Change search
ReferencesLink to record
Permanent link

Direct link
Reconstruction of ancestral haplotypes in a 12-generation schizophrenia pedigree
Umeå University, Faculty of Medicine, Department of Clinical Sciences, Psychiatry.
Show others and affiliations
2004 (English)In: Psychiatric Genetics, ISSN 0955-8829, E-ISSN 1473-5873, Vol. 14, no 1, 1-8 p.Article in journal (Refereed) PublishedText
Abstract [en]

We searched for candidate chromosomal regions inherited identical by descent in 19 patients suffering from schizophrenia or schizoaffective disorder that are related 12 generations back, to an ancestral couple born in the middle of the seventeenth century. To accomplish this goal, we constructed complete chromosomal haplotypes for each patient using genotype data from 450 markers. In total, 12 haplotype regions (with sizes ranging from 0.6 to 10.9 cM) constituted by three markers each were identical in three or more of the affected individuals. The largest genomic segment was located on 6q25, a region previously shown to be significantly more frequent in patients than controls, and proposed to contain a schizophrenia susceptibility locus. For the remaining 11 candidate haplotypes, we estimated haplotype frequencies from all the 43 affected members collected from the same family and 46 unrelated control individuals. This analysis indicated that at least four of the 11 candidate haplotypes are ancestral, since the frequencies were significantly higher in patients than in controls. Five additional haplotypes showed higher estimated frequencies in the patients but the differences were not significant. Interestingly, five of these 11 genomic regions are located in, or close to, candidate regions previously suggested to contain susceptibility genes for schizophrenia. The regions are 5q21-23, 8p21-22, 1 0p13-15, 13q12-13 and 22q12-13. Several of these haplotypes are probably ancestral linkage disequilibrium blocks inherited from the original couple. There exists, however, the possibility that one or more of these regions harbour schizophrenia susceptibility loci that may have epistatic interactions among them.

Place, publisher, year, edition, pages
Philadelphia: Lippincott Williams & Wilkins, 2004. Vol. 14, no 1, 1-8 p.
Keyword [en]
psychiatric genetics, schizophrenia, ancestral haplotypes, susceptibility loci
National Category
Neurosciences Neurology Medical Genetics
URN: urn:nbn:se:umu:diva-122177DOI: 10.1097/01.ypg.0000084941.07075.f9ISI: 000220670800001PubMedID: 15091309OAI: diva2:938921
Available from: 2016-06-17 Created: 2016-06-15 Last updated: 2016-06-17Bibliographically approved

Open Access in DiVA

No full text

Other links

Publisher's full textPubMed

Search in DiVA

By author/editor
Åberg, KarolinaEkholm, BirgitAdolfsson, Rolf
By organisation
In the same journal
Psychiatric Genetics
NeurosciencesNeurologyMedical Genetics

Search outside of DiVA

GoogleGoogle Scholar
The number of downloads is the sum of all downloads of full texts. It may include eg previous versions that are now no longer available

Altmetric score

Total: 2 hits
ReferencesLink to record
Permanent link

Direct link