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	Stober, G., 2006 PMID: 17042887
Citation	Stober, G., J. Sprandel, et al. (2006). "Association study of 5'-UTR polymorphisms of the human dopamine transporter gene with manic depression." Bipolar Disord 8(5 Pt 1): 490-495.
Disease Type	Bipolar Disorder
Study Design	case-control
Study Type	Candidate-gene association study
Sample Size	105 index cases and 199 controls
SNP/Region/Marker Size	5 variants
Predominant Ethnicity	Caucasian
Population	German
Gender	50 male cases and 120 male controls
Age Group	adults : a mean age at first hospitalization of 39.9 years (SD 15.2), and an age at assessment of 48.2 years (SD 15.2).

Detail Info

Sample Diagnosis	DSM IV, ICD 10 and the more restricted criteria of manic depression in differentiated psychopathology
Sample Status	The index cases were recruited at the Department of Psychiatry and Psychotherapy at the University of Wurzburg. In 39% (n=41) of cases, a first-degree relative was recorded as having been hospitalized for affective disorder.
Technique	Polymerase chain reaction-based restriction fragment length polymorphism (RFLP) assays were used to investigate the frequency of the respective variants.
Statistical Method	Fisher's exact test as implemented in SAS was used to compare the distribution of alleles and genotypes at each polymorphic site and the distribution of 5-locus genotypes between cases and controls. This program allows haplotype frequencies to be compared between cases and controls by a permutation-based chi-square test.
Result Summary	At the 5'-UTR locus of hSLC6A3, no significant allelic or genotypic differences were observed between index cases and controls. However, distinct 5-locus genotypes accumulated in subjects with bipolar affective disorder compared to control subjects (p = 0.029, odds ratio 1.84, 95% confidence interval 1.12-3.02). In conclusion, our data do not provide evidence for a major role of the 5'-UTR of the dopamine transporter gene in bipolar affective disorder. A minor contribution of distinct genotypes may be possible and warrants replication in extended samples.

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

SNP	Related Gene(s)	Allele Change	Risk Allele	Statistical Values	Author Comments	Result Category
rs6413429	SLC6A3	T>G		allelic P-value = 0.06, genotypic P-value = 0.22	At the 5'-UTR locus of hSLC6A3, no significant allelic or ge...... At the 5'-UTR locus of hSLC6A3, no significant allelic or genotypic differences were observed between index cases and controls. More...	Negative
rs2652511	SLC6A3	C>T		allelic P-value = 0.23, genotypic P-value = 0.35	At the 5'-UTR locus of hSLC6A3, no significant allelic or ge...... At the 5'-UTR locus of hSLC6A3, no significant allelic or genotypic differences were observed between index cases and controls. More...	Negative
rs2975226	SLC6A3	T>A		allelic P-value = 0.10, genotypic P-value = 0.12	At the 5'-UTR locus of hSLC6A3, no significant allelic or ge...... At the 5'-UTR locus of hSLC6A3, no significant allelic or genotypic differences were observed between index cases and controls. More...	Negative
rs2617596	SLC6A3	C>G		allelic P-value = 0.55, genotypic P-value = 0.12	At the 5'-UTR locus of hSLC6A3, no significant allelic or ge...... At the 5'-UTR locus of hSLC6A3, no significant allelic or genotypic differences were observed between index cases and controls. More...	Negative

Other variants reported by this study for BD (count: 1)

Variant Name	Related Gene	Type	Allele Change	Risk Allele	Statistical Values	Author Comments	Result Category
SLC6A3 1436209 C>G	SLC6A3	point mutation	C>G		allelic P-value = 0.56, genotypic P-value = 0.84	At the 5'-UTR locus of hSLC6A3, no significant allelic or ge...... At the 5'-UTR locus of hSLC6A3, no significant allelic or genotypic differences were observed between index cases and controls. More...	Negative

Genes reported by this study for BD (count: 1)