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.,2002 PMID: 12232778
Citation	Badenhop, R. F., M. J. Moses, et al. (2002). "A genome screen of 13 bipolar affective disorder pedigrees provides evidence for susceptibility loci on chromosome 3 as well as chromosomes 9, 13 and 19." Mol Psychiatry 7(8): 851-859.
Disease Type	Bipolar Disorder
Study Design	pedigree
Study Type	Genome-wide linkage study
Sample Size	13 pedigree cohort consisted of 231 individuals, including 69 affected members
SNP/Region/Marker Size	400 microsatellite markers across the whole genome
Predominant Ethnicity	Caucasian
Population	Australian

Detail Info

Sample Diagnosis	RDC
Sample Status	The pedigrees used in this study were ascertained as part of an ongoing bipolar genetics study via the Mood Disorders Unit, Prince of Wales Hospital/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) were recruited. Families were Caucasian and almost entirely of British or Irish descent. The pedigree cohort in the present study was comprised of 13 pedigrees made up of 293 members of whom 231 were available for analysis, including 69 affected individuals of which Ped 04 (40 individuals including six affecteds) has previously been reported.In total there were 33 individuals diagnosed with bipolar I (BPI), seven with schizoaffective disorder manic type (SZ/MA), four with bipolar II (BPII) and with recurrent unipolar depression (UP). The average number of individuals per pedigree was 17.7, with the average number of affected individuals per pedigree being 5.3.
Technique	genotyping
Statistical Method	Two-point LOD score analysis was carried out using the ANALYZE package.Non-parametric multipoint analyses were performed using GENEHUNTER.
Result Summary	Two-point heterogeneity LOD scores (HLODs) greater than 1.5 were obtained for 11 markers across the genome, with HLODs greater than 2.0 obtained for four of these markers. The strongest evidence for linkage was at 3q25-26 with a genome-wide maximum score of 2.49 at D3S1279. Six markers across a 50 cM region at 3q25-26 gave HLODs greater than 1.5, with three of these markers producing scores greater than 2.0. Multipoint analysis indicated a 20 cM peak between markers D3S1569 and D3S1614 with a maximum NPL of 2.8 (P = 0.004). Three other chromosomal regions yielded evidence for linkage: 9q31-q33, 13q14 and 19q12-q13. The regions on chromosomes 3q and 13q have previously been implicated in other bipolar and schizophrenia studies. In addition, several individual pedigrees gave LOD scores greater than 1.5 for previously reported bipolar susceptibility loci on chromosomes 18p11, 18q12, 22q11 and 8p22-23.

Regions reported by this study for BD (count: 11)

Region	Statistical Values	Author Comments	Result Category
19p13	Two-point LOD score analysis: HLOD = 1.55, theta = 0, Model: 0.9 recessive BPI, BPII, SZ/MA,	Suggestive linkage was found in this region(HLOD > 1.5). Suggestive linkage was found in this region(HLOD > 1.5).	Trend
3q25	Two-point LOD score analysis: HLOD = 2.49, theta = 0, Model: 0.6 dominant BPI, SZ/MA	Suggestive linkage was found in this region(HLOD > 1.5). Suggestive linkage was found in this region(HLOD > 1.5).	Trend
13p11	Two-point LOD score analysis: HLOD = 1.92, theta = 0, Model: 0.6 recessive BPI, SZ/MA	Suggestive linkage was found in this region(HLOD > 1.5). Suggestive linkage was found in this region(HLOD > 1.5).	Trend
13q14	Two-point LOD score analysis: HLOD = 2.29, theta = 0, Model: 0.9 recessive BPI, BPII, SZ/MA,	Suggestive linkage was found in this region(HLOD > 1.5). Suggestive linkage was found in this region(HLOD > 1.5).	Trend
8q24	Two-point LOD score analysis: HLOD = 2.08, theta = 0, Model: 0.9 dominant BPI, SZ/MA	Suggestive linkage was found in this region(HLOD > 1.5). Suggestive linkage was found in this region(HLOD > 1.5).	Trend
9p22	Two-point LOD score analysis: HLOD = 1.64, theta = 0, Model: 0.9 recessive BPI, BPII, SZ/MA	Suggestive linkage was found in this region(HLOD > 1.5). Suggestive linkage was found in this region(HLOD > 1.5).	Trend
3q26	Two-point LOD score analysis: HLOD = 1.5, theta = 0, Model: 0.9 dominant BPI, SZ/MA	Suggestive linkage was found in this region(HLOD > 1.5). Suggestive linkage was found in this region(HLOD > 1.5).	Trend
7p21.1	Two-point LOD score analysis: HLOD = 1.94, theta = 0.1, Model: 0.9 dominant BPI, BPII, SZ/MA, UP	Suggestive linkage was found in this region(HLOD > 1.5). Suggestive linkage was found in this region(HLOD > 1.5).	Trend
Xq21.1	Two-point LOD score analysis: HLOD = 2.48, theta = 0.14, Model: 0.9 X-linked BPI, BPII, SZ/MA,	Suggestive linkage was found in this region(HLOD > 1.5). Suggestive linkage was found in this region(HLOD > 1.5).	Trend
9q31	Two-point LOD score analysis: HLOD = 1.6, theta = 0, Model: 0.6 dominant BPI, BPII, SZ/MA	Suggestive linkage was found in this region(HLOD > 1.5). Suggestive linkage was found in this region(HLOD > 1.5).	Trend
9q32-q33	Two-point LOD score analysis: HLOD = 1.74, theta = 0.16, Model: 0.9 recessive BPI, BPII, SZ/MA	Suggestive linkage was found in this region(HLOD > 1.5). Suggestive linkage was found in this region(HLOD > 1.5).	Trend