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	Savitz, J.,2007 PMID: 17171663
Citation	Savitz, J., C. L. Cupido, et al. (2007). "Preliminary evidence for linkage to chromosome 1q31-32, 10q23.3, and 16p13.3 in a South African cohort with bipolar disorder." Am J Med Genet B Neuropsychiatr Genet 144B(3): 383-387.
Disease Type	Bipolar Disorder
Study Design	pedigree
Study Type	Candidate-region linkage study
Sample Size	47 BPD pedigrees (N=350)
SNP/Region/Marker Size	27 microsatellite markers in nine different chromosomal regions
Predominant Ethnicity	Caucasian
Population	South African

Detail Info

Sample Diagnosis	DSM
Sample Status	A sample of 47 Caucasian families comprising 350 individuals of mostly Afrikaner and British origin were recruited. All subjects signed the University of Cape Town Research Ethics Committee-approved (081/96 and 195/2000) consent forms. Probands and their relatives were interviewed with the Structured Clinical Interview for DSM-IV Axis I Disorders (SCID) [First et al., 1996]. According to the SCID interview, approximately half (55.5%) of the BPDI sample had a history of psychosis, defined as the presence of delusions or hallucinations. The Afrikaners owe their origin to a small Dutch population of about 2,000 individuals who arrived at the Cape of Good Hope in 1652. Over approximately 15 generations this founder group have expanded in size to about 3 million people and display a higher degree of background linkage disequilibrium (3-6 cM) than outbred populations [Gordon et al., 2000; Hall et al., 2002], facilitating genetic analyses.
Technique	genotyping
Statistical Method	A non-parametric linkage analysis using a combination of the Merlin (Multipoint Engine for Rapid Likelihood Inference)[Abecasis et al., 2002] and SimWalk2 [Sobel and Lange, 1996;Sobel et al., 2001] packages was carried out on the data.
Result Summary	Three polymorphic markers per region of interest (3 x 9) were typed in a Caucasian cohort of Afrikaner and British origin. Statistically significant evidence for linkage was obtained at 1q31-32, 10q23.3, and 16p13.3 with maximum NPL scores of 2.52, 2.01, and 1.84, respectively. Our results add to the growing evidence that these chromosomal regions harbor genetic variants that play a role in the development of bipolar spectrum illness. Negative results were obtained for the remaining six candidate loci, possibly due to limited statistical power.

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

Region	Statistical Values	Author Comments	Result Category
10q23.3	Combined Merlin-SimWalk2 Analyses: For marker D10S1753, NPL-pair = 0.33, P-value = 0.4754; For marker D10S564, NPL-pair = 0.3, P-value = 0.5044; For marker D10S1171, NPL-pair = 0.58, P-value = 0.2619	No significant linkage was found in this region. No significant linkage was found in this region.	Negative
13q32	Combined Merlin-SimWalk2 Analyses: For marker D13S1298, NPL-pair = 0.29, P-value = 0.5151; For marker D13S1271, NPL-pair = 1.2, P-value = 0.063; For marker D13S1284, NPL-pair = 0.51, P-value = 0.3079	No significant linkage was found in this region. No significant linkage was found in this region.	Negative
12q24.2	Combined Merlin-SimWalk2 Analyses: For marker D12S86, NPL-pair = 0.5, P-value = 0.3135; For marker D12S1612 NPL-pair = 0.57, P-value = 0.2682	No significant linkage was found in this region. No significant linkage was found in this region.	Negative
15q12	Combined Merlin-SimWalk2 Analyses: NPL-pair = 0.53, P-value = 0.2755	No significant linkage was found in this region. No significant linkage was found in this region.	Negative
15q11.2	Combined Merlin-SimWalk2 Analyses: NPL-pair = 0.52, P-value = 0.3012	No significant linkage was found in this region. No significant linkage was found in this region.	Negative
16p13.3	Combined Merlin-SimWalk2 Analyses: For marker D16S3024, NPL-pair = 1.47, P-value = 0.0339; For marker D16S3027, NPL-pair = 1.84, P-value = 0.0144; For marker D16S3088, NPL-pair = 1.37, P-value = 0.043	Significant linkage was found in this region(P-value < 0.05)...... Significant linkage was found in this region(P-value < 0.05). More...	Positive
15q13.1	Combined Merlin-SimWalk2 Analyses: NPL-pair = 0.13, P-value = 0.7468	No significant linkage was found in this region. No significant linkage was found in this region.	Negative
1q32.1	Combined Merlin-SimWalk2 Analyses: For marker D1S2655, NPL-pair = 1.5, P-value = 0.0319; For marker D1S1678, NPL-pair = 1.34, P-value = 0.0454	Significant linkage was found in this region(P-value < 0.05)...... Significant linkage was found in this region(P-value < 0.05). More...	Positive
1q31.3	Combined Merlin-SimWalk2 Analyses: NPL-pair = 1.82, P-value = 0.0151	Significant linkage was found in this region(P-value < 0.05)...... Significant linkage was found in this region(P-value < 0.05). More...	Positive
2q33.3	Combined Merlin-SimWalk2 Analyses: For marker D2S2321, NPL-pair = 0.45, P-value = 0.3534; For marker D2S2208, NPL-pair = 0.25, P-value = 0.5648	No significant linkage was found in this region. No significant linkage was found in this region.	Negative
22q11.2	Combined Merlin-SimWalk2 Analyses: For marker D22S421, NPL-pair = 0.04, P-value = 0.9106; For marker D22S315, NPL-pair = 0.1, P-value = 0.8029; For marker D22S1164, NPL-pair = 0.04, P-value = 0.9124	No significant linkage was found in this region. No significant linkage was found in this region.	Negative
4p16.1	Combined Merlin-SimWalk2 Analyses: For marker D4S394, NPL-pair = 0.35, P-value = 0.4412; For marker D4S983, NPL-pair = 0.12, P-value = 0.7665; For marker D4S1582, NPL-pair = 0.19, P-value = 0.6442	No significant linkage was found in this region. No significant linkage was found in this region.	Negative