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	Oruc, L., 1997 (b) PMID: 9342201
Citation	Oruc, L., G. R. Verheyen, et al. (1997). "Association analysis of the 5-HT2C receptor and 5-HT transporter genes in bipolar disorder." Am J Med Genet 74(5): 504-506.
Disease Type	Bipolar I Disorder
Study Design	case-control
Study Type	Candidate-gene association study
Sample Size	42 patients with bipolar disorder type I (BPI) and 40 healthy controls
SNP/Region/Marker Size	2 polymorphisms
Predominant Ethnicity
Population	Croatian
Gender	25 females and 17 males
Age Group	adults : 31-70 years

Detail Info

Sample Diagnosis	Research Diagnostic Criteria (RDC)
Sample Status	Forty-two unrelated patients with BP disorder type I (BPI) were recruited among in- and outpatients of the REBRO and Vrapce psychiatric hospitals in Zagreb, Croatia. Those who fulfilled Research Diagnostic Criteria (RDC) for BPI disorder were included. The mean age at onset was 31.7, SD=5.7 years. In our sample, 16 BPI patients had a positive family history as defined by at least one first-degree relative suffering from major affective disorders.
Technique	PCR amplification
Statistical Method	Hardy-Weinberg equilibrium within our populations was confirmed, using an exact test. The statistical significance of differences in specific allele and genotype frequencies, as well as homozygote/heterozygote frequencies between patient and control populations, was calculated using Fisher's exact test (two-sided).
Result Summary	No significant associations were found in the total patient sample. However, when the individuals were divided according to gender, trends for association with both polymorphisms (P = 0.051 for 5-HTR2c and P = 0.049 for 5-HTT) in female patients were observed. These results suggest that variations in these genes may be responsible for a minor increase in susceptibility for bipolar disorder in women.

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
5-HTR2C RFLP	HTR2C	SNP			Fisherâ€™s exact test, allelic P-value=0.071, genotypic P-value=0.051 for females, allelic P-value=0.092, genotypic P-value=0.092 for males; combined allelic P-value=0.426, genotypic P-value=0.407 of C,C or C, P-value=0.068 of C,S, P-value=0.112 of S,S or S	In this study we found no significant association of the RFL...... In this study we found no significant association of the RFLP polymorphism in the 5-HTR2c receptor gene with BPI disorder in the total patient sample. More...	Negative
5-HTT PstI RFLP	SLC6A4	SNP			Fisherâ€™s exact test, allelic P-value=0.049, genotypic P-value=0.081 for females, allelic P-value=0.413, genotypic P-value=0.384 for males; combined allelic P-value=0.303, genotypic P-value=0.407	We also did not find any significant association of the PstI...... We also did not find any significant association of the PstI RFLP polymorphism in the 5-HTT gene and BPI disorder. More...	Negative

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

Gene	Statistical Values/Author Comments	Result Category
HTR2C	These results suggest that variations in these genes may be responsible for a minor increase in susc...... These results suggest that variations in these genes may be responsible for a minor increase in susceptibility for bipolar disorder in women. More...	Negative
SLC6A4	These results suggest that variations in these genes may be responsible for a minor increase in susc...... These results suggest that variations in these genes may be responsible for a minor increase in susceptibility for bipolar disorder in women. More...	Negative