Castellano M, Barlassina C, Muiesan M L, Beschi M, Cinelli A, Rossi F, Rizzoni D, Cusi D, Agabiti-Rosei E
Department of Medical Sciences, University of Brescia, Italy.
J Hypertens. 1997 Dec;15(12 Pt 2):1707-10. doi: 10.1097/00004872-199715120-00076.
Previous studies have shown that molecular variants of the cytoskeletal protein adducin may be involved in regulation of blood pressure both in genetic rat hypertension and in human essential hypertension.
To investigate the relationship of genetic polymorphism of alpha-adducin with blood pressure, cardiovascular structure, and some biochemical indexes of cardiovascular risk in a sample of general population.
A sample of 246 subjects (124 men and 122 women, aged 57.7+/-3.7 years) was randomly chosen from a middle-aged population. Twenty-four-hour ambulatory blood pressure, as well as left ventricular mass (by echocardiographic methods) and carotid wall thickness (by B-mode ultrasound methods) were measured. DNA was extracted from peripheral blood samples; the Gly460Trp diallelic variant of human alpha-adducin was genotyped by polymerase chain reaction amplification and then allele-specific oligo hybridization.
A trend toward higher 24 h ambulatory blood pressure values in subjects not treated with antihypertensive drugs was observed among carriers of Trp460 allele, although the differences did not attain statistical significance (at closest, P = 0.066 for a dominant effect of Trp460 on systolic blood pressure). When blood pressure was considered a dichotomous variable, allowing the inclusion of treated hypertensives), a higher prevalence of Trp460 allele among hypertensives was observed (0.188 versus 0.106 among normotensives, P= 0.02). There was no evidence of association either of left ventricular mass or of common carotid wall thickness with Gly460Trp polymorphism.
In this sample of a general population, the relationship of a genetic polymorphism of alpha-adducin with blood pressure values was rather weak. However, a population-based case-control analysis indicated that there was an association between Trp460 allele and hypertension, with a relative risk for subjects carrying at least one Trp460 allele of approximately 1.6. Further investigation of larger and different population samples in order to assess the role of adducin gene polymorphism as a marker of genetic predisposition to the development of hypertension is warranted.
先前的研究表明，细胞骨架蛋白内收蛋白的分子变异可能参与遗传性大鼠高血压和人类原发性高血压的血压调节。
在普通人群样本中研究α-内收蛋白基因多态性与血压、心血管结构以及心血管风险的一些生化指标之间的关系。
从中年人群中随机选取246名受试者（124名男性和122名女性，年龄57.7±3.7岁）。测量24小时动态血压、左心室质量（采用超声心动图方法）和颈动脉壁厚度（采用B型超声方法）。从外周血样本中提取DNA；通过聚合酶链反应扩增对人α-内收蛋白的Gly460Trp双等位基因变异进行基因分型，然后进行等位基因特异性寡核苷酸杂交。
在未接受抗高血压药物治疗的受试者中，观察到Trp460等位基因携带者的24小时动态血压值有升高趋势，尽管差异未达到统计学显著性（最接近时，Trp460对收缩压的显性效应P = 0.066）。当将血压视为二分变量（包括接受治疗的高血压患者）时，观察到高血压患者中Trp460等位基因的患病率较高（高血压患者中为0.188，正常血压者中为0.106，P = 0.02）。没有证据表明左心室质量或颈总动脉壁厚度与Gly460Trp多态性有关。
在这个普通人群样本中，α-内收蛋白基因多态性与血压值之间的关系相当微弱。然而，基于人群的病例对照分析表明，Trp460等位基因与高血压之间存在关联，携带至少一个Trp460等位基因的受试者的相对风险约为1.6。有必要进一步研究更大且不同的人群样本，以评估内收蛋白基因多态性作为高血压发生遗传易感性标志物的作用。
