背景:PI*S变体是α-1抗胰蛋白酶缺乏症(AATD)中最普遍的突变之一。尽管具有PI*SS基因型的个体发生AATD相关肺病的风险很低,但其患病率很高。我们的研究旨在表征这种基因型及其肺部疾病的风险,并使用来自欧洲Alpha-1抗胰蛋白酶缺乏研究合作国际注册的数据将其与PI*ZZ和PI*SZ基因型进行比较。
方法:人口统计学,临床,功能,和生活质量(QoL)参数进行评估,以比较PI*SS特征与PI*SZ和PI*ZZ对照。对最重要的混杂变量进行1:3最近邻匹配的倾向评分。
结果:该研究包括1007名个体,PI*SS(n=56;5.6%),PI*ZZ(n=578;57.4%)和PI*SZ(n=373;37.0%)。PI*SS人口由58.9%的男性组成,平均年龄为59.2岁,平均FEV1(预测百分比)为83.4%。与PI*ZZ个体相比,他们患肺病的频率较低(71.4%vs.82.2%,p=0.037),COPD(41.4%vs.60%,p=0.002),和肺气肿(23.2%vs.51.9%,p<0.001)和更好的保留肺功能,更少的恶化,较低水平的呼吸困难,和更好的QoL。相比之下,PI*SS和PI*SZ的肺部疾病患病率差异无统计学意义,或肺功能参数,恶化,呼吸困难,或QoL。
结论:我们发现,正如预期的那样,与PI*ZZ相比,与PI*SS基因型相关的肺病风险显著降低,但与PI*SZ个体中观察到的没有区别,尽管有较高的血清AAT水平。
背景:www.
结果:gov(ID:NCT04180319)。
BACKGROUND: The PI*S variant is one of the most prevalent mutations within alpha-1 antitrypsin deficiency (AATD). The risk of developing AATD-related lung disease in individuals with the PI*SS genotype is poorly defined despite its substantial prevalence. Our study aimed to characterize this genotype and its risk for lung disease and compare it with the PI*ZZ and PI*SZ genotypes using data from the European Alpha-1 antitrypsin Deficiency Research Collaboration international registry.
METHODS: Demographic, clinical, functional, and quality of life (QoL) parameters were assessed to compare the PI*SS characteristics with the PI*SZ and PI*ZZ controls. A propensity score with 1:3 nearest-neighbour matching was performed for the most important confounding variables.
RESULTS: The study included 1007 individuals, with PI*SS (n = 56; 5.6%), PI*ZZ (n = 578; 57.4%) and PI*SZ (n = 373; 37.0%). The PI*SS population consisted of 58.9% men, with a mean age of 59.2 years and a mean FEV1(% predicted) of 83.4%. Compared to PI*ZZ individuals they had less frequent lung disease (71.4% vs. 82.2%, p = 0.037), COPD (41.4% vs. 60%, p = 0.002), and emphysema (23.2% vs. 51.9%, p < 0.001) and better preserved lung function, fewer exacerbations, lower level of dyspnoea, and better QoL. In contrast, no significant differences were found in the prevalence of lung diseases between PI*SS and PI*SZ, or lung function parameters, exacerbations, dyspnoea, or QoL.
CONCLUSIONS: We found that, as expected, the risk of lung disease associated with the PI*SS genotype is significantly lower compared with PI*ZZ, but does not differ from that observed in PI*SZ individuals, despite having higher serum AAT levels.
BACKGROUND: www.
RESULTS: gov (ID: NCT04180319).