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	Mick, E.,2009 PMID: 19193231
Citation	Mick, E., J. Wozniak, et al. (2009). Family-based association study of the BDNF, COMT and serotonin transporter genes and DSM-IV bipolar-I disorder in children. BMC Psychiatry 9: 2.
Disease Type	Bipolar I Disorder
Study Design	family-based
Study Type	Candidate-gene association study
Sample Size	Bipolar-I affected offspring triads (N = 173) were drawn from 522 individuals with 2 parents in 332 nuclear families
SNP/Region/Marker Size	3 variants
Predominant Ethnicity
Population	American
Gender	74% male (N = 127)
Age Group	Adolescent : mean age(year) of bipolar offspring:12.8(SD=5.2)

Detail Info

Sample Diagnosis	DSM
Sample Status	Bipolar-I affected offspring triads (N = 173) were drawn from 522 individuals with 2 parents in 332 nuclear families recruited for genetic studies of pediatric psychopathology at the Clinical and Research Program in Pediatric Psychopharmacology and Adult ADHD at Massachusetts General Hospital [41-44]. All studies were sampled from the same source population and used the same assessment methodology regardless of the disorder used to classify subjects as cases. All study procedures were reviewed and approved by the Partners Healthcare Human Research Committee. All subjects' parents or guardians signed written informed consent forms and children older than 7 years of age signed written assent forms.The mean age at onset was 7.5,SD=4.7 years of age and the clinical presentation was chronic (3.5,SD=3.8 years duration),with rapid cycling (22.4,SD=82.3 episodes), and functional impairment (GAF score of 41.0,SD=6.1).
Technique	genotyping
Statistical Method	Transmission Disequilibrium Test (TDT)
Result Summary	RESULTS: We failed to identify an association with the val66 allele in BDNF (OR = 1.23, p = 0.36), the COMT-l allele (OR = 1.27, p = 0.1), or the HTTLPR short allele (OR = 0.87, p = 0.38). CONCLUSION: Our study suggests that the markers examined thus far in COMT and SLC6A4 are not associated with pediatric bipolar disorder and that if the val66met marker in BDNF is associated with pediatric bipolar disorder the magnitude of the association is much smaller than first reported.

Other variants reported by this study for BD (count: 3)

Variant Name	Related Gene	Type	Allele Change	Risk Allele	Statistical Values	Author Comments	Result Category
BDNF Val66Met	BDNF	point mutation	Val/Met	Val	TDT:OR=1.23, 95%CI=0.79-1.92, X²=0.8, P-value = 0.37	We failed to identify significant associations with this can...... We failed to identify significant associations with this candidate. More...	Negative
5HTTLPR	SLC6A4	microsatellite	short/long	short	TDT:OR=0.87, 95%CI=0.63-1.19, X²=0.8, P-value = 0.38	We failed to identify significant associations with this can...... We failed to identify significant associations with this candidate. More...	Negative
COMT Val158Met	COMT	point mutation	Val/Met	Met	TDT:OR=1.27, 95%CI=0.92-1.75, X²=2.1, P-value = 0.14	We failed to identify significant associations with this can...... We failed to identify significant associations with this candidate. More...	Negative

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

Gene	Statistical Values/Author Comments	Result Category
SLC6A4	Our study suggests that markers examined thus far in SLC6A4 are not associated with pediatric bipola...... Our study suggests that markers examined thus far in SLC6A4 are not associated with pediatric bipolar disorder. More...	Negative
COMT	Our study suggests that markers examined thus far in COMT are not associated with pediatric bipolar ...... Our study suggests that markers examined thus far in COMT are not associated with pediatric bipolar disorder. More...	Negative
BDNF	We failed to identify an association with the val66 allele in BDNF with pediatric bipolar disorder.. We failed to identify an association with the val66 allele in BDNF with pediatric bipolar disorder..	Negative