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	Le Hellard, S., 2007 PMID: 16996484
Citation	Le Hellard, S., A. J. Lee, et al. (2007). "Haplotype analysis and a novel allele-sharing method refines a chromosome 4p locus linked to bipolar affective disorder." Biol Psychiatry 61(6): 797-805.
Disease Type	Bipolar Disorder
Study Design	family-based
Study Type	Candidate-region linkage study
Sample Size	Scottish families F22: 32 affected and 115 unaffected members, F48: 16 affected and 44 unaffected members; Welch families F50: 5 affected and 6 unaffected members; U.S. family of Ashkenazi Jewish F59: 4 affected and 4 unaffected members
SNP/Region/Marker Size	44 variants
Predominant Ethnicity
Population	Scottish, Welsh and Ashkenazi Jewish

Detail Info

Sample Diagnosis	Schedule for Affective Disorders and Schizophrenia-Lifetime Version (SADS-L), DSM-IV criteria
Sample Status	two Scottish families with BPAD and recurrent major depressive disorder; a Welsh family with SCZ and schizoaffective disorder; and a large U.S. family of Ashkenazi Jewish origin with BPAD, SCZ, recurrent major depressive disorder, and related conditions
Technique	Identification of New Microsatellite Markers, P1 Derived Artificial Chromosome (PAC) Subcloning, Production of Filters, Oligo Hybridization, DNA Preparation, Sequencing, Primer Design, PCR and Microsatellite Genotyping,
Statistical Method	Two-point parametric linkage analyses were performed by using the program MLINK from the LINKAGE package. They also developed a novel allele-sharing method to assess the extent of allele sharing within genes between the families.
Result Summary	They describe an increase in the F22 LOD score for this region. Definition and comparison of the linked haplotypes allowed us to prioritize two subregions of 3.8 and 4.4 Mb. Analysis of the extent of allele sharing within these subregions identified 200 kb that shows increased allele sharing between families. Linkage of BPAD to chromosome 4p has been strengthened. Haplotype analysis in the additional linked families refined the 20-Mb linkage region. Development of a novel allele-sharing method allowed us to bridge the gap between conventional linkage and association studies. Description of a 200-kb region of increased allele sharing prioritizes this region, which contains two functional candidate genes for BPAD, SLC2A9, and WDR1, for subsequent studies.

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

Gene	Statistical Values/Author Comments	Result Category
SLC2A9	We examined the 48 SNPs in the significant shared region and thirty-three of the SNPs are in SLC2A9....... We examined the 48 SNPs in the significant shared region and thirty-three of the SNPs are in SLC2A9. Description of a 200-kb region of increased allele sharing prioritizes this region, which contains two functional candidate genes for BPAD, SLC2A9, and WDR1, for subsequent studies. More...	Trend
WDR1	We examined the 48 SNPs in the significant shared region and thirteen are in WDR1, a WD repeat domai...... We examined the 48 SNPs in the significant shared region and thirteen are in WDR1, a WD repeat domain protein. Description of a 200-kb region of increased allele sharing prioritizes this region, which contains two functional candidate genes for BPAD, SLC2A9, and WDR1, for subsequent studies. More...	Trend

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