Department of Clinical and Molecular Medicine, Sapienza University of Rome, Rome, Italy.
Division of Pulmonology, AO Sant' Andrea, Rome, Italy.
J Cell Physiol. 2016 Aug;231(8):1745-51. doi: 10.1002/jcp.25277. Epub 2016 Jan 15.
Chronic Obstructive Pulmonary Disease (COPD) is a common preventable and treatable disease, characterized by persistent airflow limitation not fully reversible. However, a number of patients with COPD respond to bronchodilator agents. Some studies have shown polymorphisms in the b2-adrenergic (ADRb2) and muscarinic M2 and M3 receptors (CHRM) that may participate in the modulation of the receptor responses. This study was designed to investigate the existence and the role of adrenergic and muscarinic receptor polymorphisms and their functional impact in COPD. Eighty-two patients with COPD and 17 healthy smokers were recruited and screened for ADRb2 (T164I and R175R), for CHRM2 (rs1824024) and for CHRM3 (-513C/A and -492C/T). Among the polymorphisms studied our results was not able to demonstrate statistically significant association between the polymorphisms studied and COPD risk. Contrarily, we identified, in our COPD population, a significant association with the CHRM2 (rs1824024) polymorphism and disease severity, with lower lung function test values, frequent exacerbations, and poor response to anti-cholinergic drugs. These results suggest the potential role of receptor polymorphism assessment to discriminate newly COPD phenotypes. J. Cell. Physiol. 231: 1745-1751, 2016. © 2015 Wiley Periodicals, Inc.
慢性阻塞性肺疾病（COPD）是一种常见的可预防和可治疗的疾病，其特征是持续的气流受限不完全可逆。然而，许多 COPD 患者对支气管扩张剂有反应。一些研究表明，β2-肾上腺素能（ADRb2）和毒蕈碱 M2 和 M3 受体（CHRM）的多态性可能参与了受体反应的调节。本研究旨在探讨肾上腺素能和毒蕈碱受体多态性的存在及其在 COPD 中的作用及其功能影响。招募并筛选了 82 例 COPD 患者和 17 名健康吸烟者的 ADRb2（T164I 和 R175R）、CHRM2（rs1824024）和 CHRM3（-513C/A 和-492C/T）多态性。在研究的多态性中，我们的结果未能证明研究的多态性与 COPD 风险之间存在统计学显著相关性。相反，我们在 COPD 人群中发现，CHRM2（rs1824024）多态性与疾病严重程度显著相关，肺功能检查值较低，频繁发作，以及对抗胆碱能药物反应不佳。这些结果表明，受体多态性评估有可能区分新的 COPD 表型。J.细胞。生理学。231:1745-1751,2016。2015 年 Wiley 期刊，Inc.
