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	Stopkova, P., 2004 (b) PMID: 15261714
Citation	Stopkova, P., J. Vevera, et al. (2004). "Analysis of SYNJ1, a candidate gene for 21q22 linked bipolar disorder: a replication study." Psychiatry Res 127(1-2): 157-161.
Disease Type	Bipolar Disorder
Study Design	case-control
Study Type	Candidate-gene association study
Sample Size	81 BD patients and 102 controls
SNP/Region/Marker Size	1 polymorphism
Predominant Ethnicity	Caucasian
Population	Czech

Detail Info

Sample Diagnosis	DSM-IV and the Mini International Neuropsychiatric Interview (MINI), (Czech Version, DMS IV criteria).
Sample Status	The patients were recruited from Psychiatric Clinic, First Medical Faculty of Charles University, Prague, Czech Republic. Unrelatedpatients (Ns 81) with either bipolar disorder I (BPI) or bipolar disorder II (BPII) were diagnosed using the StructuredClinical Interview for DSM-IV and the Mini International Neuropsychiatric Interview (MINI), (Czech Version, DMS IV criteria).
Technique	genotyped using a modification of the single strand conformation polymorphism (SSCP) analysis procedure
Statistical Method	A statistical program XSTAT was used to compute the chi square test and P values. Association to the SYNJ1 polymorphism was tested using the Pearson chi square test (22 table for allele frequency) anda chi square test for independence (for 32 tables).
Result Summary	In an analysis of a new set of 84 bipolar patients, none of the rare variants were detected. There was an increase in allele 2 for the intron 12 polymorphism, similar to our original study, but the result was not significant. The combined data from both studies continue to show a trend toward significance for allele 2 homozygotes in BPD.

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
SYNJ1 intron12 IVS12+15delT,+17delT	SYNJ1	insertion/deletion			Czech samples: allele frequency X²=0.16, P-value = 0.69, genotypes X²=1.06, P-value = 0.59. Combinedsamples: allele frequency X²=2.05, P-value = 0.15, genotypes X²=1.06, P-value = 0.29, 2*2 homozygotes vs. all other genotypes X²=2.27, P-value = 0.13	Although there was an increase in 22 homozygotes in the bip...... Although there was an increase in 22 homozygotes in the bipolar Czech subjects, similar to our previous study, the results were not statistically significant. When the data from both studies were combined, a trend towards significance was still found for 2*2 homozygotes More...	Negative

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