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A genome screen of a large bipolar affective disorder pedigree supports evidence for a susceptibility locus on chromosome 13q.
Mol Psychiatry. 2001 Jul; 6(4):396-403.MP

Abstract

Bipolar affective disorder is a severe mood disorder that afflicts approximately 1% of the population worldwide. Twin and adoption studies have indicated that genetic factors contribute to the disorder and while many chromosomal regions have been implicated, no susceptibility genes have been identified. In this present study, we undertook a 10 cM genome screen using 400 microsatellite markers in a large multigenerational bipolar pedigree consisting of 40 individuals, including six affecteds. We found strongest evidence for linkage to chromosome 13q14. A maximum NPL score of 4.09 (P = 0.008) was obtained between markers D13S1272 and D13S153 using GENEHUNTER. A maximum two-point LOD score of 2.91 (theta = 0.0) was found for marker D13S153 and a maximum three-point LOD score of 3.0 was obtained between markers D13S291 and D13S153 under a recessive model with 90% maximum age-specific penetrance and including bipolar I and unipolar individuals as affected. Several other markers in the region, D13S175, D13S218, D13S263, and D13S156 had two-point LOD scores greater than 1.5. These results meet the criteria for evidence of suggestive linkage. Haplotype analysis enabled us to narrow the likely disease region to a 6 cM region between markers D13S1272 and D13S1319, which contains the serotonin 2A receptor candidate gene. Two single nucleotide polymorphisms were identified in this gene but we did not detect any significant differences in allele frequency in a case-control sample. The region on chromosome 13q14-32 has previously been implicated in other bipolar and schizophrenia cohorts. Our results provide further support for the existence of a susceptibility locus on chromosome 13q14.

Authors+Show Affiliations

Garvan Institute of Medical Research, Sydney, 2010 Australia.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

11443523

Citation

Badenhop, R F., et al. "A Genome Screen of a Large Bipolar Affective Disorder Pedigree Supports Evidence for a Susceptibility Locus On Chromosome 13q." Molecular Psychiatry, vol. 6, no. 4, 2001, pp. 396-403.
Badenhop RF, Moses MJ, Scimone A, et al. A genome screen of a large bipolar affective disorder pedigree supports evidence for a susceptibility locus on chromosome 13q. Mol Psychiatry. 2001;6(4):396-403.
Badenhop, R. F., Moses, M. J., Scimone, A., Mitchell, P. B., Ewen, K. R., Rosso, A., Donald, J. A., Adams, L. J., & Schofield, P. R. (2001). A genome screen of a large bipolar affective disorder pedigree supports evidence for a susceptibility locus on chromosome 13q. Molecular Psychiatry, 6(4), 396-403.
Badenhop RF, et al. A Genome Screen of a Large Bipolar Affective Disorder Pedigree Supports Evidence for a Susceptibility Locus On Chromosome 13q. Mol Psychiatry. 2001;6(4):396-403. PubMed PMID: 11443523.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A genome screen of a large bipolar affective disorder pedigree supports evidence for a susceptibility locus on chromosome 13q. AU - Badenhop,R F, AU - Moses,M J, AU - Scimone,A, AU - Mitchell,P B, AU - Ewen,K R, AU - Rosso,A, AU - Donald,J A, AU - Adams,L J, AU - Schofield,P R, PY - 2000/11/20/received PY - 2001/01/19/revised PY - 2001/01/24/accepted PY - 2001/7/10/pubmed PY - 2001/9/8/medline PY - 2001/7/10/entrez SP - 396 EP - 403 JF - Molecular psychiatry JO - Mol. Psychiatry VL - 6 IS - 4 N2 - Bipolar affective disorder is a severe mood disorder that afflicts approximately 1% of the population worldwide. Twin and adoption studies have indicated that genetic factors contribute to the disorder and while many chromosomal regions have been implicated, no susceptibility genes have been identified. In this present study, we undertook a 10 cM genome screen using 400 microsatellite markers in a large multigenerational bipolar pedigree consisting of 40 individuals, including six affecteds. We found strongest evidence for linkage to chromosome 13q14. A maximum NPL score of 4.09 (P = 0.008) was obtained between markers D13S1272 and D13S153 using GENEHUNTER. A maximum two-point LOD score of 2.91 (theta = 0.0) was found for marker D13S153 and a maximum three-point LOD score of 3.0 was obtained between markers D13S291 and D13S153 under a recessive model with 90% maximum age-specific penetrance and including bipolar I and unipolar individuals as affected. Several other markers in the region, D13S175, D13S218, D13S263, and D13S156 had two-point LOD scores greater than 1.5. These results meet the criteria for evidence of suggestive linkage. Haplotype analysis enabled us to narrow the likely disease region to a 6 cM region between markers D13S1272 and D13S1319, which contains the serotonin 2A receptor candidate gene. Two single nucleotide polymorphisms were identified in this gene but we did not detect any significant differences in allele frequency in a case-control sample. The region on chromosome 13q14-32 has previously been implicated in other bipolar and schizophrenia cohorts. Our results provide further support for the existence of a susceptibility locus on chromosome 13q14. SN - 1359-4184 UR - https://www.unboundmedicine.com/medline/citation/11443523/A_genome_screen_of_a_large_bipolar_affective_disorder_pedigree_supports_evidence_for_a_susceptibility_locus_on_chromosome_13q_ L2 - http://dx.doi.org/10.1038/sj.mp.4000887 DB - PRIME DP - Unbound Medicine ER -