title: Aldosterone synthase alleles and cardiovascular phenotype in young adults.
abstract: The C(-344)T promoter polymorphism of the human aldosterone synthase (CYP11B2) gene has been associated with hypertension and cardiac hypertrophy, but there were contrasting data. We analysed the genotype/phenotype associations between this polymorphism and cardiovascular variables in a young adult population, where interactions among genes, gene-environment, and acquired ageing-related organ damage are reduced. Anthropometric measurements, blood pressure, heart rate, left ventricular variables (by echocardiography), and carotid artery wall intimal-media thickness (by high-resolution sonography and digitalized morphometry) were taken in 420 white Caucasian students (mean age 23.5 years, s.d. 2.5 years). CYP11B2 alleles were detected by genomic polymerase chain reaction followed by digestion. Taking into account the three possible models of inheritance, we found no differences in the considered variables, except for an independent effect of the C(-344) allele on SBP in males (TT 125.6 (1.6), TC 128.4 (1.2) and CC 130.5 (2.2), mmHg, media (ES), P=0.03), and on interventricular septum thickness in diastole in females (CC 6.98 (0.12) vs TT 6.87 (0.09) and TC 6.87 (0.07), mmHg, P<0.01), in the codominant model. In conclusion, the CYP11B2 C(-344)T polymorphism appears to have a slight role in the cardiovascular phenotype of young healthy adults, even if these genotype/phenotype relationships might change with ageing.
authors.affiliation: Institute of Clinical Medicine, University of Ancona, Ancona, Italy. sarzani@unian.it
authors.forename: R
authors.initials: R
authors.lastname: Sarzani
authors.forename: F
authors.initials: F
authors.lastname: Salvi
authors.forename: P
authors.initials: P
authors.lastname: Dessì-Fulgheri
authors.forename: R
authors.initials: R
authors.lastname: Catalini
authors.forename: D
authors.initials: D
authors.lastname: Mazzara
authors.forename: G
authors.initials: G
authors.lastname: Cola
authors.forename: N
authors.initials: N
authors.lastname: Siragusa
authors.forename: D
authors.initials: D
authors.lastname: Spagnolo
authors.forename: P
authors.initials: P
authors.lastname: Ercolani
authors.forename: R
authors.initials: R
authors.lastname: Gesuita
authors.forename: F
authors.initials: F
authors.lastname: Carle
authors.forename: A
authors.initials: A
authors.lastname: Rappelli
mesh_terms: D000328:Adult; D000483:Alleles; D000704:Analysis of Variance; D000886:Anthropometry; D001794:Blood Pressure; D002318:Cardiovascular Diseases / Q000235:genetics*; D016009:Chi-Square Distribution; D019405:Cytochrome P-450 CYP11B2 / Q000235:genetics*; D005260:Female; D014644:Genetic Variation; D005838:Genotype; D006801:Humans; D008297:Male; D010641:Phenotype; D016133:Polymerase Chain Reaction
chemical_list: D019405:Cytochrome P-450 CYP11B2