail Info

Sample Diagnosis	DSM
Sample Status	We included consecutively admitted patients meeting DSMIIIR or DSM-IV criteria for bipolar disorder at five universityaffiliated psychiatry departments (Pitie_-Salpe_trie`re, Henri Mondor, and Charles Perrens Hospitals (France) and Lausanne and Geneva University Hospitals (Switzerland)). Familial history of mood disorders or suicide attempt among first-degree relatives was assessed using the French version of the Family Interview for Genetic Studies (interview of the proband and at least one first-degree relative, if possible).The healthy control group was recruited from blood donors at the Pitie_-Salpe_trie`re and Henri Mondor Hospitals (France). To minimise psychiatric morbidity among subjects in this group,only blood donors over the age of 35 years were included.Only controls free of personal and familial history of affective disorders and suicide attempt were included. All patients and controls had at least three European Caucasian grandparents.
Technique	PCR and RFLP
Statistical Method	Hardy-Weinberg equilibrium was assessed and genotypic and allelic frequencies compared between BPAD patients and controls by means of chi-squared tests. For contingency tables with small numbers of subjects (less than 5), exact probability was calculated by the Monte Carlo method, using CLUMP software [Sham and Curtis, 1995]. Haplotypic frequencies were estimated with E.H. software [Zhao et al., 2000].
Result Summary	We found no difference between BPAD patients and controls for allele, genotype and haplotype distributions. Exploratory analysis in subgroups of BPAD patients showed only a marginal difference in haplotype distribution between controls and BPAD patients with antidepressant-induced mania (P = 0.018). This difference was not significant after correction for multiple testing. Our study suggests that the 5HT2AR gene is unlikely to be involved in genetic susceptibility to BPAD but should be further investigated in a pharmacogenetic study.

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

Markers	Haplotype	Related Gene(s)/Region(s)	Statistical Values	Author Comments	Result Category
(HTR2A_-1438G/A) - (HTR2A_His452Tyr)		HTR2A	Haplotype analysis:P-value = 0.43	No significant association was observed in BD. No significant association was observed in BD.	Negative

Other variants reported by this study for BD (count: 2)

Variant Name	Related Gene	Type	Allele Change	Risk Allele	Statistical Values	Author Comments	Result Category
HTR2A -1438A/G	HTR2A	point mutation			Association analysis:genotype, chi square=0.96, df=2, P-value = 0.61 and allele, chi square=0.07, df=1, P-value = 0.78	No significant association was observed in BD. No significant association was observed in BD.	Negative
HTR2A His452Tyr	HTR2A	point mutation			Association analysis:genotype, chi square=2.14, df=2, P-value = 0.34 and allele, chi square=1.25, df=1, P-value = 0.26	No significant association was observed in BD. No significant association was observed in BD.	Negative

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