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	Perez de Castro, I.,1995 PMID: 7760324
Citation	Perez de Castro, I., J. Santos, et al. (1995). "A weak association between TH and DRD2 genes and bipolar affective disorder in a Spanish sample." J Med Genet 32(2): 131-134.
Disease Type	Bipolar Disorder
Study Design	case-control
Study Type	Candidate-gene association study
Sample Size	64 cases and 49 controls
SNP/Region/Marker Size	2 STRs
Predominant Ethnicity	Caucasian
Population	Spainish
Gender	27 males, 37 females in cases and 24 males, 25 females in controls
Age Group	adults : Cases: mean age 47.1 years (SD=15.4); Controls: mean age 40.2 years (SD=12.4).

Detail Info

Sample Diagnosis	DSM-III-R
Sample Status	All patients were diagnosed using the DSM-III-R criteria on the basis of a structured interview, the Structured Clinical Interview for DSM-III-R (SCID) without knowledge of genotypes.All bipolar probands met Research Diagnostic Criteria (RDC) for bipolar I (45 subjects) and bipolar II (19 subjects). The patients with schizoaffective disorder were not included in the study. Thirty-three patients had a family history of affective disorder. Forty-nine unrelated subjects without affective disorder in their family history were recruited. All patients and controls were ethnically white and living in central Spain.
Technique	PCR and electrophoresis
Statistical Method	chi-square tests
Result Summary	Significant differences were obtained by comparing the distribution of TH and DRD2 alleles between patients and controls as deduced from the 2 x 5 contigency table for TH X² = 9.55, df = 4, P-value<0.05. Specially for the th10 allele, the th10 allele of the TH gene was significantly more frequent in patients (0.358) than in controls (0.208) (X² = 5.81, df = 1, P-value = 0.015); And from the 2 x 4 contingency table for DRD2 (X² = 8.93, df = 3, P-value<0.05). The frequencies of the C3 allele of DRD2 gene were significantly higher in patients (0.696) than in controls (0.489) (X² = 8.62, df = 1, P-value = 0.029).However, the relative risk of the C3 and the th10 alleles was not significant (p-value = 0.086 and p-value = 0.15, respectively) after multiple correction.

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
DRD2 (TG)n	DRD2	duplication		C3 allele	X² = 8.93, df = 3, P-value<0.05	Result suggested a association of this variant with BD Result suggested a association of this variant with BD	Positive
TH (CATT)n	TH	duplication		10 allele	X² = 9.55, df = 4, P-value<0.05	Result suggested a association of this variant with BD Result suggested a association of this variant with BD	Positive

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

Gene	Statistical Values/Author Comments	Result Category
DRD2	X<sup>2</sup> = 8.93, df = 3, P-value<0.05. The frequencies of the C3 allele of DRD2 gene were significantly higher in patients (0.696) than in controls (0.489) (X<sup>2</sup> = 8.62, df = 1, P-value = 0.029). After multiple correction, the C3 allele p-value = 0.086. A weak association between DRD2 gene and bipolar affective disorder is suggested A weak association between DRD2 gene and bipolar affective disorder is suggested	Positive
TH	X<sup>2</sup> = 9.55, df = 4, P-value<0.05. Specially for the th10 allele, the th10 allele of the TH gene was significantly more frequent in patients (0.358) than in controls (0.208) (X<sup>2</sup> = 5.81, df = 1, P-value = 0.015). After multiple correction, the th10 allele p-value = 0.15). A weak association between TH gene and bipolar affective disorder is suggested A weak association between TH gene and bipolar affective disorder is suggested	Positive