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	Badenhop, R. F.,2003 PMID: 12555231
Citation	Badenhop, R. F., M. J. Moses, et al. (2003). "Genetic refinement and physical mapping of a 2.3 Mb probable disease region associated with a bipolar affective disorder susceptibility locus on chromosome 4q35." Am J Med Genet B Neuropsychiatr Genet 117B(1): 23-32.
Disease Type	Bipolar Disorder
Study Design	pedigree
Study Type	Candidate-region linkage study
Sample Size	55 pedigrees (674 individuals, 214 affecteds)
SNP/Region/Marker Size	Twenty nine microsatellite markers spanning 50cM on 4q35
Predominant Ethnicity	Caucasian
Population	Australian

Detail Info

Sample Diagnosis	RDC
Sample Status	The families were ascertained as part of an ongoing bipolar genetics study via the Mood Disorders Unit,Prince of Wales Hospital/School of Psychiatry, University of New South Wales, Sydney, Australia. Medium to large multigenerational pedigrees with illness over at least two generations and containing a minimum of three affected individuals, at least two of whom were diagnosed with bipolar I (BPI), were recruited. Families were almost entirely of British or Irish descent. All marrying-in individuals were routinely questioned about any family history of psychiatric illness to ensure unilateral descent of bipolar disorder in the pedigrees. The pedigree cohort in the present study is comprised of 55 pedigrees, including the 11 pedigrees used in our previous study of the 4q35 region [Adams et al., 1998]. The cohort is made up of 36 extended pedigrees, eight nuclear pedigrees with multiple affected offspring, and 11 affected sib pairs with parents. The 55 pedigrees contain 983 individuals with 674 individuals available for analysis including 214 affected individuals. In total, there are 108 individuals with BPI, 13 with bipolar II (BPII), 30 with schizoaffective disorder-manic type (SZ/MA), and 63 with recurrent unipolar depression (UP). The average number of individuals per pedigree is 11.8, with an average number of affected individuals per pedigree of 3.7.
Technique	genotyping
Statistical Method	Two-point LOD score analysis was carried out using the ANALYZE package [Terwilliger, 1996]. Three diseases and two penetrance models were used in the analysis. In disease model I, individuals diagnosed with BPI or SZ/MA were classified as affected and all other family members were classified as unaffected. In model II, individuals diagnosed with BPI, SZ/MA, or BPII were classified as affected and all other family members were considered unaffected. In model III, individuals diagnosed with BPI, SZ/MA, and BPII or UP were classified as affected and all other family members were considered unaffected.
Result Summary	This analysis indicated that the percentage sharing of alleles, identical-by-descent, in affecteds of all linked pedigrees increases from 60% at the centromeric markers to 75% for markers at the telomere. Maximal allele sharing occurred between markers D4S3051 and 4qTEL13 with this 24 cM region defining a probable disease region. We have constructed a physical map of the 4q35 interval consisting of a YAC contig and BAC clones. Based on this map the probable disease region between D4S3051 and 4qTEL13 corresponds to only 2.3 Mb. This region is very gene poor with only three known genes indicated from the YAC/BAC map. The small number of genes will facilitate systematic screening for variations associated with bipolar disorder.

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