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	Cheng, R.,2006 PMID: 16172609
Citation	Cheng, R., N. Park, et al. (2006). "Psychosis and the genetic spectrum of bipolar disorder: evidence from linkage analysis." Mol Psychiatry 11(1): 3-5.
Disease Type	Bipolar Disorder
Study Design	pedigree
Study Type	Candidate-region linkage study
Sample Size	373 individuals in 40 families with high density of BP
SNP/Region/Marker Size	343 microsatellite markers for 12 different chromosomal regions
Predominant Ethnicity	Caucasian
Population	American and Israeli

Detail Info

Sample Diagnosis	RDC
Sample Status	The models used for the broadened affected phenotype, or 'all BP', are the same as those employed in our initial genome scan: BP1 (manic syndromes; mostly BPI disorder), BP2 (BP1 plus BPII disorder), and BP3 (BP2 plus recurrent major depression).The three models include 119, 209, and 307 affected individuals, respectively. The corresponding models for psychotic BP are BP-P1, BP-P2, and BP-P3 described elsewhere.1 They include 68, 72, and 79 affected individuals, respectively. Thus, the broadened psychotic BP sample includes an additional 228 nonpsychotic affected individuals.
Technique	genotyping
Statistical Method	The MLINK program from the FASTLINK package is used for parametric linkage analysis.
Result Summary	In four of these regions - 6q21, 8q24, 10q22, and 15q26 - support for linkage using the broad phenotype is minimal or nonexistent (lod score <=0.5). Two other regions - 13q32 and 17p12 - show moderate reduction in lod scores ( < 1 lod unit). On the other hand, in two regions the evidence for linkage is either unaltered - 5q33 - or greatly enhanced to genome-wide significance (lod score > 3.3)6 - 18q21. Weakening of linkage signals might suggest that the original findings1 are falsepositive. However, many of these signals are supported by previous studies of BP (though sorting out linkage to psychosis requires more study) or by studies of schizophrenia, another disorder with major psychotic features thought to have genes in common with BP.1,8-10 Our results suggest that for some loci psychotic and nonpsychotic variants of BP may not be part of the same genetic 'spectrum'. This supports our previous observations1,2 that the presence or absence of psychosis may be governed by different susceptibility loci, and that phenotypic dissection of BP may expedite the search for the underlying genes.

Regions reported by this study for BD (count: 12)

Region	Statistical Values	Author Comments	Result Category
8p21	Two point parametric linkage analysis: LOD = 0.82, theta = 0, Model BP1, dom	No significant linkage was found in this region. No significant linkage was found in this region.	Negative
8p12	Two point parametric linkage analysis: LOD = 1.02, theta = 0.05, Model BP1, dom	No significant linkage was found in this region. No significant linkage was found in this region.	Negative
6q21	Two point parametric linkage analysis: LOD = 0.35, theta = 0.05, Model BP1, rec	No significant linkage was found in this region. No significant linkage was found in this region.	Negative
5q33	Two point parametric linkage analysis: LOD = 1.68, theta = 0, Model BP3, dom	No significant linkage was found in this region. No significant linkage was found in this region.	Negative
20q13	Two point parametric linkage analysis: LOD = 0.51, theta = 0.05, Model BP1, dom	No significant linkage was found in this region. No significant linkage was found in this region.	Negative
18q21	Two point parametric linkage analysis: LOD = 3.61, theta = 0, Model BP1, dom	Significant linkage was found in this region. Significant linkage was found in this region.	Positive
17p12	Two point parametric linkage analysis: LOD = 1.62, theta = 0.05, Model BP2, dom	No significant linkage was found in this region. No significant linkage was found in this region.	Negative
15q26	Two point parametric linkage analysis: LOD = 0.2, theta = 0.1, Model BP3, dom	No significant linkage was found in this region. No significant linkage was found in this region.	Negative
13q32	Two point parametric linkage analysis: LOD = 1.04, theta = 0, Model BP1, rec	No significant linkage was found in this region. No significant linkage was found in this region.	Negative
10q22	Two point parametric linkage analysis: LOD = 0.07, theta = 0.05, Model BP3, rec	No significant linkage was found in this region. No significant linkage was found in this region.	Negative
8q24	Two point parametric linkage analysis: LOD = 0.33, theta = 0.1, Model BP3, dom	No significant linkage was found in this region. No significant linkage was found in this region.	Negative
9q31	Two point parametric linkage analysis: LOD = 1.57, theta = 0, Model BP1, rec	No significant linkage was found in this region. No significant linkage was found in this region.	Negative