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	Bocchetta, A.,1999 PMID: 10490710
Citation	Bocchetta, A., M. P. Piccardi, et al. (1999). "Family-based association study between bipolar disorder and DRD2, DRD4, DAT, and SERT in Sardinia." Am J Med Genet 88(5): 522-526.
Disease Type	Bipolar Disorder
Study Design	family-based
Study Type	Candidate-gene association study
Sample Size	53 Probands
SNP/Region/Marker Size	4 variants
Predominant Ethnicity	Caucasian
Population	Italian
Gender	22 males and 33 females
Age Group	Adults : Mean age onset is 22.7 years(SD = 6.6) .

Detail Info

Sample Diagnosis	DSM
Sample Status	Bipolar patients were identified from among outpatients affected by recurrent affective disorder attending the Center of Clinical Psychopharmacology of the Department of Neurosciences, University of Cagliari, for the management of lithium and related treatments. From a total of 386 outpatients who had been seen at least once from 1993 to 1997, 267 met the Diagnostic and Statistical Manual of Mental Disorders (DSM-IV)[American Psychiatric Association, 1994] criteria for bipolar disorder. Of the latter, 53 had both biological parents available, were of Sardinian ancestry, and were thus considered eligible for the present study.
Technique	Genotyping
Statistical Method	Statistical analysis was performed using the TDT approach [Spielman et al., 1993]. Data were analyzed using the computer program ETDT version 1.1 [Sham and Curtis, 1995a]. ETDT provides a single statistic per marker but individual alleles are also analyzed. In addition, we performed Monte Carlo simulations according to Sham and Curtis [1995b].
Result Summary	In this family-based association study of DRD2, DRD4, DAT, and SERT, the distribution of parental nontransmitted alleles was compared with that of alleles transmitted to 53 Sardinian probands suffering from bipolar disorder. The transmission disequilibrium test (TDT) was used to detect any disproportionate transmission of alleles by heterozygous parents to affected children. No differences were found between the allele distribution of polymorphisms at DRD2, DRD4, DAT, and SERT in probands and parental nontransmitted chromosomes. TDT did not reveal any difference between transmitted and nontransmitted alleles. Our results do not support the hypothesis of a role for DRD2, DRD4, DAT, or SERT in bipolar disorder. Previously reported positive associations between DRD2 or SERT and bipolar disorder were conceivably due to stratification dependent on the case-control design, even though our sample might have failed to detect small associations due to limited power.

Other variants reported by this study for BD (count: 4)

Variant Name	Related Gene	Type	Allele Change	Risk Allele	Statistical Values	Author Comments	Result Category
SERT VNTR	SLC6A4	VNTR	multi-alleles		TDT:for allele 12,passed/not passed=25/19,chi square=0.82,P-value=0.37;for allele 10,passed/not passed=18/25,chi square=1.14,P-value=0.29;for allele ,passed/not passed=/,chi square=,P-value=	Using TDT, no significant differences were found with regard...... Using TDT, no significant differences were found with regard to DRD4, DRD2, DAT, and SERT polymorphism. More...	Negative
DRD4 exon3 VNTR	DRD4	VNTR	multi-alleles		TDT:for allele 2,passed/not passed=10/10,chi square=0,P-value=1;for allele 4,passed/not passed=15/18,chi square=0.27,P-value=0.6;for allele 7,passed/not passed=12/8,chi square=0.8,P-value=0.37	Using TDT, no significant differences were found with regard...... Using TDT, no significant differences were found with regard to DRD4, DRD2, DAT, and SERT polymorphism. More...	Negative
DAT 40bp repeat	SLC6A3	duplication	multi-alleles		TDT:for allele 10,passed/not passed=21/19,chi square=0.1,P-value=0.75;for allele 9,passed/not passed=20/22,chi square=0.09,P-value=0.76;for allele ,passed/not passed=/,chi square=,P-value=	Using TDT, no significant differences were found with regard...... Using TDT, no significant differences were found with regard to DRD4, DRD2, DAT, and SERT polymorphism. More...	Negative
DRD2 intron 1 (TG)n	DRD2	duplication	multi-alleles		TDT:for allele 1,passed/not passed=9/12,chi square=0.43,P-value=0.51;for allele 2,passed/not passed=18/17,chi square=0.03,P-value=0.87;for allele 3,passed/not passed=8/7,chi square=0.07,P-value=0.8;for allele 4,passed/not passed=8/7,chi square=0.07,P-value=0.8	Using TDT, no significant differences were found with regard...... Using TDT, no significant differences were found with regard to DRD2 polymorphism. More...	Negative

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

Gene	Statistical Values/Author Comments	Result Category
SLC6A4	Using TDT, no significant differences were found with regard to DRD4, DRD2, DAT, and SERT polymorphi...... Using TDT, no significant differences were found with regard to DRD4, DRD2, DAT, and SERT polymorphism. More...	Negative
SLC6A3	Using TDT, no significant differences were found with regard to DRD4, DRD2, DAT, and SERT polymorphi...... Using TDT, no significant differences were found with regard to DRD4, DRD2, DAT, and SERT polymorphism. More...	Negative
DRD4	Using TDT, no significant differences were found with regard to DRD4, DRD2, DAT, and SERT polymorphi...... Using TDT, no significant differences were found with regard to DRD4, DRD2, DAT, and SERT polymorphism. More...	Negative
DRD2	Using TDT, no significant differences were found with regard to DRD2 polymorphism. Using TDT, no significant differences were found with regard to DRD2 polymorphism.	Negative