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	Kostyrko, A., 2006 PMID: 16733555
Citation	Kostyrko, A., J. Hauser, et al. (2006). "Screening of chromosomal region 21q22.3 for mutations in genes associated with neuronal Ca2+ signalling in bipolar affective disorder." Acta Biochim Pol 53(2): 317-320.
Disease Type	Bipolar Disorder
Study Design	case-control
Study Type	Mutation study and candidate-gene association study
Sample Size	60 patients and 66 healthy controls
SNP/Region/Marker Size	8 variants
Predominant Ethnicity	Caucasian
Population	Polack

Detail Info

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

SNP	Related Gene(s)	Allele Change	Risk Allele	Statistical Values	Author Comments	Result Category
rs34601320	TRPM2	C>T		novel mutation in this study	We detected three novel c.C>T transitions in TRPM2 and one o...... We detected three novel c.C>T transitions in TRPM2 and one of them (c.2769C>T) led to a rare substitution A890V. However, these findings do not support an association of the transitions with the disorder. More...	Trend
rs34803496	TRPM2	C>T		novel mutation in this study	We detected three novel c.C>T transitions in TRPM2. However,...... We detected three novel c.C>T transitions in TRPM2. However, these findings do not support an association of the transitions with the disorder. More...	Trend
rs35698354	TRPM2	C>T		novel mutation in this study	We detected three novel c.C>T transitions in TRPM2. However,...... We detected three novel c.C>T transitions in TRPM2. However, these findings do not support an association of the transitions with the disorder. More...	Trend

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
ADARB1 c.2234A>G	ADARB1	point mutation	A>G		X²=1.96	We compared the frequency of the transitions in BPAD patient...... We compared the frequency of the transitions in BPAD patients and controls but the difference was statistically insignificant. One of the highest chi square value was: 1.96 for c.2234G>A in ADARB1. More...	Negative
TRPM2 c.3205C>T	TRPM2	point mutation	C>T		X²=1.02	We compared the frequency of the transitions in BPAD patient...... We compared the frequency of the transitions in BPAD patients and controls but the difference was statistically insignificant. One of the highest chi square value was: 1.02 for c.3205C>T in TRPM2. More...	Negative
TRPM2 c.3246+68C>T	TRPM2	point mutation	C>T		data not shown	We compared the frequency of the transitions in BPAD patient...... We compared the frequency of the transitions in BPAD patients and controls but the difference was statistically insignificant. More...	Negative
TRPM2 c.2890+55A>G	TRPM2	point mutation	A>G		data not shown	We compared the frequency of the transitions in BPAD patient...... We compared the frequency of the transitions in BPAD patients and controls but the difference was statistically insignificant. More...	Negative
TRPM2 c.2363C>T	TRPM2	point mutation	C>T		data not shown	We compared the frequency of the transitions in BPAD patient...... We compared the frequency of the transitions in BPAD patients and controls but the difference was statistically insignificant. More...	Negative

Genes reported by this study for BD (count: 2)

Gene	Statistical Values/Author Comments	Result Category
ADARB1	According to our results, bipolar affective disorder may not be caused by mutations in ADARB1. According to our results, bipolar affective disorder may not be caused by mutations in ADARB1.	Negative
TRPM2	Our findings do not support an association of the transitions in TRPM2 with the disorder, however, t...... Our findings do not support an association of the transitions in TRPM2 with the disorder, however, this study does not exclude TRPM2 as a candidate gene since we have screened only about 30 per cent of the entire coding sequence of this large gene. More...	Negative