Study Report

Basic Info
Reference |
Etain, B., 2010 PMID: 19125158
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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.
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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
Sample Diagnosis |
DSM-IV |
Sample Status |
Age-at-onset (AAO) of BD was defined as the age at which the first mood episode (depressive, manic or hypomanic) occurred, as determined by reviewing medical case notes and information obtained with the DIGS. Threshold for early-onset BD is AAO before the age of 22 years, others were late-onset subgroup. |
Technique |
sequencing and followed by TaqMan SNP genotyping assays. |
Statistical Method |
Statistical testing for allelic, genotypic and haplotypic associations was carried out with PLINK v0.99p software. Analyses of variance (ANOVA) were carried out with StatView v5.0 software (SAS Institute Inc., Cary, NC, USA). Spearman's rank correlation test for correlation test. |
Result Summary |
One variant, located in the promoter region, was associated with early-onset BD but not with the late-onset subgroup. In addition, individuals homozygous for this variant showed a significant higher SNAP25b expression level in prefrontal cortex. |

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
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have significant P-values in early onset subgroup
have significant P-values in early onset subgroup
|
Positive
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rs6039769 - rs2076239 - rs362987 - rs363006 |
AAAG |
SNAP25
|
P-value = 0.004 for 'AAAG' haplotype
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have significant P-values in early onset subgroup
have significant P-values in early onset subgroup
|
Positive
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rs362987 - rs363006 - rs1051312 - rs8636 |
CACC |
SNAP25
|
P-value = 0.04 for 'CACC' haplotype
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have significant P-values in early onset subgroup
have significant P-values in early onset subgroup
|
Positive
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rs2076239 - rs362987 - rs363006 - rs1051312 |
ACAC |
SNAP25
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P-value = 0.06 for 'ACAC' haplotype
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non-significant in early onset subgroup
non-significant in early onset subgroup
|
Negative
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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)
Gene |
Statistical Values/Author Comments |
Result Category |
SNAP25 |
one variant, located in the promoter region of SNAP25, was associated with early-onset BD but not wi......
one variant, located in the promoter region of SNAP25, was associated with early-onset BD but not with the late-onset subgroup. Individuals homozygous for this variant showed a significant higher SNAP25b expression level in prefrontal cortex.
More...
|
Positive
|