Sousa Ana Célia, Palma Dos Reis Roberto, Pereira Andreia, Borges Sofia, Freitas Ana Isabel, Guerra Graça, Góis Teresa, Rodrigues Mariana, Henriques Eva, Freitas Sónia, Ornelas Ilídio, Pereira Décio, Brehm António, Mendonça Maria Isabel
Funchal Hospital Center, Research Unit, Avenida Luís de Camões, n° 57, Funchal, Madeira Faculty of Medical Sciences, New University of Lisbon, Campo dos Mártires da Pátria, Lisboa Laboratory of Human Genetics, Madeira University, Campus da Penteada, Funchal-Madeira, Portugal.
Medicine (Baltimore). 2017 Oct;96(42):e7861. doi: 10.1097/MD.0000000000007861.
Essential hypertension (EH) is a complex disease in which physiological, environmental, and genetic factors are involved in its genesis. The genetic variant of the alpha-adducin gene (ADD1) has been described as a risk factor for EH, but with controversial results.The objective of this study was to evaluate the association of ADD1 (Gly460Trp) gene polymorphism with the EH risk in a population from Madeira Island.A case-control study with 1614 individuals of Caucasian origin was performed, including 817 individuals with EH and 797 controls. Cases and controls were matched for sex and age, by frequency-matching method. All participants collected blood for biochemical and genotypic analysis for the Gly460Trp polymorphism. We further investigated which variables were independently associated to EH, and, consequently, analyzed their interactions.In our study, we found a significant association between the ADD1 gene polymorphism and EH (odds ratio 2.484, P = .01). This association remained statistically significant after the multivariate analysis (odds ratio 2.548, P = .02).The ADD1 Gly460Trp gene polymorphism is significantly and independently associated with EH risk in our population. The knowledge of genetic polymorphisms associated with EH is of paramount importance because it leads to a better understanding of the etiology and pathophysiology of this pathology.
原发性高血压（EH）是一种复杂的疾病，其发病机制涉及生理、环境和遗传因素。α - 内收蛋白基因（ADD1）的基因变异已被描述为EH的一个危险因素，但结果存在争议。本研究的目的是评估马德拉岛人群中ADD1（Gly460Trp）基因多态性与EH风险的关联。我们进行了一项病例对照研究，纳入了1614名高加索裔个体，其中包括817例EH患者和797名对照。通过频率匹配法，病例和对照在性别和年龄上进行了匹配。所有参与者均采集血液用于Gly460Trp多态性的生化和基因分型分析。我们进一步研究了哪些变量与EH独立相关，并分析了它们之间的相互作用。在我们的研究中，我们发现ADD1基因多态性与EH之间存在显著关联（优势比2.484，P = 0.01）。多变量分析后，这种关联仍具有统计学意义（优势比2.548，P = 0.02）。在我们的人群中，ADD1 Gly460Trp基因多态性与EH风险显著且独立相关。了解与EH相关的基因多态性至关重要，因为这有助于更好地理解该疾病的病因和病理生理学。
