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	Ivanova, M. A.,2012 PMID: 23277136
Citation	Ivanova, M. A., et al. (2012). "Evidence of an association between bipolar disorder and rs16917237 in the BDNF gene in a Bulgarian sample." Psychiatr Genet.
Disease Type	Bipolar Disorder
Study Design	case-control and family based
Study Type	Candidate-gene association study
Sample Size	The sample included 314 patients [277 patients with bipolar disorder (BD), type I (BPI), 30 patients with BD,type II (BPII), seven patients with schizoaffective disorder, bipolar type (SA), and 115 patients with major depressive disorder]. The 205 healthy controls were matched to the affected patients by sex, ethnicity, and age.
SNP/Region/Marker Size	3 SNPs
Predominant Ethnicity	Caucasian
Population	Bulgarian

Detail Info

Sample Diagnosis	DSM-IV
Replication Size	262 affected patients, 352 healthy relatives
Technique	Genotyping
Statistical Method	All statistical analyses were carried out using PLINK v1.07 (http://pngu.mgh.harvard.edu/purcell/plink/) (Purcell et al., 2007).Association was tested under two affection models. In the narrow model, patients with BPI, BPII, and SA were considered as affected; in the broad model, patients with major depressive disorder were also included.
Result Summary	In the caseÃ�control study, a tendency for a more frequent C (Val) allele of rs6265 (80.72%/75.95%; P=0.093) and borderline significance for genotype Met/Met (3.07%/ 6.96%; P=0.055) were found for the narrow phenotype. Significant differences were found for rs16917237 under both affection statuses (78.40%/70.95%; P=0.015, narrow; 77.65%/72.78%; P=0.086, broad), with the G allele more frequent in patients. Genotype T/Twas underrepresented in patients (3.14%/10.13%; P=0.002, narrow; 3.36%/ 8.33%; P=0.011, broad affection status), surviving the Bonferroni correction. No significant differences were observed between cases and controls for rs12273363. In the haplotype analysis, several two-marker and threemarker haplotypes were more frequently found in the group of patients compared with controls: rs6265-rs16917237, C-G, (0.78%/0.71%; P=0.0185, narrow), rs16917237-rs12273363, G-T (0.68%/0.57%; P=0.001, narrow; 0.66%/0.59%; P=0.023, broad), and rs6265- rs16917237-rs12273363, C-G-T (0.68%/0.58%; P=0.002, narrow; 0.66%/0.59%; P=0.025, broad). The haplotype rs16917237-rs12273363, T-T, was rarer in the group of affected patients (0.21%/0.29%; P=0.008, narrow; 0.22%/0.28%; P=0.043, broad). No preferential transmission of any of the alleles of the investigated SNPs was found in the family study.In summary, the current study lends support to the role of BDNF as a predisposing or a modifying factor in the etiology of AD.

SNPs reported by this study for BD (count: 3)

SNP	Related Gene(s)	Allele Change	Risk Allele	Statistical Values	Author Comments	Result Category
rs6265	BDNF BDNF-AS	Val66Met		Caseâ€“control study:C(Val) allele:80.72%/75.95%(case/control); P=0.093; genotype Met/Met:3.07%/6.96%(case/control) for the narrow phenotype.	No significant association was observed. No significant association was observed.	Negative
rs12273363	BDNF			Caseâ€“control study:all P-value > 0.05	No significant association was observed. No significant association was observed.	Negative
rs16917237	BDNF BDNF-AS	G/T		Caseâ€“control study:G allele:78.40%/70.95%(case/control); P=0.015, narrow;77.65%/72.78%(case/control); P=0.086, broad; genotype T/T:3.14%/10.13%(case/control); P=0.002, narrow; 3.36%/8.33%(case/control); P=0.011, broad affection status.	Significant differences were found for rs16917237 under both...... Significant differences were found for rs16917237 under both affection statuses. More...	Positive

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

Markers	Haplotype	Related Gene(s)/Region(s)	Statistical Values	Author Comments	Result Category
rs6265 - rs16917237	C-G	BDNF	Association results:genotype frequency,0.78%/0.71%(case/control); P=0.0185, narrow	The haplotype was more frequently found in the group of pati...... The haplotype was more frequently found in the group of patients compared with controls. More...	Positive
rs16917237 - rs12273363	G-T	BDNF	Association results:genotype frequency,0.68%/0.57%(case/control); P=0.001,narrow; 0.66%/0.59(case/control)%; P=0.023, broad	The haplotype was more frequently found in the group of pati...... The haplotype was more frequently found in the group of patients compared with controls. More...	Positive
rs6265 - rs16917237 - rs12273363	C-G-T	BDNF	Association results:genotype frequency,0.68%/0.58%(case/control); P=0.002,narrow; 0.66%/0.59%(case/control); P=0.025, broad	The haplotype was more frequently found in the group of pati...... The haplotype was more frequently found in the group of patients compared with controls. More...	Positive
rs16917237 - rs12273363	T-T	BDNF	Association results:genotype frequency,0.21%/0.29%(case/control); P=0.008, narrow; 0.22%/0.28%(case/control); P=0.043, broad	The haplotype was rarer in the group of patients compared wi...... The haplotype was rarer in the group of patients compared with controls. More...	Positive

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