Prevalence of Alpha-1 Antitrypsin Deficiency Alleles in a Lithuanian Cohort of Wheezing Small Children.

IF 1.8 Q3 RESPIRATORY SYSTEM Advances in respiratory medicine Pub Date : 2024-08-05 DOI:10.3390/arm92040028
Edita Poluzioroviene, Joanna Chorostowska-Wynimko, Sigita Petraitiene, Arunas Strumila, Adriana Rozy, Aneta Zdral, Arunas Valiulis
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Abstract

Severe inherited alpha-1 antitrypsin deficiency (AATD) is an autosomal genetic condition linked to chronic obstructive pulmonary disease (COPD). The significance of heterozygous, milder deficiency variants (PiSZ, PiMZ, PiMS) is less clear. We studied AATD genotypes in 145 children (up to 72 months old) with assessed wheezing severity using the Pediatric Respiratory Assessment Measure (BCCH PRAM score). A control group of 74 children without airway obstruction was included. AAT concentration and Pi phenotype were determined from dry blood spot samples using nephelometry and real-time PCR; PiS and PiZ alleles were identified by isoelectrofocusing. Among the wheezers, the Pi*S allele incidence was 2.07% (3 cases) and the Pi*Z allele was 6.9% (10 cases). The Pi*Z allele frequency was higher in wheezers compared to controls (44.8% vs. 20.27%) and the general Lithuanian population (44.8% vs. 13.6%) and was similar to adult COPD patients in Lithuania: Pi*S 10.3% vs. 15.8% and Pi*Z 44.8% vs. 46.1%. No association was found between AAT genotypes and wheezing severity. Finding that wheezer children exhibit a frequency of Z* and S* alleles like that found in adults with COPD suggests a potential genetic predisposition that links early wheezing in children to the development of COPD in adulthood. Larger cohort studies are needed to confirm this finding.

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立陶宛喘息小儿队列中 Alpha-1 抗胰蛋白酶缺陷等位基因的流行率。
严重遗传性α-1抗胰蛋白酶缺乏症(AATD)是一种常染色体遗传病,与慢性阻塞性肺病(COPD)有关。杂合子、轻度缺乏症变异型(PiSZ、PiMZ、PiMS)的意义尚不明确。我们对 145 名儿童(72 个月以下)的 AATD 基因型进行了研究,并使用儿科呼吸评估量表(BCH PRAM 评分)评估了喘息的严重程度。对照组包括 74 名无气道阻塞的儿童。使用肾压计和实时聚合酶链反应测定干血斑样本中的 AAT 浓度和 Pi 表型;通过等电聚焦法鉴定 PiS 和 PiZ 等位基因。在喘息者中,Pi*S 等位基因发生率为 2.07%(3 例),Pi*Z 等位基因发生率为 6.9%(10 例)。与对照组(44.8% 对 20.27%)和立陶宛普通人群(44.8% 对 13.6%)相比,喘息者的 Pi*Z 等位基因频率较高,与立陶宛的慢性阻塞性肺病成年患者相似:Pi*S为10.3%对15.8%,Pi*Z为44.8%对46.1%。AAT 基因型与喘息严重程度之间没有关联。发现喘息儿童的 Z* 和 S* 等位基因频率与患有慢性阻塞性肺病的成人相同,这表明儿童早期喘息与成年后慢性阻塞性肺病的发展之间存在潜在的遗传倾向。要证实这一发现,还需要更大规模的队列研究。
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来源期刊
Advances in respiratory medicine
Advances in respiratory medicine RESPIRATORY SYSTEM-
CiteScore
2.60
自引率
0.00%
发文量
90
期刊介绍: "Advances in Respiratory Medicine" is a new international title for "Pneumonologia i Alergologia Polska", edited bimonthly and addressed to respiratory professionals. The Journal contains peer-reviewed original research papers, short communications, case-reports, recommendations of the Polish Respiratory Society concerning the diagnosis and treatment of lung diseases, editorials, postgraduate education articles, letters and book reviews in the field of pneumonology, allergology, oncology, immunology and infectious diseases. "Advances in Respiratory Medicine" is an open access, official journal of Polish Society of Lung Diseases, Polish Society of Allergology and National Research Institute of Tuberculosis and Lung Diseases.
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