关键词: SARS-CoV-2 infection alpha-1 antitrypsin deficiency genetic mutations severe COVID-19

来  源:   DOI:10.3390/biomedicines11020516

Abstract:
BACKGROUND: Epidemiologic studies have reported that the geographical distribution of the prevalence of allelic variants of serine protein inhibitor-A1 (SERPINA1) and severe cases of COVID-19 were similar.
METHODS: A multicenter, cross-sectional, observational study to evaluate the frequency of alpha-1 antitrypsin deficiency (AATD) in patients with COVID-19 and whether it was associated with having suffered severe COVID-19.
RESULTS: 2022 patients who had laboratory-confirmed SARS-CoV-2 infection. Mutations associated with AATD were more frequent in severe COVID versus non-severe (23% vs. 18.8%, p = 0.022). The frequency of Pi*Z was 37.8/1000 in severe COVID versus 17.5/1000 in non-severe, p = 0.001. Having an A1AT level below 116 was more frequent in severe COVID versus non-severe (29.5% vs. 23.1, p = 0.003). Factors associated with a higher likelihood of severe COVID-19 were being male, older, smoking, age-associated comorbidities, and having an A1AT level below 116 mg/dL [OR 1.398, p = 0.003], and a variant of the SERPINA1 gene that could affect A1AT protein [OR 1.294, p = 0.022].
CONCLUSIONS: These observations suggest that patients with AATD should be considered at a higher risk of developing severe COVID-19. Further studies are needed on the role of A1AT in the prognosis of SARS-CoV-2 infection and its possible therapeutic role.
摘要:
背景:流行病学研究报道,丝氨酸蛋白抑制剂A1(SERPINA1)等位基因变体和COVID-19重症病例的患病率的地理分布相似。
方法:多中心,横截面,观察性研究,以评估COVID-19患者α-1抗胰蛋白酶缺乏症(AATD)的频率,以及是否与患有严重COVID-19有关。
结果:2022例实验室确诊的SARS-CoV-2感染患者。与AATD相关的突变在重度COVID中比在非重度中更常见(23%与18.8%,p=0.022)。严重COVID的Pi*Z频率为37.8/1000,非严重COVID的Pi*Z频率为17.5/1000,p=0.001。严重COVID的A1AT水平低于116的频率高于非严重COVID(29.5%vs.23.1,p=0.003)。与严重COVID-19可能性较高相关的因素是男性,年长的,吸烟,与年龄相关的合并症,A1AT水平低于116mg/dL[OR1.398,p=0.003],和可能影响A1AT蛋白的SERPINA1基因的变体[OR1.294,p=0.022]。
结论:这些观察结果表明,应考虑AATD患者发生严重COVID-19的风险较高。A1AT在SARS-CoV-2感染预后中的作用及其可能的治疗作用有待进一步研究。
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