Study Report
Basic Info
| Reference |
Pedrosa, E., 2008 PMID: 18508241
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| Citation |
Pedrosa, E., R. Stefanescu, et al. (2008). "Analysis of protocadherin alpha gene enhancer polymorphism in bipolar disorder and schizophrenia." Schizophr Res 102(1-3): 210-219.
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| Disease Type |
Bipolar Disorder |
| Study Design |
case-control |
| Study Type |
Candidate-gene association study |
| Sample Size |
167 BD and 211 controls; 176 SZ and 175 U.S. controls |
| SNP/Region/Marker Size |
1 SNP |
| Predominant Ethnicity |
Caucasian |
| Population |
Czech |
Detail Info
| Sample Diagnosis |
Schedule for Affective Disorders and Schizophrenia-Lifetime (SADS-L) interview or by unstructured clinical interview modified from SADS-L using Research Diagnostic Criteria (RDC) criteria |
| Technique |
qPCR; ChIP-chip; Electromobility gel shift assay; Genotyping |
| Statistical Method |
Tests for Hardy-Weinberg equilibrium (HWE) were conducted for each of the SNPs separately for controls and cases. The exact p-value for the HWE test was approximated by 10,000 permutations. A statistical program, StatXACT-5 (Cytel Software Corporation, Cambridge MA) was used to compute chi square statistics for differences in allele and genotype frequencies. The level of significance was set at p<.05. |
| Result Summary |
A striking increase in homozygotes for the minor allele at SNP(rs31745) was detected in patients with BD. Molecular analysis revealed that the SNP causes allele-specific changes in binding to a brain protein. |
SNPs reported by this study for BD (count: 1)
| SNP |
Related Gene(s) |
Allele Change |
Risk Allele |
Statistical Values |
Author Comments |
Result Category |
| rs31745 |
PCDHA@
|
C/T |
T |
Allele frequency Pearson X2(df=1)= 0.32, asymptotic P-value = 0.57; genotype distribution X2 test for independence, Pearson X2(df=2)=12.63, exact P-value = 0.001 for BD when compared with controls. Hardy-Weinberg equilibrium P-value = 0.0004 for BD.
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A significant increase in homozygosity for the T allele was ......
A significant increase in homozygosity for the T allele was detected in the bipolar patients.
More...
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Positive
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Genes reported by this study for BD (count: 1)
| Gene |
Statistical Values/Author Comments |
Result Category |
| PCDHA@ |
A striking increase in homozygotes for the minor allele at SNP(rs31745) was detected in patients wit......
A striking increase in homozygotes for the minor allele at SNP(rs31745) was detected in patients with BD. Molecular analysis revealed that the SNP causes allele-specific changes in binding to a brain protein. The findings suggest that the 5q31-linked PCDH locus should be more thoroughly considered as a disease-susceptibility locus in psychiatric disorders.
More...
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Positive
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