title: Influence of fibrillin-1 genotype on the aortic stiffness in men.
abstract: 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 G>T 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.
authors.affiliation: University Hospital of Coventry, Walsgrave, United Kingdom.
authors.forename: J T
authors.initials: JT
authors.lastname: Powell
authors.forename: R J
authors.initials: RJ
authors.lastname: Turner
authors.forename: M
authors.initials: M
authors.lastname: Sian
authors.forename: R
authors.initials: R
authors.lastname: Debasso
authors.forename: T
authors.initials: T
authors.lastname: Länne
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001011:Aorta / Q000000981:diagnostic imaging* / Q000502:physiology*; D017544:Aortic Aneurysm, Abdominal / Q000000981:diagnostic imaging / Q000503:physiopathology; D015331:Cohort Studies; D024042:Collagen Type I / Q000235:genetics*; D000090602:Collagen Type I, alpha 1 Chain; D004548:Elasticity; D000071838:Fibrillin-1; D000071837:Fibrillins; D020869:Gene Expression Profiling; D005786:Gene Expression Regulation / Q000502:physiology; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005820:Genetic Testing / Q000379:methods; D005838:Genotype; D006801:Humans; D007090:Image Interpretation, Computer-Assisted / Q000379:methods; D008297:Male; D008840:Microfilament Proteins / Q000235:genetics*; D008875:Middle Aged; D018570:Risk Assessment / Q000379:methods; D012307:Risk Factors; D014463:Ultrasonography; D054392:Adipokines
chemical_list: D024042:Collagen Type I; D000090602:Collagen Type I, alpha 1 Chain; D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; C000716127:COL1A1 protein, human; C000605722:FBN1 protein, human; D054392:Adipokines