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	Etain, B., 2010 PMID: 19125158
Citation	Etain, B., A. Dumaine, et al. (2010). "A SNAP25 promoter variant is associated with early-onset bipolar disorder and a high expression level in brain." Mol Psychiatry 15(7): 748-755.
Disease Type	Bipolar Disorder
Study Design	case-control
Study Type	Mutation study and candidate-gene association study
Sample Size	197 patients with early-onset BD, 202 patients with late-onset BD and 136 unaffected subjects
SNP/Region/Marker Size	7 haplotype-tagging SNPs (htSNPs) from mutation screening by sequencing
Predominant Ethnicity	Caucasian
Population	French

Detail Info

SNPs reported by this study for BD (count: 6)

SNP	Related Gene(s)	Allele Change	Risk Allele	Statistical Values	Author Comments	Result Category
rs2076239	SNAP25 SNAP25-AS1	A/T		P-value = 0.274, OR=1.50 between subjects affected with early-onset bipolar disorder (N= 197) and healthy controls (N= 136).	no association was observed. no association was observed.	Negative
rs1051312	SNAP25 SNAP25-AS1	T/C		P-value = 0.244, OR=1.25 between subjects affected with early-onset bipolar disorder (N= 197) and healthy controls (N= 136).	no association was observed. no association was observed.	Negative
rs363006	SNAP25 SNAP25-AS1	G/A	A	P-value = 0.040, OR=1.57 between subjects affected with early-onset bipolar disorder (N= 197) and healthy controls (N= 136).	differed significantly between the early-onset and control g...... differed significantly between the early-onset and control groups More...	Positive
rs362987	SNAP25 SNAP25-AS1	A/C		P-value = 0.226, OR=1.21 between subjects affected with early-onset bipolar disorder (N= 197) and healthy controls (N= 136).	no association was observed. no association was observed.	Negative
rs8636	SNAP25 SNAP25-AS1	C/T		P-value = 0.817, OR=0.96 between subjects affected with early-onset bipolar disorder (N= 197) and healthy controls (N= 136).	no association was observed. no association was observed.	Negative
rs6039769	SNAP25 SNAP25-AS1	C/A	A	P-value = 0.005, OR=0.62 between subjects affected with early-onset bipolar disorder (N= 197) and healthy controls (N= 136). Genotypic association P-value = 0.017	differed significantly between the early-onset and control g...... differed significantly between the early-onset and control groups; remained significant in early-onset subgroup after correction for multiple testing. Significant genotypic association was observed only for SNP4. More...	Positive

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

Markers	Haplotype	Related Gene(s)/Region(s)	Statistical Values	Author Comments	Result Category
SNAP25_promoter_SNP1 - rs6039769 - rs2076239 - rs362987	GAAA	SNAP25	P-value = 0.002 for 'GAAA' haplotype	have significant P-values in early onset subgroup have significant P-values in early onset subgroup	Positive
rs6039769 - rs2076239 - rs362987 - rs363006	AAAG	SNAP25	P-value = 0.004 for 'AAAG' haplotype	have significant P-values in early onset subgroup have significant P-values in early onset subgroup	Positive
rs362987 - rs363006 - rs1051312 - rs8636	CACC	SNAP25	P-value = 0.04 for 'CACC' haplotype	have significant P-values in early onset subgroup have significant P-values in early onset subgroup	Positive
rs2076239 - rs362987 - rs363006 - rs1051312	ACAC	SNAP25	P-value = 0.06 for 'ACAC' haplotype	non-significant in early onset subgroup non-significant in early onset subgroup	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
SNAP25 promoter SNP1	SNAP25	point mutation	G/T		P-value = 0.767, OR=1.08 between subjects affected with early-onset bipolar disorder (N= 197) and healthy controls (N= 136).	no association was observed. no association was observed.	Negative

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