Déficit de alfa 1 antitripsina en pacientes con EPOC: estudio de corte transversal

Sorroche, Patricia; Acquier, Mariano Fernández; Jové, Orlando López; Giugno, Eduardo; Pace, Salvador; Livellara, Beatriz; Oyhamburu, José; Sáez, María Soledad Cruz

doi:10.1016/j.arbres.2015.01.008

Cited by 17 publications

(2 citation statements)

References 23 publications

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“…However, most of the subjects evaluated with AATd showed a different genotype than S or Z. In addition, Kevorkof et al [28] and Sorroche and colleagues [29] in their respective cohorts also found a high number of patients with genotype different than S or Z with AATd. These studies show the importance of evaluating different variants that could be involved in the development of COPD.…”

Section: Discussionmentioning

confidence: 99%

Haplotype in SERPINA1 (AAT) Is Associated with Reduced Risk for COPD in a Mexican Mestizo Population

Ponce-Gallegos

Pérez-Rubio

García-Carmona

et al. 2019

IJMS

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Protease inhibitor S (PiS) and protease inhibitor Z (PiZ) variants in the SERPINA1 gene are the main genetics factors associated with COPD; however, investigations about other polymorphisms are scanty. The aim of this study was to evaluate two missense single nucleotide polymorphisms (SNPs) (rs709932 and rs1303) in the SERPINA1 gene in Mexican mestizo patients with chronic obstructive pulmonary disease (COPD) related to tobacco smoking and biomass-burning exposure. 1700 subjects were genotyped and divided into four groups: COPD related to tobacco smoking (COPD-S, n = 297), COPD related to biomass-burning exposure (COPD-BB, n = 178), smokers without COPD (SWOC, n = 674), and biomass-burning exposed subjects (BBES, n = 551) by real-time PCR. Moreover, the patients’ groups were divided according to their exacerbations’ frequency. We carried out a haplotype analysis. We did not find differences in allele and genotype frequencies between groups in unadjusted and adjusted analyses, neither with these SNPs and lung function decline. Exacerbations’ frequency is not associated with these SNPs. However, we found a haplotype with major alleles (CT) associated with reduced risk for COPD (p < 0.05). Our analysis reveals that SNPs different from PiS and PiZ (rs709932 and rs1303) in the SERPINA1 gene are not associated with COPD and lung function decline in a Mexican mestizo population. However, a haplotype shaped by both major alleles (CT haplotype) is associated with reduced risk for COPD.

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Section: Discussionmentioning

confidence: 99%

Haplotype in SERPINA1 (AAT) Is Associated with Reduced Risk for COPD in a Mexican Mestizo Population

Ponce-Gallegos

Pérez-Rubio

García-Carmona

et al. 2019

IJMS

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“…An example of the deficiency of alpha-1-antitripsin. 23 The data we analysed demonstrate that obstruction occurred quite as frequently in the subpopulation of patients aged 18-29 years. In this group, grade 1 obstruction (lowgrade obstruction, FEV1 > 80%) was diagnosed in as many as 116 out of 160 patients (72.5%) (Figure 1).…”

Section: Discussionmentioning

confidence: 77%

Spirometry in the prophylaxis of respiratory system diseases – a retrospective study

Waczyński

Brejtfus²,

Romaszko-Wojtowicz

et al. 2021

Pol. Ann. Med.

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Introduction: Diseases of the respiratory system are the third cause of mortality worldwide in terms of incidence. A spirometry test enables early detection of changes in the respiratory tract of persons with minor ailments, as well as the diagnosis of a fairly advanced illness whose symptoms have been neglected by the patient. Aim: The aim of this study has been to identify any irregularities in spirometry tests in the population of the province of Warmia and Mazury. Material and methods: The study covered 1061 persons living in the province of Warmia and Mazury, of which 637 patients (188 women and 249 men) were included in the analysis. The participants provided their basic demographic and medical data through a survey. Each participant underwent a spirometry test according to the European Respiratory Society and American Thoracic Society 2005 guidelines. Statistical analysis was carried out in a Statistica software package. Results and Discussion: The study showed that women smoke significantly less than men – the average pack years for women and men were 4.02 (SD 9.33) and 8.11 (SD 17.19) (P < 0.001), respectively. A higher number of pack years contributed to a higher incidence of the respiratory tract symptoms (cough, wheeze, breathlessness) (P < 0.05). Compared to men, women were more often observed to suffer from grade 1 or 2 degree dyspnoea on the mMRC scale. Conclusions: Pulmonary function tests play an important role in the diagnosis of respiratory system diseases. Promotion of prophylactic measures in streets of cities helps to improve patients’ awareness of the condition of their health.

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First Argentine Study on Alpha-1 Antitrypsin Deficiency in Dried Blood Spot Samples From COPD Patients

Pérez¹,

Blanco

2015

Archivos de Bronconeumología (English Edition)

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Déficit de alfa 1 antitripsina en pacientes con EPOC: estudio de corte transversal

Cited by 17 publications

References 23 publications

Haplotype in SERPINA1 (AAT) Is Associated with Reduced Risk for COPD in a Mexican Mestizo Population

Haplotype in SERPINA1 (AAT) Is Associated with Reduced Risk for COPD in a Mexican Mestizo Population

Spirometry in the prophylaxis of respiratory system diseases – a retrospective study

First Argentine Study on Alpha-1 Antitrypsin Deficiency in Dried Blood Spot Samples From COPD Patients

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