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	Neves-Pereira, M.,2002 PMID: 12161822
Citation	Neves-Pereira, M., E. Mundo, et al. (2002). "The brain-derived neurotrophic factor gene confers susceptibility to bipolar disorder: evidence from a family-based association study." Am J Hum Genet 71(3): 651-655.
Disease Type	Bipolar Disorder
Study Design	family-based
Study Type	Candidate-gene association study
Sample Size	283 probands
SNP/Region/Marker Size	2 variants
Predominant Ethnicity	Caucasian
Population	Canadian
Gender	119 men and 164 women
Age Group	Adults : mean age 34.2 years (SD 10.00),and mean age at onset of the illness 19.69 years (SD 7.34)

Detail Info

Sample Diagnosis	DSM
Sample Status	Two hundred eighty-three probands with a primary diagnosis of bipolar I (N=182), bipolar II (N=100), or schizoaffective disorder,manic type (N=11),were recruited, with their living parents, from hospital clinics and through newspaper advertisements in Toronto and across central Canada. Two hundred sixty-nine probands (95.0%) were of European origin, seven (2.5%) were Asian, four (1.4%) were Native American (aboriginal),and three (1.1%) were African American. The study was approved by the Research Ethics Board of the Centre for Addiction and Mental Health in Toronto.
Technique	PCR
Statistical Method	We tested for presence of LD between both BDNF polymorphisms and BP, using the family-based association test (FBAT), which allows for inclusion of both triads and extended families in the analysis. Transmission/disequilibrium test (TDT) for marker haplotypes(GENEHUNTER, version 2.1) was used to test transmission disequilibrium between haplotypes of the two BDNF polymorphisms and BP.
Result Summary	Family-based association test (FBAT) results for the dinucleotide repeat (GT)(N) polymorphism at position -1040 bp showed that allele A3 was preferentially transmitted to the affected individuals (Z=2.035 and P=.042). FBAT results for the val66met SNP showed a significant association for allele G (Z=3.415 and P=.00064). Transmission/disequilibrium test (TDT) haplotype analysis showed a significant result for the 3-G allele combination (P=.000394), suggesting that a DNA variant in the vicinity of the BDNF locus confers susceptibility to BP. Given that there is no direct evidence that either of the polymorphisms we examined alters function, it is unlikely that the actual risk-conferring allele is from these two sites. Rather, the causative site is likely nearby and in linkage disequilibrium with the 3-G haplotype that we have identified.

Haplotypes reported by this study for BD (count: 11)

Markers	Haplotype	Related Gene(s)/Region(s)	Statistical Values	Author Comments	Result Category
[BNDF_(GT)n] - (BNDF_val66met)	allele 1-G	BDNF	Haplotype analysis:TDT, T/NT=8/8, chi square=0, P-value = 1	No significant association was found . No significant association was found .	Negative
[BNDF_(GT)n] - (BNDF_val66met)	allele 2-A	BDNF	Haplotype analysis:TDT, T/NT=0/1, chi square=1, P-value = 0.317311	No significant association was found . No significant association was found .	Negative
[BNDF_(GT)n] - (BNDF_val66met)	allele 10-A	BDNF	Haplotype analysis:TDT, T/NT=1/0, chi square=1, P-value = 0.317311	No significant association was found . No significant association was found .	Negative
[BNDF_(GT)n] - (BNDF_val66met)	allele 1-A	BDNF	Haplotype analysis:TDT, T/NT=20/39, chi square=6.12, P-value = 0.013376	Significant association was found in BD. Significant association was found in BD.	Positive
[BNDF_(GT)n] - (BNDF_val66met)	allele 3-G	BDNF	Haplotype analysis:TDT, T/NT=73/36, chi square=12.56, P-value = 0.000394	Significant association was found in BD. Significant association was found in BD.	Positive
[BNDF_(GT)n] - (BNDF_val66met)	allele 4-A	BDNF	Haplotype analysis:TDT, T/NT=0/4, chi square=4, P-value = 0.0455	Significant association was found in BD. Significant association was found in BD.	Positive
[BNDF_(GT)n] - (BNDF_val66met)	allele 2-G	BDNF	Haplotype analysis:TDT, T/NT=6/8, chi square=0.29, P-value = 0.59298	No significant association was found . No significant association was found .	Negative
[BNDF_(GT)n] - (BNDF_val66met)	allele 3-A	BDNF	Haplotype analysis:TDT, T/NT=8/18, chi square=3.85, P-value = 0.04986	Significant association was found in BD. Significant association was found in BD.	Positive
[BNDF_(GT)n] - (BNDF_val66met)	allele 7-G	BDNF	Haplotype analysis:TDT, T/NT=1/1, chi square=0, P-value = 1	No significant association was found . No significant association was found .	Negative
[BNDF_(GT)n] - (BNDF_val66met)	allele 4-G	BDNF	Haplotype analysis:TDT, T/NT=12/14, chi square=0.15, P-value = 0.694887	No significant association was found . No significant association was found .	Negative
[BNDF_(GT)n] - (BNDF_val66met)	allele 5-G	BDNF	Haplotype analysis:TDT, T/NT=2/2, chi square=0, P-value = 1	No significant association was found . No significant association was found .	Negative

Other variants reported by this study for BD (count: 2)

Variant Name	Related Gene	Type	Allele Change	Risk Allele	Statistical Values	Author Comments	Result Category
BDNF (GT)n	BDNF	microsatellite	multi-allelic repeats		Association analysis:FBAT, allele 1, Z score=-0.953, P-value = 0.34;allele 2, Z score=-1, P-value = 0.317;allele 3, Z score=2.035, P-value = 0.042;allele 4, Z score=-1.038, P-value = 0.299	Significant associations were found in BPD patients. Significant associations were found in BPD patients.	Positive
BDNF Val66Met	BDNF	point mutation	val66met		Association analysis:FBAT, allele A, Z score=-3.415, P-value = 0.00064;allele G, Z score=3.415, P-value = 0.00064	Significant associations were found in BPD patients. Significant associations were found in BPD patients.	Positive

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