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Linkage analysis of a Swedish kindred provides further support for a susceptibility locus for schizophrenia on chromosome 6p23
Umeå University, Faculty of Medicine, Department of Clinical Sciences, Psychiatry.
Umeå University, Faculty of Medicine, Department of Clinical Sciences, Psychiatry.
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1999 (English)In: American Journal of Medical Genetics, ISSN 0148-7299, E-ISSN 1096-8628, Vol. 88, no 4, 369-377 p.Article in journal (Refereed) Published
Abstract [en]

Several reports have indicated genetic linkage between markers on the short arm of chromosome 6 and schizophrenia. However, significant threshold levels were not always achieved, and the chromosomal regions identified are large and different in different families. One way to decrease the problem of heterogeneity is to study a single extended pedigree. Here we report the analysis of a very large, previously undescribed pedigree from northern Sweden that includes 31 affected individuals. We typed 16 markers spanning 40 cM on the short arm of chromosome 6. Linkage analysis was performed only with the affected individuals. Suggestive lod scores (maximum 2.6) were obtained with markers on chromosome 6p23 in a single branch of the large pedigree indicating possible heterogeneity inside the family. A haplotype comprising markers from D6S309 to D6S1578 was found to segregate with the disease. This chromosomal region is included within a segment proposed to contain a susceptibility gene for schizophrenia by many other investigators. Our results thus give further support for a possible localization of a susceptibility locus for schizophrenia in 6p23 and help to narrow the candidate chromosomal region to the segment included between markers D6S309 and D6S1578. Copyright 1999 Wiley-Liss, Inc.

Place, publisher, year, edition, pages
1999. Vol. 88, no 4, 369-377 p.
Keyword [en]
schizophrenia, chromosome 6, disease susceptibility, lod score
URN: urn:nbn:se:umu:diva-4829DOI: 10.1002/(SICI)1096-8628(19990820)88:4<369::AID-AJMG14>3.0.CO;2-9PubMedID: 10402504OAI: diva2:144079
Available from: 2005-11-17 Created: 2005-11-17 Last updated: 2010-10-05Bibliographically approved
In thesis
1. Diagnostic Evaluation of Schizophrenia for Genetic Studies
Open this publication in new window or tab >>Diagnostic Evaluation of Schizophrenia for Genetic Studies
2005 (English)Doctoral thesis, comprehensive summary (Other academic)
Abstract [en]

Schizophrenia is one of the most severe mental disorders. Heredity is accepted as a major causative factor. To find molecular mechanisms behind schizophrenia, patient materials with reliable and valid diagnoses must be identified. In order to compare schizophrenia diagnostic procedures for reliability, validity and suitability for genetic studies by evaluation of record information, interview and register diagnostic data and to examine patient materials for linkage or association with molecular genetic markers three patient materials were recruited: sporadic cases, a large pedigree and sib-pairs.

Schizophrenia diagnoses based on patient records only, showed good to excellent agreement with diagnoses based on both records and interviews. Register diagnoses generally displayed poor agreement with research diagnoses, but in 94% of patients sometimes registered as schizophrenic psychoses a research diagnosis of these disorders was certified. In the pedigree, analysis suggested linkage to chr 6p23 in a single branch of the pedigree, and a genome scan indicated linkage to the 6q25 region. A genome scan analysis of the sib-pair material was suggestive of linkage to chr 10q25.3-q26.3. In the case-control sample and a meta-analysis there was an association between a dopamine D2 receptor polymorphism (Ser311Cys), on chr 11q22-23, and the disorder. Brain-derived neurotrophic factor gene variants (chr 11p13) were also analysed without any robust significant findings.

For patients in long-term treatment for schizophrenia in Sweden, psychiatric record reviews should be valid, reliable and sufficient for assessment of lifetime research diagnosis. Swedish register diagnosis of schizophrenic psychoses has a high positive predictive power in relation to corresponding research diagnoses. For future Swedish studies focusing on a broad definition of schizophrenia, it is sufficient to rely on the register diagnoses of schizophrenic psychosis. There is no major vulnerability gene or locus that is common to the majority of patients with schizophrenia, indicating genetic heterogeneity.

Place, publisher, year, edition, pages
Umeå: Klinisk vetenskap, 2005. 70 p.
Umeå University medical dissertations, ISSN 0346-6612 ; 993
Psychiatry, Schizophrenia, Diagnostic evaluation, Molecular genetic studies, Linkage, Association, Psykiatri
National Category
Research subject
urn:nbn:se:umu:diva-637 (URN)91-7305-970-6 (ISBN)
Public defence
2005-12-09, D, Tandläkarhögskolan, Norrlands universitetssjukhus, Umeå, 09:00 (English)
Available from: 2005-11-17 Created: 2005-11-17 Last updated: 2010-05-06Bibliographically approved

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