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	Vincent, J. B.,1999(a) PMID: 9892311
Citation	Vincent, J. B., M. Masellis, et al. (1999). "Genetic association analysis of serotonin system genes in bipolar affective disorder." Am J Psychiatry 156(1): 136-138.
Disease Type	Bipolar Disorder
Study Design	case-control
Study Type	Candidate-gene association study
Sample Size	Over 100 patients with bipolar affective disorder and their matched comparison subjects
SNP/Region/Marker Size	10 variants
Predominant Ethnicity	Caucasian
Population	Canadian
Gender	In both groups 57% (N = 59) of the subjects were female and 43% (N = 44) were male.
Age Group	Adults : The mean ages of the affected subjects and the comparison group were similar (mean = 39.16 years, SD = 10.83, and mean = 38.07 years, SD = 10.41, respectively; t = 0.73, df = 204, p = 0.46, two-tailed test).

Detail Info

Sample Diagnosis	RDC
Sample Status	Individuals with bipolar affective disorder were recruited from the Bipolar Clinic at The Clarke Institute of Psychiatry, Toronto. They met the Research Diagnostic Criteria for bipolar affective disorder as determined by interview with the Schedule for Affective Disorders and Schizophrenia-Lifetime Version. All of the bipolar subjects (N = 103) were classified as having bipolar affective disorder, type I. The comparison subjects were recruited from staff members at Case Western Reserve University, Cleveland, and the local community around The Clarke Institute and had no history of major psychiatric illness. They were closely matched pairwise to the unrelated bipolar subjects in age (Â± 5 years), sex, and detailed ethnic background, including preimmigration roots.95% were Caucasian, 3% Oriental, and 2% Native Canadian. All individuals in the comparison group were above the median age at onset for bipolar affective disorder (18 years for males, 20 years for females) and thus had largely passed through the age of risk for developing the disorder.
Technique	Genotyping
Statistical Method	chi-square tests (SPSS 7.0, Chicago)
Result Summary	Statistically significant positive associations were found for HTR2A and hSERT polymorphisms. However, results from an independent replication group of over 100 patients with bipolar affective disorder and their matched comparison subjects failed to confirm these associations. CONCLUSIONS: These results suggest that the serotonin genes studied are not associated with bipolar affective disorder, although transmission disequilibrium studies are required in order to confirm this conclusion.

Other variants reported by this study for BD (count: 10)

Variant Name	Related Gene	Type	Allele Change	Risk Allele	Statistical Values	Author Comments	Result Category
SERT insertion/deletion	SLC6A4	insertion/deletion	insertion/deletion		chi square test:chi square = 6.08,df = 2, P-value = 0.05;in replication study,chi square = 0.04,df = 2, P-value = 0.98	Statistically significant positive associations were found i...... Statistically significant positive associations were found in original Study. More...	Positive
SERT VNTR	SLC6A4	VNTR	multi-alleles		chi square test:chi square = 10.03,df = 4, P-value = 0.04;in replication study,chi square = 4.78,df = 5, P-value = 0.44	Statistically significant positive associations were found i...... Statistically significant positive associations were found in original Study. More...	Positive
TPH1 BfaI Polymorphism	TPH1	SNP			chi square test:chi square = 2.24,df = 2, P-value = 0.33	No significant differences were found in bipolar groups. No significant differences were found in bipolar groups.	Negative
HTR2A BbvI Polymorphism	HTR2A	SNP			chi square test:chi square = 1.58,df = 2, P-value = 0.45	No significant differences were found in bipolar groups. No significant differences were found in bipolar groups.	Negative
HTR2A MspI Polymorphism	HTR2A	SNP			chi square test:chi square = 9.58,df = 2, P-value = 0.01;in replication study,chi square = 1.51,df = 2, P-value = 0.47	Statistically significant positive associations were found i...... Statistically significant positive associations were found in original Study. More...	Positive
HTR7 XhoI Polymorphism	HTR7	SNP			chi square test:chi square = 0.51,df = 1, P-value = 0.48	No significant differences were found in bipolar groups. No significant differences were found in bipolar groups.	Negative
HTR2C HinfI Polymorphism	HTR2C	SNP			chi square test:chi square = 0.11,df = 1, P-value = 0.75;in replication study,chi square = 0.57,df = 2, P-value = 0.75	Statistically significant positive associations were found i...... Statistically significant positive associations were found in original Study. More...	Positive
HTR1A (CA)n/(GT)n 10	HTR1A	duplication	multi-alleles		chi square test:chi square = 3.22,df = 3, P-value = 0.36	No significant differences were found in bipolar groups. No significant differences were found in bipolar groups.	Negative
HTR1D TaqI Polymorphism	HTR1D	SNP			chi square test:chi square = 0.05,df = 1, P-value = 0.83	No significant differences were found in bipolar groups. No significant differences were found in bipolar groups.	Negative
HTR1D HincII Polymorphism	HTR1D	SNP			chi square test:chi square = 0.02,df = 2, P-value = 0.99	No significant differences were found in bipolar groups. No significant differences were found in bipolar groups.	Negative

Genes reported by this study for BD (count: 7)

Gene	Statistical Values/Author Comments	Result Category
HTR2A	Statistically significant positive associations were found in original Study. Statistically significant positive associations were found in original Study.	Positive
HTR1D	No significant differences were found in bipolar groups. No significant differences were found in bipolar groups.	Negative
HTR7	No significant differences were found in bipolar groups. No significant differences were found in bipolar groups.	Negative
HTR2C	Statistically significant positive associations were found in original Study. Statistically significant positive associations were found in original Study.	Positive
HTR1A	No significant differences were found in bipolar groups. No significant differences were found in bipolar groups.	Negative
TPH1	No significant differences were found in bipolar groups. No significant differences were found in bipolar groups.	Negative
SLC6A4	Statistically significant positive associations were found in original Study. Statistically significant positive associations were found in original Study.	Positive