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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Basic Info

Reference	Maziade, M.,2005 PMID: 15534619
Citation	Maziade, M., M. A. Roy, et al. (2005). "Shared and specific susceptibility loci for schizophrenia and bipolar disorder: a dense genome scan in Eastern Quebec families." Mol Psychiatry 10(5): 486-499.
Disease Type	Bipolar Disorder & Schizophrenia
Study Design	pedigree
Study Type	Genome-wide linkage study
Sample Size	21 multigenerational families of Eastern Quebec affected by SZ, BP or both(N=480 family members).
SNP/Region/Marker Size	607 microsatellite markers for whole genome wide
Predominant Ethnicity
Population	Canadian
Gender	Males constituted 46% of the broad CL phenotype definition.
Age Group	Adults : The mean age of onset was 25.4 (SD=8.5) years for SZ and 28.8 (SD=10.3) years for BP.The mean current age was 43.8 and 56.4 years, respectively.

Detail Info

Sample Diagnosis	DSM
Sample Status	The narrow SZ phenotype was restricted to SZ diagnosis (N=71), and the broad phenotype included SZ, schizophreniform and schizotypal personality disorders (N=81). The narrow BP phenotype was restricted to BP I (N=48) and the broad phenotype included BP I, BP II and recurrent major depression (N=72). To test the hypothesis that some susceptibility loci may be shared by SZ and BP, we used a common locus (CL) phenotype definition that combined the SZ and BP phenotypes: the narrow CL phenotype included SZ, BP I and schizoaffective disorder (SZA) (N=134), while the broad CL phenotype included the CL narrow, plus recurrent major depression, schizophreniform and schizotypal personality disorders (N=169). Although included in the CL phenotype, SZAwas excluded from the SZ and the BP phenotype definitions given that family studies are ambiguous about the specificity of the coaggregation with SZ or BP.
Technique	genotyping
Statistical Method	Model-based (or parametric) linkage analyses were performed since they are more powerful than modelfree(or nonparametric) analyses,even when the mode of inheritance specified is only approximately correct, provided that at least one dominant and one recessive model are considered.Two- and threepoint lod scores were systematically computed using the FASTLINK version of the LINKAGE programs.
Result Summary	We observed five genomewide significant linkages with mod score >4.0: three for BP (15q11.1, 16p12.3, 18q12-q21) and two for the shared phenotype, that is, the common locus (CL) phenotype (15q26,18q12-q21). Nine mod scores exceeded the suggestive threshold of 2.6: three for BP (3q21, 10p13, 12q23), three for SZ (6p22, 13q13, 18q21) and three for the CL phenotype (2q12.3, 13q14, 16p13). Mod scores >1.9 might represent confirmatory linkages of formerly reported genomewide significant findings such as our finding in 6p22.3 for SZ. Several regions appeared to be shared by SZ and BP. One linkage signal (15q26) appeared novel, whereas others overlapped formerly reported susceptibility regions. Despite the methodological limitations we raised, our data support the following trends: (i) results from several genome scans of SZ and BP in different populations tend to converge in specific genomic regions and (ii) some of these susceptibility regions may be shared by SZ and BP, whereas others may be specific to each. The present results support the relevance of investigating concurrently SZ and BP within the same study and have implications for the modelling of genetic effects.

Genetic factors reported by this study for BD

Regions reported by this study for BD (count: 10)

Region	Statistical Values	Author Comments	Result Category
15q11.1	Linkage analysis: for BP broad, D-ao model, marker D15S122, Mod score = 4.59, theta = 0	Significant linkage was found in this region(Mod score > = ...... Significant linkage was found in this region(Mod score > = 4.0). More...	Positive
13q13.3-q14.11	Linkage analysis: for BP narrow, D-ao model, marker D13S325, Mod score = 2.27, theta = 0.05	No significant linkage was found in this region. No significant linkage was found in this region.	Negative
16p12.3-p13.1	Linkage analysis: for BP narrow, R-ao model, marker D16S410, Mod score = 4.05, theta = 0	Significant linkage was found in this region(Mod score > = ...... Significant linkage was found in this region(Mod score > = 4.0). More...	Positive
15q26.3	Linkage analysis: for BP broad, R-ao model, marker D15S657, Mod score = 2.31, theta = 0.05	No significant linkage was found in this region. No significant linkage was found in this region.	Negative
18q12.3-q21.1	Linkage analysis: for BP broad, R-au model, marker D18S1145, Mod score = 4.1, theta = 0.2	Significant linkage was found in this region(Mod score > = ...... Significant linkage was found in this region(Mod score > = 4.0). More...	Positive
16q21	Linkage analysis: for BP broad, D-ao model, marker D16S3253, Mod score = 2.19, theta = 0.01	No significant linkage was found in this region. No significant linkage was found in this region.	Negative
3q21.1-q21.2	Linkage analysis: for BP narrow, D-ao model, marker D3S3023, Mod score = 2.68, theta = 0.05	There is a trend for Significant linkage in this region(Mod ...... There is a trend for Significant linkage in this region(Mod score >= 2.6). More...	Trend
2q12.3-q22.1	Linkage analysis: for BP broad, D-ao model, marker D2S298, Mod score = 1.91, theta = 0.15	No significant linkage was found in this region. No significant linkage was found in this region.	Negative
12q23.1	Linkage analysis: for BP broad, R-ao model, marker D12S1030, Mod score = 3.53, theta = 0.09	There is a trend for Significant linkage in this region(Mod ...... There is a trend for Significant linkage in this region(Mod score >= 2.6). More...	Trend
10p13	Linkage analysis: for BP narrow, D-ao model, marker D10S674, Mod score = 2.66, theta = 0	There is a trend for Significant linkage in this region(Mod ...... There is a trend for Significant linkage in this region(Mod score >= 2.6). More...	Trend

Genetic factors reported by this study for SZ and/or MDD

Regions reported by this study for SZ/MDD

Disease	Region Name	Statistical Values	Description	Result Category
SZ	10p13	Linkage analysis:for SZ broad, D-au model, marker D10S245, Mod score=2.06, theta=0.15	No positive linkage was found in this region.	Negative
SZ	15q26.3	Linkage analysis:for SZ narrow, R-ao model, marker D15S1014, Mod score=2.31, theta=0.05	No positive linkage was found in this region.	Negative
SZ	13q13.3-q14.11	Linkage analysis:for SZ narrow, D-ao model, marker D13S1491, Mod score=2.96, theta=0.05	There is a trend for positive linkage in this region(Mod score>=2.6).	Trend
SZ	3q21.1-q21.2	Linkage analysis:for SZ narrow, R-ao model, marker D3S1579, Mod score=1.91, theta=0.05	No positive linkage was found in this region.	Negative
SZ	18q12.3-q21.1	Linkage analysis:for SZ narrow, D-au model, marker D18S851, Mod score=3.87, theta=0.1	There is a trend for positive linkage in this region(Mod score>=2.6).	Trend