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Influence of fibrillin-1 genotype on the aortic stiffness in men
University Hospitals of Coventry and Warwickshire, Walsgrave, Coventry, UK.
University Hospitals of Coventry and Warwickshire, Walsgrave, Coventry, UK.
University Hospitals of Coventry and Warwickshire, Walsgrave, Coventry, UK.
Linköping University, Department of Medicine and Care, Clinical Physiology. Linköping University, Faculty of Health Sciences.
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2005 (English)In: Journal of applied physiology, ISSN 8750-7587, E-ISSN 1522-1601, Vol. 99, no 3, 1036-1040 p.Article in journal (Refereed) Published
Abstract [en]

Aortic stiffness is a predictor of cardiovascular mortality. The mechanical properties of the arterial wall depend on the connective tissue framework, with variation in fibrillin-1 and collagen I genes being associated with aortic stiffness and/or pulse pressure elevation. The aim of this study was to investigate whether variation in fibrillin-1 genotype was associated with aortic stiffness in men. The mechanical properties of the abdominal aorta of 79 healthy men (range 28-81 yr) were investigated by ultrasonographic phase-locked echo tracking. Fibrillin-1 genotype, characterized by the variable tandem repeat in intron 28, and collagen type I alpha 1 genotype characterized by the 2,064 OT polymorphism, were determined by using DNA from peripheral blood cells. Three common fibrillin-1 genotypes, 2-2, 2-3, and 2-4, were observed in 50 (64%), 10 (13%), and 11 (14%) of the men, respectively. Those of 2-3 genotype had higher pressure strain elastic modulus and aortic stiffness compared with men of 2-2 or 2-4 genotype (P = 0.005). Pulse pressure also was increased in the 2-3 genotype (P = 0.04). There was no significant association between type 1 collagen genotype and aortic stiffness in this cohort. In conclusion, the fibrillin-1 2-3 genotype in men was associated with increased aortic stiffness and pulse pressure, indicative of an increased risk for cardiovascular disease. Copyright © 2005 the American Physiological Society.

Place, publisher, year, edition, pages
2005. Vol. 99, no 3, 1036-1040 p.
Keyword [en]
blood pressure, collagen, elastin, mechanics
National Category
Medical and Health Sciences
URN: urn:nbn:se:liu:diva-29056DOI: 10.1152/japplphysiol.00554.2004Local ID: 14310OAI: diva2:249868
Available from: 2009-10-09 Created: 2009-10-09 Last updated: 2012-12-10
In thesis
1. Influence of Genetics and Mechanical Properties on Large Arteries in Man
Open this publication in new window or tab >>Influence of Genetics and Mechanical Properties on Large Arteries in Man
2013 (English)Doctoral thesis, comprehensive summary (Other academic)
Abstract [en]

Arterial pathology is the major contributor to cardiovascular diseases and mortality. The mechanical properties of arteries are independent factors for cardiovascular disease and mortality, where genetics influence the structure of the arterial wall, which may result in change in arterial stiffness. The aims of this thesis were to study the mechanical properties of the popliteal artery (PA) in healthy subjects and the influence of angiotensin-converting enzyme (ACE) polymorphism and Fibrillin-1 (FBN1) polymorphism on large arteries. Further, the impact of FBN1 polymorphism on cardiovascular morbidity and mortality was investigated.

The PA is, after the abdominal aorta, the most common site of aneurysmal development. The PA was studied in healthy subject with ultrasound and the diameter increased and the distensibility decreased with age, with men having lower distensibility than women. This seems not to be the behavior of a true muscular artery but rather of a central elastic artery such as the aorta, and might have implications for the susceptibility to aneurysm formation, as well as the association of dilating disease between the PA and the aorta. The wall stress in the PA was low and unaffected by age, probably caused by a compensatory remodeling response with an increase in wall thickness. This indicates that other mechanisms than wall stress contribute to the process of pathological dilatation in the PA.

The ACE D allele may be associated with abdominal aortic aneurysm. Elderly men with the ACE D allele were associated with increased abdominal aortic stiffness compared to men carrying the I/I genotype. This suggests that the ACE D allele impairs arterial wall integrity, and in combination with local hemodynamic and other genetic factors it may have a roll in aneurysm formation.

The FBN1 2/3 genotype has been associated with increased systolic blood pressure. The FBN1 2/3 genotype in middle-aged men was associated with increased abdominal aortic stiffness and blood pressure which indicates an increased risk for developing cardiovascular disease. The increased presence of plaque in the carotid artery of middle-aged men with the FBN1 2/3 genotype indicates a pathological arterial wall remodeling with a more pronounced atherosclerotic burden, but did however not affect the risk of cardiovascular events and/or death in this population. This relationship needs to be studied further.

Place, publisher, year, edition, pages
Linköping: Linköping University Electronic Press, 2013. 77 p.
Linköping University Medical Dissertations, ISSN 0345-0082 ; 1340
National Category
urn:nbn:se:liu:diva-86144 (URN)978-91-7519-761-6 (ISBN)
Public defence
2013-01-25, Orginalet, Qulturum, Hus B4, , Länssjukhuset Ryhov, Jönköping, 09:00 (Swedish)
Available from: 2012-12-07 Created: 2012-12-07 Last updated: 2012-12-10Bibliographically approved

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Debasso, RachelLänne, Toste
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Clinical PhysiologyFaculty of Health SciencesDepartment of Thoracic and Vascular Surgery
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