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	Pato, C. N.,2004 PMID: 15108176
Citation	Pato, C. N., M. T. Pato, et al. (2004). "Genome-wide scan in Portuguese Island families implicates multiple loci in bipolar disorder: fine mapping adds support on chromosomes 6 and 11." Am J Med Genet B Neuropsychiatr Genet 127B(1): 30-34.
Disease Type	Bipolar Disorder
Study Design	pedigree
Study Type	Genome-wide linkage study
Sample Size	16 families with bipolar disorder containing 102 members
SNP/Region/Marker Size	366 microsatellite markers for whole genome wide
Predominant Ethnicity
Population	Portuguese

Detail Info

Sample Diagnosis	DSM
Sample Status	Families were chosen for genotyping based on the presence of at least an affected relative pair appropriate for linkage analysis. All families that had been completely evaluated at the time of this study were included for genotyping. This initial genome scan of bipolar disorder includes 16 families with an average of 2.9 affected: 10 families were from the Azorean Islands, 2 from Madeira, and 4 from Coimbra on the Portuguese mainland.A single narrow phenotypic model was chosen that included only bipolar disorder-type 1 and schizoaffective disorderbipolar type. Genotyping data were available for analysis for 102 family members of which 47 members were affected with either bipolar disorder (n=46) or schizoaffective disorderbipolar (n=1) for 366 microsatellite markers with an average inter-marker spacing of 9.6 cM.
Technique	genotyping
Statistical Method	Non-parametric multi-point linkage analysis of the data was performed using GENEHUNTER 2.0 [Markianos et al., 2001].
Result Summary	This study replicates this finding having detected a peak NPL = 2.02 (P = 0.025) with the same marker D6S1021(104.7 Mb). Higher-density mapping provided additional support for loci on chromosome 6 including marker D6S1021 with an NPL = 2.59 (P = 0.0068) and peaking at marker D6S1639 (125 Mb) with an NPL = 3.06 (P = 0.0019). A similar pattern was detected with higher-density mapping of chromosome 11 with an NPL = 3.15 (P = 0.0014) at marker D11S1883 (63.1 Mb). Simulations at the density of our fine mapping data indicate that less than 1 scan out of 10 would find two such scores genome-wide in the same scan by chance. Our findings provide additional support for a susceptibility locus for bipolar disorder on 6q, as well as, suggesting the importance of denser scans.

Regions reported by this study for BD (count: 9)

Region	Statistical Values	Author Comments	Result Category
Chr 7_18.03Mb	Linkage analysis: NPL Score = 1.83, P-value = 0.038	Suggestive linkage was found in this region. Suggestive linkage was found in this region.	Trend
Chr 6_125Mb	Linkage analysis: NPL Score = 3.06, P-value = 0.0019	Suggestive linkage was found in this region. Suggestive linkage was found in this region.	Trend
Chr 6_104.73Mb	Linkage analysis: NPL Score = 2.02, P-value = 0.026	Suggestive linkage was found in this region. Suggestive linkage was found in this region.	Trend
Chr 11_67.6Mb	Linkage analysis: NPL Score = 2.58, P-value = 0.007	Suggestive linkage was found in this region. Suggestive linkage was found in this region.	Trend
Chr 11_63.1Mb	Linkage analysis: NPL Score = 3.15, P-value = 0.0014	Suggestive linkage was found in this region. Suggestive linkage was found in this region.	Trend
Chr 5_110.2Mb	Linkage analysis: NPL Score = 2.11, P-value = 0.021	Suggestive linkage was found in this region. Suggestive linkage was found in this region.	Trend
Chr 20_37.9Mb	Linkage analysis: NPL Score = 2.18, P-value = 0.018	Suggestive linkage was found in this region. Suggestive linkage was found in this region.	Trend
Chr 2_43.35Mb	Linkage analysis: NPL Score = 2.28, P-value = 0.014	Suggestive linkage was found in this region. Suggestive linkage was found in this region.	Trend
Chr 19_15.5Mb	Linkage analysis: NPL Score = 2.37, P-value = 0.012	Suggestive linkage was found in this region. Suggestive linkage was found in this region.	Trend