Document Detail

Candidate locus analysis of familial ascending aortic aneurysms and dissections confirms the linkage to the chromosome 5q13-14 in Finnish families.
MedLine Citation:
PMID:  12878945     Owner:  NLM     Status:  MEDLINE    
OBJECTIVE: The purpose of the study was to carry out a candidate gene analysis in families with familial thoracic aortic aneurysms and dissections. METHODS: The study material consisted of 11 Finnish families (with 115 members genotyped) who underwent echocardiographic examination for measurement of the aortic root diameter. Selected candidate genes included the loci for Marfan and Ehlers-Danlos syndromes, the genes of matrix metalloproteinases 3 and 9 and tissue inhibitor of metalloproteinase 2 as well two loci on the chromosomes 5q13-14 and 11q23.2-q24, previously found to be linked to the disease. RESULTS: The chromosomal locus 5q13-14 was linked to the disease risk (nonparametric linkage score 3.0, P =.005) confirming the previous linkage. Other candidate genes and loci were excluded as major loci in these families. CONCLUSIONS: The identification of the gene at chromosomal location 5q13-14 causing the development of such diseases would give us important knowledge on the pathogenesis of the disease and enable the identification of subjects at risk. This in turn would lead to appropriate treatment before the occurrence of fatal complications and, likely, to the development of new treatment methods.
Sakari Kakko; Tuija Räisänen; Minna Tamminen; Juhani Airaksinen; Kaj Groundstroem; Tatu Juvonen; Antti Ylitalo; Paavo Uusimaa; Markku J Savolainen
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Publication Detail:
Type:  Comparative Study; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  The Journal of thoracic and cardiovascular surgery     Volume:  126     ISSN:  0022-5223     ISO Abbreviation:  J. Thorac. Cardiovasc. Surg.     Publication Date:  2003 Jul 
Date Detail:
Created Date:  2003-07-24     Completed Date:  2003-09-17     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  0376343     Medline TA:  J Thorac Cardiovasc Surg     Country:  United States    
Other Details:
Languages:  eng     Pagination:  106-13     Citation Subset:  AIM; IM    
Department of Internal Medicine and Biocenter Oulu, University of Oulu, Finland.
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MeSH Terms
Aged, 80 and over
Aneurysm, Dissecting / genetics*
Aorta / pathology*
Aortic Aneurysm, Thoracic / genetics*
Chromosome Mapping*
Chromosomes, Human, Pair 5 / genetics*
Coronary Disease / genetics
Family Health
Genetic Heterogeneity
Genetic Markers / genetics
Genetic Predisposition to Disease / genetics
Linkage (Genetics) / genetics*
Middle Aged
Reg. No./Substance:
0/Genetic Markers

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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