Alpha- and beta-adrenergic receptor polymorphisms in hypertensive and normotensive offspring
Alpha- and beta-adrenergic receptor polymorphisms in hypertensive and normotensive offspring
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DOI：
10.2459/01.jcm.0000223252.34611.87
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发表时间：
2006-05-01
影响因子：
3
通讯作者：
Pitzalis, Maria Vittoria
中科院分区：
文献类型：
--
作者：
Iacoviello, Massimo;Forleo, Cinzia;Pitzalis, Maria Vittoria
背景高血压家族的后代以动脉血压值较高和心率自主控制功能低下为特征。本研究旨在验证这些差异是否与α和β肾上腺素能受体（AR）基因功能相关多态性的不同基因型分布有关。（FH+，n = 56）和无（FH-，n = 53）高血压家族史，接受动脉压评估; 24小时心电图监测，以评估自主心率控制的时域参数[即平均RR间期（NN）、RR间期的SD（SDNN）和连续RR间期差的均方根（rMSSD）];频谱压力反射敏感性测量;和回声多普勒评估舒张功能和左心室质量。用聚合酶链反应-限制性片段多态性分析方法对它们进行了以下多态性的鉴定：α（1a）-AR中的Arg 492 Cys，α（2b）-AR中的DeI 301 -303，β（1）-AR中的Ser 49 Gly和Arg 389 Gly，β 2-AR的50个前导顺反子Arg 19 Cys、Arg 16 Gly和Gln 27 Glu。结果FH+个体收缩压升高，较低的SDNN和较大的等容舒张时间相比，血压正常的后代。当考虑所研究的多态性的基因型分布时，两组之间没有发现差异。结论α（1a）-AR Cys 492等位基因多态性与原发性高血压家族史无关，α（2b）-、β（1）-和β（2）-AR基因功能相关多态性与原发性高血压家族史无关。α（1a）-AR基因的Arg 492 Cys多态性虽然与高血压家族史无关，但与心率的自主控制密切相关。J.B. Vasc Med 7：316-321（C）2006意大利心脏病学联合会。
Background The offspring of hypertensive families are characterized by higher arterial blood pressure values and a depressed autonomic control of heart rate. The present study aimed to verify whether these differences are associated with a different genotype distribution of functionally relevant polymorphisms of the alpha- and beta-adrenergic receptor (AR) genes.Methods We selected 109 age- and sex-matched young normotensive subjects with (FH+, n = 56) and without (FH-, n = 53) a family history of hypertension who underwent evaluation of arterial pressure; 24-h electrocardiogram monitoring to assess time-domain parameters of autonomic heart rate control [i.e. mean RR interval (NN), SD of RR intervals (SDNN) and mean square root of the differences of consecutive RR intervals (rMSSD)]; spectral baroreflex sensitivity measurement; and echo-Doppler to assess diastolic function and left ventricular mass. They were also characterized for the following polymorphisms by means of polymerase chain reaction-restriction fragment polymorphism analysis: Arg492Cys in the alpha(1a)-AR; DeI301-303 in the alpha(2b)-AR; Ser49Gly and Arg389Gly in the beta(1)-AR; and the 50 leader cistron Arg19Cys, Arg16Gly and Gln27Glu in the beta(2)-AR.Results FH+individuals showed a higher systolic pressure, a lower SDNN and a greater isovolumic relaxation time compared to normotensive offspring. No differences were found between the two groups when genotype distribution of the studied polymorphisms was considered. Subjects carrying alpha(1a)-AR Cys492 allelic variant showed lower values of NN, SDNN and rMSSD, independent of age, gender and body mass index.Conclusions The functionally relevant polymorphisms of alpha(2b)-, beta(1)- and beta(2)-AR genes are not associated with a family history of essential hypertension. The Arg492Cys polymorphism of the alpha(1a)-AR gene, although not associated with a family history of hypertension, was strongly related to autonomic control of heart rate. J Cardiovasc Med 7: 316-321 (C) 2006 Italian Federation of Cardiology.