BDgene

Core Gene from Gene Prioritization Pathways from PBA (Pathway-based Analysis) Enriched Pathways for Core Genes Enriched Pathways for Cross-disorder Genes

Search Gene with Disease Search Gene1 with Disease

Study Report

Comment on Study

View All Comments on Study

Basic Info

Reference	Mazza, M.,2010 PMID: 20494452
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.
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

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	Significant association was found in BD. Significant association was found in BD.	Positive
rs6318 - rs2428707 - rs4272555	C-C-C	HTR2C	Haplotype analysis:adjusted global P-value < 0.0001, adjusted individual P-value = 0.37	Significant association was found in BD. Significant association was found in BD.	Positive
rs6318 - rs2428707 - rs4272555	C-T-T	HTR2C	Haplotype analysis:adjusted global P-value < 0.0001, adjusted individual P-value = 0.019	Significant association was found in BD. Significant association was found in BD.	Positive
rs6318 - rs2428707 - rs4272555	C-T-C	HTR2C	Haplotype analysis:adjusted global P-value < 0.0001, adjusted individual P-value = 0.72	Significant association was found in BD. Significant association was found in BD.	Positive
rs6318 - rs2428707 - rs4272555	G-C-T	HTR2C	Haplotype analysis:adjusted global P-value < 0.0001, adjusted individual P-value = 0.11	Significant association was found in BD. Significant association was found in BD.	Positive
rs6318 - rs2428707 - rs4272555	G-C-C	HTR2C	Haplotype analysis:adjusted global P-value < 0.0001, adjusted individual P-value < 0.0001	Significant association was found in BD. Significant association was found in BD.	Positive
rs6318 - rs2428707 - rs4272555	G-T-C	HTR2C	Haplotype analysis:adjusted global P-value < 0.0001, adjusted individual P-value < 0.0001	Significant association was found in BD. Significant association was found in BD.	Positive

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