title: Ambulatory blood pressure, left ventricular mass and vascular phenotypes in relation to the endothelial nitric oxide synthase gene Glu298Asp and intron 4 polymorphisms in a population-based family study.
abstract: Reduced nitric oxide production is associated with pathological changes in the cardiovascular system. In a study of randomly chosen families, we analysed the relationship between two polymorphisms (Glu298Asp and intron 4) of the endothelial nitric oxide synthase (eNOS) and ambulatory blood pressure (ABP), left ventricular mass index (LVMI) and vascular phenotypes. The study population consisted of 127 parents and 167 offspring. All subjects underwent 24 h ABP monitoring using a SpaceLabs 90207 device. 2D and M-mode echocardiograms were obtained. Pulse wave velocity between the common carotid and femoral artery was measured with the Complior device, and the carotid intima-media thickness (IMT) was assessed by ultrasound. For statistical analysis, covariables and correlations between relatives were taken into account. The frequency of genotypes was as follows: for Glu298Asp: 55.1%-Glu/Glu, 40.1%-Glu/Asp and 4.8%-Asp/Asp; for intron 4: 65.0%-4 b/b, 33.3%-4 b/a and 1.7%-4 a/a, being in Hardy-Weinberg equilibrium (P > or = 0.29). There was no relationship between the eNOS gene polymorphisms and ABP or LVMI either in parents or their offspring. Among parents, carriers of the 298Asp allele had higher IMT values as compared with Glu/Glu homozygotes (0.94 vs 0.70 mm; P = 0.007). Among offspring, there was a similar tendency (0.60 vs 0.53 mm; P = 0.10), which was confirmed by transmission disequilibrium tests for quantitative variables (P > or = 0.07). Our findings indicate that the Glu298Asp polymorphism of eNOS identifies patients with larger carotid IMT, also in younger subjects.
authors.affiliation: First Cardiac Department, Medical College, Jagiellonian University, Cracow, Poland. dczarnecka@interia.pl
authors.forename: D
authors.initials: D
authors.lastname: Czarnecka
authors.forename: K
authors.initials: K
authors.lastname: Kawecka-Jaszcz
authors.forename: K
authors.initials: K
authors.lastname: Stolarz
authors.forename: A
authors.initials: A
authors.lastname: Olszanecka
authors.forename: A
authors.initials: A
authors.lastname: Dembińska-Kieć
authors.forename: B
authors.initials: B
authors.lastname: Kieć-Wilk
mesh_terms: D000293:Adolescent; D000328:Adult; D000367:Age Factors; D000483:Alleles; D001161:Arteriosclerosis / Q000201:enzymology / Q000453:epidemiology / Q000235:genetics*; D001794:Blood Pressure / Q000235:genetics*; D018660:Blood Pressure Monitoring, Ambulatory; D017536:Carotid Artery, Common / Q000000981:diagnostic imaging / Q000503:physiopathology; D002940:Circadian Rhythm / Q000502:physiology; D004452:Echocardiography; D005260:Female; D005263:Femoral Artery / Q000000981:diagnostic imaging / Q000503:physiopathology; D005787:Gene Frequency; D005838:Genotype; D006352:Heart Ventricles / Q000000981:diagnostic imaging* / Q000503:physiopathology; D006801:Humans; D007438:Introns / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D019001:Nitric Oxide Synthase / Q000097:blood / Q000235:genetics*; D052250:Nitric Oxide Synthase Type III; D009679:Nuclear Family; D011044:Poland / Q000453:epidemiology; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D011159:Population Surveillance; D015995:Prevalence; D020133:Reverse Transcriptase Polymerase Chain Reaction; D016277:Ventricular Function, Left / Q000502:physiology*
chemical_list: C496314:NOS3 protein, human; D019001:Nitric Oxide Synthase; D052250:Nitric Oxide Synthase Type III
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