Universidade do Estado do Rio de Janeiro, Rio de Janeiro, RJ, Brasil.
Instituto de Biologia, Universidade do Estado do Rio de Janeiro, Rio de Janeiro, RJ, Brasil.
Arq Bras Cardiol. 2020 Apr;114(4):616-624. doi: 10.36660/abc.20190187. Epub 2020 May 29.
Background The role of Ser49Gly beta1-adrenergic receptor genetic polymorphism (ADBR1-GP-Ser49Gly) as a predictor of death in heart failure (HF) is not established for the Brazilian population. Objectives To evaluate the association between ADBR1-GP-Ser49Gly and clinical outcomes in individuals with HF with reduced ejection fraction. Methods Secondary analysis of medical records of 178 patients and genotypes of GPRβ1-Ser49Gly variants, classified as Ser-Ser, Ser-Gly and Gly-Gly. To evaluate their association with clinical outcome. A significance level of 5% was adopted. Results Cohort means were: clinical follow-up 6.7 years, age 63.5 years, 64.6% of men and 55.1% of whites. HF etiologies were predominantly ischemic (31.5%), idiopathic (23.6%) and hypertensive (15.7%). The genetic profile was distributed as follows: 122 Ser-Ser (68.5%), 52 Ser-Gly (28.7%) and 5 Gly-Gly (2.8%). There was a significant association between these genotypes and mean NYHA functional class at the end of follow-up (p = 0.014) with Gly-Gly being associated with less advanced NYHA. In relation to the clinical outcomes, there was a significant association (p = 0.026) between mortality and GPRβ1-Ser49Gly: the number of deaths in patients with Ser-Gly (12) or Gly-Gly (1) was lower than in those with Ser-Ser (54). The Gly allele had an independent protective effect maintained after multivariate analysis and was associated with a reduction of 63% in the risk of death (p = 0.03; Odds Ratio 0.37 - CI 0.15-0.91). Conclusion The presence of β1-AR-GP Gly-Gly was associated with better clinical outcome evaluated by NYHA functional class and was a predictor of lower risk of mortality, regardless of other factors, in a 6.7-year of follow-up. (Arq Bras Cardiol. 2020; 114(4):613-615).
背景 对于巴西人群，β1-肾上腺素能受体基因多态性（ADBR1-GP-Ser49Gly）作为心力衰竭（HF）死亡预测因子的作用尚未确定。目的 评估β1-肾上腺素能受体基因多态性（ADBR1-GP-Ser49Gly）与射血分数降低的心力衰竭（HF）患者临床结局之间的关系。方法 对 178 例患者的病历和 GPRβ1-Ser49Gly 变体的基因型进行二次分析，分为 Ser-Ser、Ser-Gly 和 Gly-Gly 三种类型。评估它们与临床结局的相关性。采用 5%的显著性水平。结果 队列平均值为：临床随访 6.7 年，年龄 63.5 岁，64.6%为男性，55.1%为白人。HF 的病因主要为缺血性（31.5%）、特发性（23.6%）和高血压性（15.7%）。遗传谱分布如下：122 例 Ser-Ser（68.5%）、52 例 Ser-Gly（28.7%）和 5 例 Gly-Gly（2.8%）。这些基因型与随访结束时平均 NYHA 心功能分级显著相关（p = 0.014），Gly-Gly 与 NYHA 心功能分级较低相关。关于临床结局，GPRβ1-Ser49Gly 与死亡率显著相关（p = 0.026）：Ser-Gly（12 例）或 Gly-Gly（1 例）患者的死亡人数低于 Ser-Ser（54 例）患者。Gly 等位基因具有独立的保护作用，在多变量分析后仍然存在，与死亡风险降低 63%相关（p = 0.03；比值比 0.37-95%置信区间 0.15-0.91）。结论 在 6.7 年的随访中，β1-AR-GP Gly-Gly 的存在与 NYHA 心功能分级评估的更好临床结局相关，并且是降低死亡率风险的预测因子，而与其他因素无关。（Arq Bras Cardiol. 2020; 114(4):613-615）。
