Study Report

Basic Info
Reference |
Mazza, M.,2010 PMID: 20494452
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Citation |
Mazza, M., L. Mandelli, et al. (2010). "Further evidence supporting the association between 5HTR2C gene and bipolar disorder." Psychiatry Res 180(2-3): 151-152.
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Disease Type |
Bipolar Disorder |
Study Design |
case-control |
Study Type |
Candidate-gene association study |
Sample Size |
131 BD patients and 65 controls |
SNP/Region/Marker Size |
3 SNPs |
Predominant Ethnicity |
Caucasian |
Population |
Italian |
Age Group |
Adults
:
Mean age(SD)(year):47.0(12.4) for BD patients and 41.4(12.4) for controls
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Detail Info
Sample Diagnosis |
DSM |
Sample Status |
Sample recruitment and description have already been presented elsewhere (Mazza et al., 2009). Briefly, BD patients meeting Diagnostic and Statistical Manual of Mental Disorders, fourth edition (DSM)-IV criteria for bipolar I (BD-I), bipolar II (BD-II) or cyclothymic disorder (CtD) and aged between 18 and 80 years were asked to participate in the study. Diagnoses were established by the The Structured Clinical Interview for DSM-IV Axis I Disorders (SCID-I) according to DSM-IV criteria. The study cohort included 131 unrelated Italian individuals with BD; 65 received a diagnosis for a co-morbid SUD. Sixty-five healthy controls were recruited among hospital staff, blood donors and university students. |
Technique |
genotyping |
Statistical Method |
The 'Haploview' software (http://www.broad.mit.edu/mpg/haploview/) was employed to test for LD and Hardy-Weinberg equilibrium (HWE). Since 5HTR2C is located onchromosomeX,we estimated themost probable phase for females using the R software package haplo.stat (http://www.r-project.org/). |
Result Summary |
No significant difference in allele or genotype frequency was found for four out of the five SNPs between Belgian unipolar (UP) patients and age-, gender-, and ethnicity-matched controls. The cSNP did show allelic and genotypic association with borderline significance (P=0.04). However, a replication study of this cSNP in a bipolar sample of Belgian origin and a Swedish UP sample did not show significant differences in allele and genotype frequencies. |

Haplotypes reported by this study for BD (count: 7)
Markers |
Haplotype |
Related Gene(s)/Region(s) |
Statistical Values |
Author Comments |
Result Category |
rs6318 - rs2428707 - rs4272555 |
C-C-T |
HTR2C
|
Haplotype analysis:adjusted global P-value < 0.0001, adjusted individual P-value = 0.031
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Significant association was found in BD.
Significant association was found in BD.
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Positive
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rs6318 - rs2428707 - rs4272555 |
C-C-C |
HTR2C
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Haplotype analysis:adjusted global P-value < 0.0001, adjusted individual P-value = 0.37
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Significant association was found in BD.
Significant association was found in BD.
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Positive
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rs6318 - rs2428707 - rs4272555 |
C-T-T |
HTR2C
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Haplotype analysis:adjusted global P-value < 0.0001, adjusted individual P-value = 0.019
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Significant association was found in BD.
Significant association was found in BD.
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Positive
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rs6318 - rs2428707 - rs4272555 |
C-T-C |
HTR2C
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Haplotype analysis:adjusted global P-value < 0.0001, adjusted individual P-value = 0.72
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Significant association was found in BD.
Significant association was found in BD.
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Positive
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rs6318 - rs2428707 - rs4272555 |
G-C-T |
HTR2C
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Haplotype analysis:adjusted global P-value < 0.0001, adjusted individual P-value = 0.11
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Significant association was found in BD.
Significant association was found in BD.
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Positive
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rs6318 - rs2428707 - rs4272555 |
G-C-C |
HTR2C
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Haplotype analysis:adjusted global P-value < 0.0001, adjusted individual P-value < 0.0001
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Significant association was found in BD.
Significant association was found in BD.
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Positive
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rs6318 - rs2428707 - rs4272555 |
G-T-C |
HTR2C
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Haplotype analysis:adjusted global P-value < 0.0001, adjusted individual P-value < 0.0001
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Significant association was found in BD.
Significant association was found in BD.
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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 |
HTR2C |
In conclusion, our study confirms the involvement of the 5HTR2C gene in BD.
In conclusion, our study confirms the involvement of the 5HTR2C gene in BD.
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Positive
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