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	Dimitrova, A.,2005 PMID: 15505643
Citation	Dimitrova, A., V. Milanova, et al. (2005). Association study of myo-inositol monophosphatase 2 (IMPA2) polymorphisms with bipolar affective disorder and response to lithium treatment. Pharmacogenomics J 5(1): 35-41.
Disease Type	Bipolar Disorder
Study Design	case-control and family-based
Study Type	Candidate-gene association study
Sample Size	237 parents-offspring trios(BP) in Bulgaria and UK ,174 BP cases in UK and 170 controls.
SNP/Region/Marker Size	8 SNPs
Predominant Ethnicity	Caucasian
Population	Bulgarian and British

Detail Info

Sample Diagnosis	DSM
Sample Status	We tested 121 Bulgarian patients affected with BP and all their parents.The recruitment of these nuclear families was performed by a team of over 40 psychiatrists in Bulgaria who also recruited families with schizophrenic probands.The psychiatrists attended training courses at the beginning of the sample collection. The probands were either in- or outpatients under the care of the recruiting psychiatrists. Each proband was interviewed with an abbreviated version of the Schedules for Clinical Assessment in Neuropsychiatry(SCAN).Consensus best estimate diagnoses were made according to DSM-IV criteria by two researchers (GK and IN). About 25% of the patients were selected for a second interview by GK or IN. Cases with unclear diagnoses were excluded from the study.In the UK, we recruited 116 parent-offspring trios and 174 unrelated BP patients, who were matched for age and gender with 170 healthy blood donors. All patients were interviewed in person by GK, who used the same rating scales, and consensus best-estimate diagnosis was made by him and another researcher, based on the interview and hospital notes that were available in each case.
Technique	genotyping
Statistical Method	Preferential transmission of alleles from heterozygous parents to affected offspring was analysed by the TDT.Comparison of allele frequencies between poor and good responders was made with X² statistics.Pairwise LD between the SNPs was estimated by calculating the Lewontin D' value and the r² coefficient in the two trio samples and is based on phase-certain haplotypes.
Result Summary	No SNP showed association with BP. When good responders to lithium treatment were compared with the poor responders, some statistically significant differences emerged for two SNPs; however, the sample became too small to draw definitive conclusions. We cannot find support for the involvement of variation in IMPA2 in susceptibility to bipolar disorder, but the role of this and other genes from the phosphoinositol signalling pathway in predicting response to lithium treatment merits further investigation.

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

SNP	Related Gene(s)	Allele Change	Risk Allele	Statistical Values	Author Comments	Result Category
rs3786282	IMPA2	A/C		Allelic association: P-value(TDT)=0.46 in BG trios; P-value(TDT)=0.92 in UK trios; P-value = 0.43 in UK case/control sample	No significant association was observed. No significant association was observed.	Negative

Other variants reported by this study for BD (count: 5)

Variant Name	Related Gene	Type	Allele Change	Risk Allele	Statistical Values	Author Comments	Result Category
IMPA2 443G>A (R148Q)	IMPA2	point mutation	R148Q		Allelic association:P-value(TDT)=0.16 in UK trios	No significant associations were found. No significant associations were found.	Negative
IMPA2 599+99G>A	IMPA2	point mutation	G/A		Allelic association:P-value(TDT)=0.93 in BG trios;P-value(TDT)=0.13 in UK trios;P-value = 0.71 in UK case/control sample	No significant associations were found. No significant associations were found.	Negative
IMPA2 -97-15G>A	IMPA2	point mutation	G/A		Allelic association:P-value(TDT)=0.8 in BG trios	No significant associations were found. No significant associations were found.	Negative
IMPA2 -461C>T	IMPA2	point mutation	C/T		Allelic association:P-value(TDT)=0.74 in BG trios;P-value(TDT)=0.34 in UK trios;P-value = 0.25 in UK case/control sample	No significant associations were found. No significant associations were found.	Negative
IMPA2 599+97G>A	IMPA2	point mutation	G/A		Allelic association:P-value(TDT)=1 in BG trios;P-value(TDT)=0.11 in UK trios;P-value = 0.89 in UK case/control sample	No significant associations were found. No significant associations were found.	Negative

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