Candidate locus analysis of familial ascending aortic aneurysms and dissections confirms the linkage to the chromosome 5q13-14 in Finnish families.
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.
Kakko
Sakari
S
Department of Internal Medicine and Biocenter Oulu, University of Oulu, Finland.
Räisänen
Tuija
T
Tamminen
Minna
M
Airaksinen
Juhani
J
Groundstroem
Kaj
K
Juvonen
Tatu
T
Ylitalo
Antti
A
Uusimaa
Paavo
P
Savolainen
Markku J
MJ
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000784:Aortic Dissection / Q000235:genetics*; D001011:Aorta / Q000473:pathology*; D017545:Aortic Aneurysm, Thoracic / Q000235:genetics*; D002874:Chromosome Mapping; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D003327:Coronary Disease / Q000235:genetics; D005192:Family Health; D005260:Female; D005387:Finland; D018740:Genetic Heterogeneity; D008040:Genetic Linkage / Q000235:genetics*; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree
D005819:Genetic Markers