Secondary Logo

Institutional members access full text with Ovid®

Genetic and environmental determinants of longitudinal stability of arterial stiffness and wave reflection

a twin study

Pucci, Giacomoa,b,*; Tarnoki, Adam D.c,d,*; Medda, Emanuelae,*; Tarnoki, David L.c,d; Littvay, Levented,f; Maurovich-Horvat, Palg; Jermendy, Adam L.g; Godor, Erikac; Fejer, Bencec; Hernyes, Anitac; Lucatelli, Pierleoneh; Fanelli, Fabrizioh; Farina, Filippoi; Baracchini, Claudioi; Meneghetti, Giorgioi; Jermendy, Gyorgyj; Merkely, Belag; Schillaci, Giuseppea,†; Fagnani, Corradoe; Stazi, Maria A.e

doi: 10.1097/HJH.0000000000001869

Background: We aimed at evaluating the impact of genetic and environmental factors on longitudinal changes in aortic pulse wave velocity (aPWV) and aortic augmentation index (aAIx).

Method: Three hundred and sixty-eight Italian and Hungarian adult twins (214 monozygotic, 154 dizygotic) underwent repeated evaluations of aPWV and aAIx (TensioMed Arteriograph). Within-individual/cross-wave, cross-twin/within-wave and cross-twin/cross-wave correlations were calculated; bivariate Cholesky models were fitted to calculate additive genetic (A), shared environmental (C) and unique environmental (E) components.

Results: For both aPWV and aAIx, cross-twin correlations in monozygotic pairs (r between 0.35 and 0.56) were all significant and always higher than in dizygotic pairs, both at wave 1 and at wave 2. Heritability and unshared environmental proportion of variance at each wave were substantially time-invariant for aPWV (heritability 0.51, 95% CI 0.36–0.63 at wave 1; 0.49, 95% CI 0.34–0.62 at wave 2), whereas for aAIx, we observed a diminished genetic effect (heritability 0.57, 95% CI 0.45–0.67 at wave 1; 0.37, 95% CI 0.21–0.51 at wave 2). Overlapping genetic factors explained a high proportion (0.88, 95% CI 0.61–1.00) of longitudinal covariance for aPWV, and had a relatively lower impact on aAIx (0.55, 95% CI 0.35–0.70). Genetic correlations of aPWV (r = 0.64, 95% CI 0.42–0.85) and aAIx (r = 0.70, 95% CI 0.52–0.87) between waves were lower than 1, suggesting a potential contribution of novel genetic variance on arterial stiffening.

Conclusion: Changes in aPWV and aAIx over time are largely genetically determined. Our results might stimulate further studies on genetic and epigenetic factors influencing the process of vascular ageing.

aDepartment of Medicine, University of Perugia, Perugia

bUnit of Internal Medicine, Terni University Hospital, Terni, Italy

cDepartment of Radiology, Semmelweis University

dHungarian Twin Registry, Budapest, Hungary

eItalian Twin Registry, Centre for Behavioural Sciences and Mental Health, Istituto Superiore di Sanità, Rome, Italy

fCentral European University

gMTA-SE Cardiovascular Imaging Research Group, Heart and Vascular Center, Semmelweis University, Budapest, Hungary

hVascular and Interventional Radiology Unit, Department of Radiological, Oncological and Anatomo-Pathological Sciences, Sapienza University, Rome

iDepartment of Neurosciences, University of Padua School of Medicine, Padua, Italy

j3rd Department of Internal Medicine, Bajcsy Zsilinszky Hospital, Budapest, Hungary

Correspondence to Dr Giacomo Pucci, Unit of Internal Medicine, Terni University Hospital, Piazzale Tristano di Joannuccio, 1 IT-05100 Terni, Italy. Tel: +39 0744 205201; fax: +39 0744 205201; e-mail:

Abbreviations: aAIx, aortic augmentation index; aPWV, aortic pulse wave velocity; BP, blood pressure; EVA, early vascular ageing; HR, heart rate; MAP, mean arterial pressure; NO, nitric oxide

Received 11 December, 2017

Revised 29 May, 2018

Accepted 26 June, 2018

Copyright © 2018 Wolters Kluwer Health, Inc. All rights reserved.