Rodríguez-Reyna Tatiana S, Núñez-Alvarez Carlos, Cruz-Lagunas Alfredo, Posadas-Sánchez Rosalinda, Pérez-Hernández Nonanzit, Jiménez-Alvarez Luis, Ramírez-Martínez Gustavo, Granados Julio, Vargas-Alarcón Gilberto, Zúñiga Joaquín
Department of Immunology and Rheumatology, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán [National Institute of Medical Sciences and Nutrition Salvador Zubirán], Mexico City, Mexico
Department of Immunology and Rheumatology, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán [National Institute of Medical Sciences and Nutrition Salvador Zubirán], Mexico City, Mexico.
J Renin Angiotensin Aldosterone Syst. 2016 Aug 3;17(3). doi: 10.1177/1470320316659954. Print 2016 Jul.
Systemic sclerosis (SSc) shows variable clinical expression in different ethnic groups; vascular abnormalities are a prominent feature of this disease and its clinical expression may be influenced by genetic factors.
Herein, we describe 15 polymorphisms of the renin-angiotensin-aldosterone pathway in 170 Mexican admixed SSc patients (defined as patients with Mexican ancestry for at least 3 generations) and 199 healthy controls. We determined the presence of angiotensin II Type 1 receptor (AGTR1), angiotensin converting enzyme (ACE) and Endothelin 1 single nucleotide polymorphisms (SNPs) using 5' exonuclease TaqMan genotyping assays on a 7900HT real-time fast polymerase chain reaction (PCR) system.
These polymorphisms had a similar distribution between SSc patients and controls, but we found that the AGTR1 G-680T (rs275652) (p = 0.02; OR 3.5; 95%CI 1.2-10.4) and AGTR1 A-119G (rs275653) (p = 0.008; OR 4.2; 95% CI 1.5-12.1) polymorphisms were associated with severe vascular involvement in our SSc patients.
This is the first report of the association of these polymorphisms with vasculopathy in Mexican admixed SSc patients. Our findings suggested that the angiotensin II Type 1 receptor genotype may influence the clinical expression of vasculopathy in these patients. Functional analyses should follow.
系统性硬化症（SSc）在不同种族群体中表现出不同的临床症状；血管异常是该疾病的一个显著特征，其临床症状可能受遗传因素影响。
在此，我们描述了170名墨西哥裔混血SSc患者（定义为至少有三代墨西哥血统的患者）和199名健康对照者肾素 - 血管紧张素 - 醛固酮途径的15种多态性。我们使用7900HT实时快速聚合酶链反应（PCR）系统上的5'核酸外切酶TaqMan基因分型检测法，确定血管紧张素II 1型受体（AGTR1）、血管紧张素转换酶（ACE）和内皮素1单核苷酸多态性（SNP）的存在情况。
这些多态性在SSc患者和对照者之间分布相似，但我们发现AGTR1 G - 680T（rs275652）（p = 0.02；比值比3.5；95%置信区间1.2 - 10.4）和AGTR1 A - 119G（rs275653）（p = 0.008；比值比4.2；95%置信区间1.5 - 12.1）多态性与我们的SSc患者严重血管受累相关。
这是这些多态性与墨西哥裔混血SSc患者血管病变相关性的首次报告。我们的研究结果表明，血管紧张素II 1型受体基因型可能影响这些患者血管病变的临床症状。后续应进行功能分析。
