动脉僵硬度和颈动脉内膜中层厚度的遗传性：一项意大利双胞胎研究。

Heritability of arterial stiffness and carotid intima-media thickness: an Italian twin study.

机构信息

Istituto Superiore di Sanità, National Centre for Epidemiology, Surveillance and Health Promotion, Genetic Epidemiology Unit, Viale Regina Elena 299, 00161 Rome, Italy.

出版信息

Nutr Metab Cardiovasc Dis. 2014 May;24(5):511-7. doi: 10.1016/j.numecd.2013.10.031. Epub 2013 Dec 4.

DOI:10.1016/j.numecd.2013.10.031

PMID:24582685

Abstract

BACKGROUND AND AIMS

Carotid intima-media thickness (IMT) and arterial stiffness parameters, including aortic augmentation index (AIx) and pulse wave velocity (PWV), are independent predictors of stroke and cardiovascular disease. Genetic effects on these traits were never explored in a Mediterranean country. The present study aims to quantify the contribution of genes, environment and age to carotid IMT and aortic Aix and PWV.

METHODS AND RESULTS

The twin design was used. A total of 348 adult twins from the Italian Twin Register underwent measurements of carotid IMT and aortic PWV and AIx in three university hospitals located in Rome, Padua and Perugia. Carotid IMT was measured by B-mode ultrasound, aortic PWV and AIx by Arteriograph. Genetic modelling was performed to decompose total variance of traits into genetic, shared and unshared environmental and age components. For each phenotype, the best-fitting model included additive genetic, unshared environmental and age effects. For IMT, heritability was 0.32 (95% confidence interval (CI): 0.25-0.38), unshared environmental component was 0.25 (0.18-0.32) and age contribution was 0.44 (0.39-0.49). For AIx and PWV, heritabilities were 0.42 (0.29-0.55) and 0.49 (0.35-0.62), unshared environmental components were 0.31 (0.22-0.44) and 0.37 (0.26-0.51) and age contributions were 0.27 (0.16-0.39) and 0.14 (0.06-0.24), respectively.

CONCLUSION

This study shows substantial genetic and unshared environmental influences on carotid intima-media thickness and arterial stiffness and confirms the relevant role of age in the aetiology of these traits. Further support is provided for prevention and health promotion strategies based on modifiable factors.

摘要

背景与目的

颈动脉内膜-中层厚度（IMT）和动脉僵硬度参数，包括主动脉增强指数（AIx）和脉搏波速度（PWV），是中风和心血管疾病的独立预测因子。在一个地中海国家，从未对这些特征的遗传影响进行过探索。本研究旨在量化基因、环境和年龄对颈动脉 IMT 和主动脉 Aix 和 PWV 的影响。

方法与结果

本研究采用双胞胎设计。意大利双胞胎登记处的 348 名成年双胞胎在罗马、帕多瓦和佩鲁贾的三所大学医院接受颈动脉 IMT 和主动脉 PWV 和 AIx 的测量。颈动脉 IMT 通过 B 型超声测量，主动脉 PWV 和 AIx 通过 Arteriograph 测量。遗传模型用于将特征的总方差分解为遗传、共享和非共享环境和年龄成分。对于每种表型，最佳拟合模型包括加性遗传、非共享环境和年龄效应。对于 IMT，遗传率为 0.32（95%置信区间[CI]：0.25-0.38），非共享环境部分为 0.25（0.18-0.32），年龄贡献为 0.44（0.39-0.49）。对于 AIx 和 PWV，遗传率分别为 0.42（0.29-0.55）和 0.49（0.35-0.62），非共享环境部分分别为 0.31（0.22-0.44）和 0.37（0.26-0.51），年龄贡献分别为 0.27（0.16-0.39）和 0.14（0.06-0.24）。