umu.sePublications
Change search
CiteExportLink to record
Permanent link

Direct link
Cite
Citation style
  • apa
  • ieee
  • modern-language-association-8th-edition
  • vancouver
  • Other style
More styles
Language
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Other locale
More languages
Output format
  • html
  • text
  • asciidoc
  • rtf
The genetic contribution to stroke in northern Sweden
Umeå University, Faculty of Medicine, Medical Biosciences, Medical and Clinical Genetics. Umeå University, Faculty of Medicine, Public Health and Clinical Medicine, Medicine. (Dan Holmberg)
2010 (English)Doctoral thesis, comprehensive summary (Other academic)Alternative title
Genetikens roll för stroke i norra Sverige (English)
Abstract [en]

Stroke is a common multi factorial cerebrovascular disorder with a large impact on global health. It is a disorder primarily associated with old age but environmental factors, lifestyle choices and medical history are all important for the risk of developing the disorder. It is also known that heritability is important for predisposition to the disorder. The aim of this work has been to identify genetic variations that increase the risk of being affected by stroke in the population of northern Sweden, a population well apt for genetic studies due to well kept church and medical records together with limited genetic diversity.

In the first paper we used linkage analysis in families with early onset of stroke. By this approach we identified a region on chromosome 5q to be linked to an increased risk of developing stroke, a region previously identified as a susceptibility locus for stroke in the Icelandic population. In the second study we used genealogy to identify common ancestry and thereby identify common susceptibility to stroke. The seven families we connected showed significant linkage to the chromosome 9q31-33 region and four of the families shared a common haplotype over 2.1 megabases. In the third manuscript we investigated sequence variation of two candidate genes, TNFSF15 and TLR4. Sequencing of the TLR4 gene revealed previously identified variations in affected individuals from two of the families. Further SNP analysis showed five separate haplotypes among the investigated families and four haplotypes for TNFSF15. However none of these co-segregated with stroke among the investigated families. In the final paper we used a case-control stroke cohort to ascertain association for genetic variation in five genes and genetic regions previously suggested to be linked with stroke. Initial analyses showed association for the 9p21 chromosomal region and a variant in Factor 5 that showed protection against stroke, but after adjustments for common risk factors for stroke, the findings were no longer significant.

In conclusion, by studying selected families we have been able to show linkage to two chromosomal regions, 5q and 9q31-33, that indicate genetic predisposition for developing stroke. Further we have shown that family based studies are still an important tool in deciphering the underlying mechanisms for complex disease.

Place, publisher, year, edition, pages
Umeå: Umeå university , 2010. , 70 p.
Series
Umeå University medical dissertations, ISSN 0346-6612 ; 1329
Keyword [en]
Northern Sweden, stroke, genetics, genome wide scan, association, 5q13, 9q31-33
National Category
Medical Genetics
Research subject
Medical Genetics
Identifiers
URN: urn:nbn:se:umu:diva-31929ISBN: 978-91-7264-947-7 (print)OAI: oai:DiVA.org:umu-31929DiVA: diva2:300153
Public defence
2010-03-19, Hörsal Betula, BY 6M, Norrlands Universitetssjukhus, Umeå, 09:00 (English)
Opponent
Supervisors
Available from: 2010-02-26 Created: 2010-02-24 Last updated: 2010-02-26Bibliographically approved
List of papers
1. A novel stroke susceptibility locus mapped to chromosome 9q in an extended pedigree from northern Sweden
Open this publication in new window or tab >>A novel stroke susceptibility locus mapped to chromosome 9q in an extended pedigree from northern Sweden
Show others...
(English)Manuscript (preprint) (Other academic)
National Category
Medical and Health Sciences
Identifiers
urn:nbn:se:umu:diva-5387 (URN)
Available from: 2006-10-10 Created: 2006-10-10 Last updated: 2016-08-22Bibliographically approved
2. Genome-wide linkage scan of common stroke in families from northern Sweden.
Open this publication in new window or tab >>Genome-wide linkage scan of common stroke in families from northern Sweden.
Show others...
2007 (English)In: Stroke, ISSN 0039-2499, E-ISSN 1524-4628, Vol. 38, no 1, 34-40 p.Article in journal (Other academic) Published
Keyword
Aged, Chromosome Mapping/*methods, Chromosomes; Human; Pair 13/genetics, Chromosomes; Human; Pair 18/genetics, Chromosomes; Human; Pair 5/genetics, DNA Mutational Analysis, Female, Gene Frequency/genetics, Genetic Predisposition to Disease/epidemiology/*genetics, Genetic Screening, Genetic Variation/genetics, Genome; Human/*genetics, Humans, Male, Middle Aged, Stroke/epidemiology/*genetics, Sweden/epidemiology
Identifiers
urn:nbn:se:umu:diva-11537 (URN)10.1161/01.STR.0000251643.37454.16 (DOI)17122438 (PubMedID)
Available from: 2009-01-13 Created: 2009-01-13 Last updated: 2017-12-14Bibliographically approved
3. Analysis of TLR4 and TNFSF15 as candidate genes for stroke in an extended pedigree
Open this publication in new window or tab >>Analysis of TLR4 and TNFSF15 as candidate genes for stroke in an extended pedigree
Show others...
(English)Manuscript (preprint) (Other academic)
Identifiers
urn:nbn:se:umu:diva-32026 (URN)
Available from: 2010-02-26 Created: 2010-02-26 Last updated: 2010-02-26Bibliographically approved
4. Analysis of genetic risk factors for ischemic stroke in the Northern Sweden population
Open this publication in new window or tab >>Analysis of genetic risk factors for ischemic stroke in the Northern Sweden population
Show others...
(English)Manuscript (preprint) (Other academic)
Identifiers
urn:nbn:se:umu:diva-32027 (URN)
Available from: 2010-02-26 Created: 2010-02-26 Last updated: 2010-02-26Bibliographically approved

Open Access in DiVA

Kappa(719 kB)691 downloads
File information
File name FULLTEXT01.pdfFile size 719 kBChecksum SHA-512
931f06bf474ce59af8a97c52d6c41538678551fa3c69a0a8467ab1b2cabace2744ec21df81ef41f068e74bcb2081740bb8c92441b91c1ea9b053d4cafed92db1
Type fulltextMimetype application/pdf

Search in DiVA

By author/editor
Janunger, Tomas
By organisation
Medical and Clinical GeneticsMedicine
Medical Genetics

Search outside of DiVA

GoogleGoogle Scholar
Total: 691 downloads
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

isbn
urn-nbn

Altmetric score

isbn
urn-nbn
Total: 485 hits
CiteExportLink to record
Permanent link

Direct link
Cite
Citation style
  • apa
  • ieee
  • modern-language-association-8th-edition
  • vancouver
  • Other style
More styles
Language
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Other locale
More languages
Output format
  • html
  • text
  • asciidoc
  • rtf