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	Muglia, P.,2002 PMID: 12232779
Citation	Muglia, P., A. Petronis, et al. (2002). "Dopamine D4 receptor and tyrosine hydroxylase genes in bipolar disorder: evidence for a role of DRD4." Mol Psychiatry 7(8): 860-866.
Disease Type	Bipolar Disorder
Study Design	family-based
Study Type	Candidate-gene association study
Sample Size	154 patients with bipolar disorder and their biological relatives that make up 145 nuclear families
SNP/Region/Marker Size	2 variants
Predominant Ethnicity
Population	Canadian
Gender	66.9% females
Age Group	Adults : mean age: 36.25 (SD = 9.48, range 13-62 years) and mean age of onset:18.54 (SD = 7.08; range 5-40 years).

Detail Info

Sample Diagnosis	DSM
Sample Status	The sample consisted of 154 patients with a DSM-IV diagnosis of bipolar disorder (104 Bipolar I; 40 Bipolar II; eight Schizoaffective bipolar type disorder; two Bipolar Disorder Not Otherwise Specified) and their biological relatives that make up 145 nuclear families.Nine of the families have two affected probands. The probands were predominantly (97%) of Caucasian origin. The patients were recruited from several psychiatric care centers in Toronto and across central Canada.
Technique	PCR
Statistical Method	Transmission Disequilibrium Test
Result Summary	An excess of transmissions and non transmissions was observed for the DRD4 4- and 2-repeat alleles respectively. The biased transmission showed a parent of origin effect (POE) since it was derived almost exclusively from the maternal meiosis (4-repeat allele maternally transmitted 40 times vs 20 times non-transmitted; chi(2) = 6.667; df = 1; P = 0.009; while paternally transmitted 26 times vs 21 times non-transmitted; chi(2) = 0.531; df = 1; P = 0.46). The analysis of TH did not reveal biased transmission of intron I VNTR alleles. Although replication of our study is necessary, the fact that DRD4 exhibit POE and is located on 11p15.5, in close proximity to a cluster of imprinted genes, suggests that genomic imprinting may be operating in bipolar disorder.

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
DRD4 exon3 VNTR	DRD4	VNTR	multi-allelic repeats		Association analysis:TDT, 4-repeat allele maternally transmitted 40 times vs 20 times non-transmitted; chi(2) = 6.667; df = 1; P-value = 0.009; while paternally transmitted 26 times vs 21 times non-transmitted; chi(2) = 0.531; df = 1; P-value = 0.46	An excess of transmissions and non transmissions was observe...... An excess of transmissions and non transmissions was observed for the DRD4 4- and 2-repeat alleles respectively. More...	Positive
TH VNTR	TH	VNTR	multi-allelic repeats		Association analysis:TDT, all P-value > 0.05	The analysis of TH did not reveal biased transmission of int...... The analysis of TH did not reveal biased transmission of intron I VNTR alleles. More...	Negative

Genes reported by this study for BD (count: 2)

Gene	Statistical Values/Author Comments	Result Category
TH	The analysis of TH did not reveal biased transmission of intron I VNTR alleles. The analysis of TH did not reveal biased transmission of intron I VNTR alleles.	Negative
DRD4	Although replication of our study is necessary, the fact that DRD4 exhibit POE and is located on 11p...... Although replication of our study is necessary, the fact that DRD4 exhibit POE and is located on 11p15.5, in close proximity to a cluster of imprinted genes, suggests that genomic imprinting may be operating in bipolar disorder. More...	Positive