Prevalence of Alpha-1 Antitrypsin High-risk Variants in Mexican Mestizo Population and Their Association With Lung Function Values

2015 ◽  
Vol 51 (2) ◽  
pp. 80-85 ◽  
Author(s):  
Gloria Pérez-Rubio ◽  
Luis Octavio Jiménez-Valverde ◽  
Alejandra Ramírez-Venegas ◽  
Ángel Camarena ◽  
Raúl H. Sansores ◽  
...  
Keyword(s):  
High Risk ◽  
Lung Function ◽  
Mexican Mestizo ◽  
Risk Variants ◽  
Alpha 1 Antitrypsin ◽  
Mexican Mestizo Population

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

2019 ◽  
Vol 21 (1) ◽  
pp. 195 ◽  
Author(s):  
Marco Antonio Ponce-Gallegos ◽  
Gloria Pérez-Rubio ◽  
Adriana García-Carmona ◽  
Jesús García-Gómez ◽  
Rafael Hernández-Zenteno ◽  
...  
Keyword(s):  
Lung Function ◽  
Protease Inhibitor ◽  
Biomass Burning ◽  
Tobacco Smoking ◽  
Lung Function Decline ◽  
Mexican Mestizo ◽  
Serpina1 Gene ◽  
Genotype Frequencies ◽  
Mexican Mestizo Population ◽  
Reduced Risk

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.

scholarly journals Air Trapping Is Associated with Heterozygosity for Alpha-1 Antitrypsin Mutations in Patients with Asthma

Respiration ◽  
2021 ◽  
pp. 1-10
Author(s):  
Marina Aiello ◽  
Marianna Ghirardini ◽  
Laura Marchi ◽  
Annalisa Frizzelli ◽  
Roberta Pisi ◽  
...  
Keyword(s):  
Lung Function ◽  
Serum Concentration ◽  
Forced Expiratory Volume ◽  
Small Airway ◽  
University Hospital ◽  
Air Trapping ◽  
Asthmatic Patients ◽  
Alpha 1 Antitrypsin Deficiency ◽  
Alpha 1 Antitrypsin ◽  
Few Data

<b><i>Background:</i></b> Alpha-1 antitrypsin deficiency (AATD) is a hereditary disorder involving lungs, characterized by low serum concentration of the protein alpha-1 antitrypsin (AAT) also called proteinase inhibitor (PI). Asthma is common in AATD patients, but there are only few data on respiratory function in asthmatic patients with AATD. <b><i>Objectives:</i></b> The aim of the study was to evaluate lung function in asthmatic outpatients with mutation in the <i>SERPINA1</i> gene coding for AAT versus asthmatic subjects without mutation. <b><i>Methods:</i></b> We performed the quantitative analysis of the serum concentration of AAT in 600 outpatients affected by mild to moderate asthma from the University Hospital of Parma, Italy. Fifty-seven of them underwent the genetic analysis subsequently; they were subdivided into mutated and non-mutated subjects. All the mutated patients had a heterozygous genotype, except 1 (PI*SS). We assessed the lung function through a flow-sensing spirometer and the small airway parameters through an impulse oscillometry system. <b><i>Results:</i></b> The values of forced vital capacity (% predicted) and those of the residual volume to total lung capacity ratio (%) were, respectively, lower and higher in patients mutated versus patients without mutation, showing a significantly greater air trapping (<i>p =</i> 0.014 and <i>p =</i> 0.017, respectively). Moreover, patients with mutation in comparison to patients without mutation showed lower forced expiratory volume in 3 s (% predicted) and forced expiratory volume in 6 s (L) spirometric values, reflecting a smaller airways contribution. <b><i>Conclusions:</i></b> In asthmatic patients, heterozygosity for AAT with PI*MZ and PI*MS genotypes was associated with small airway dysfunction and with lung air trapping.

scholarly journals SARS-CoV-2 testing and sequencing for international arrivals reveals significant cross border transmission of high risk variants into the United Kingdom

2021 ◽  
pp. 101021
Author(s):  
Gareth H Williams ◽  
Alexander Llewelyn ◽  
Ruben Brandao ◽  
Kaiya Chowdhary ◽  
Keeda-Marie Hardisty ◽  
...  
Keyword(s):  
United Kingdom ◽  
High Risk ◽  
Cross Border ◽  
The United Kingdom ◽  
Risk Variants

scholarly journals Lung function and CT lung densitometry in 37- to 39-year-old individuals with alpha-1-antitrypsin deficiency

2018 ◽  
Vol Volume 13 ◽  
pp. 3689-3698 ◽  
Author(s):  
Behrouz Mostafavi ◽  
Sandra Diaz ◽  
Eeva Piitulainen ◽  
Berend Stoel ◽  
Per Wollmer ◽  
...  
Keyword(s):  
Lung Function ◽  
Antitrypsin Deficiency ◽  
Alpha 1 Antitrypsin Deficiency ◽  
Alpha 1 Antitrypsin ◽  
Lung Densitometry

Role of high-risk variants in the development of impaired glucose metabolism was modified by birth weight in Han Chinese

2015 ◽  
Vol 31 (8) ◽  
pp. 790-795 ◽  
Author(s):  
Yun Zhang ◽  
Xinhua Xiao ◽  
Zhenxin Zhang ◽  
Xuejun Ma ◽  
Tao Xu ◽  
...  
Keyword(s):  
Birth Weight ◽  
High Risk ◽  
Glucose Metabolism ◽  
Han Chinese ◽  
Impaired Glucose Metabolism ◽  
Risk Variants

Osteogenic Sarcoma of the Maxillary Region in a Mexican Mestizo Population

2010 ◽  
Vol 21 (6) ◽  
pp. 1709-1714 ◽  
Author(s):  
Kuauhyama Luna-Ortiz ◽  
Veronica Villavicencio-Valencia ◽  
Tania Carmona-Luna ◽  
Philippe Pasche ◽  
Adalberto Mosqueda-Taylor
Keyword(s):  
Osteogenic Sarcoma ◽  
Mexican Mestizo ◽  
Mexican Mestizo Population ◽  
Maxillary Region

scholarly journals Impaired Lung Functions Using Tidal Breath Analysis in High-risk Infants with Recurrent Wheezing

2020 ◽  
Author(s):  
Ayşe Anık ◽  
Pınar Uysal
Keyword(s):  
High Risk ◽  
Lung Function ◽  
Breath Analysis ◽  
Roc Curve Analysis ◽  
Recurrent Wheezing ◽  
Mean Values ◽  
Significant Difference ◽  
Lung Functions ◽  
Lower Lung ◽  
High Risk Infants

INTRODUCTION: We aimed to investigate lung functions using tidal breath analysis (TBA) in high-risk infants with recurrent wheezing. METHODS: Lung functions measured using TBA in infants with physician-diagnosed recurrent wheezing (≥3 episodes) who applied our institution between 2018-2020, were retrospectively analyzed. Infants were assigned to two groups: high-risk infants with recurrent wheezing (n=30) and wheezy infants without high risk of atopy (n=33). RESULTS: High-risk infants with recurrent wheezing had lower mean values of tPTEF, tPTEF: tE, VPTEF, and VPTEF: VE than that of wheezy infants without high risk of atopy. There was no significant difference between two groups in terms of Vt/kg and respiratory rate. ROC curve analysis showed that tPTEF: tE ratio <26.5 demonstrated 63.3% sensitivity and 63.6% specificity for detection of high risk of atopy. DISCUSSION AND CONCLUSION: This study showed that high-risk infants with recurrent wheezing have lower lung function than those of wheezy infants without high risk of atopy. TBA might be useful method to evaluate lung function in wheezy infants.

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