Variants of alpha 1-antitrypsin in Puerto Rican children with asthma

Area of Science:

• Pulmonary Medicine
• Genetics
• Pediatrics

Background:

• Asthma prevalence varies significantly across ethnic groups.
• Previous studies indicated higher asthma rates in Puerto Rican adults.
• The role of genetic factors like alpha-1-antitrypsin (AAT) in pediatric asthma is under investigation.

Purpose of the Study:

• To investigate the prevalence of asthma in Puerto Rican pediatric patients compared to non-Hispanic children.
• To examine the association between alpha-1-antitrypsin (AAT) phenotypes and asthma in Puerto Rican children.
• To explore the relationship between family history of asthma and AAT variants.

Main Methods:

• Survey of pediatric patients (393 Puerto Rican, 354 non-Hispanic) at Beth Israel Hospital.
• Assays of alpha-1-antitrypsin (AAT) concentration and phenotypes in 61 Puerto Rican asthmatic children.
• Analysis of family history of asthma in asthmatic and control groups.

Main Results:

• Puerto Rican pediatric patients showed a significantly higher percentage of asthma.
• A significantly higher number of Puerto Rican asthmatic children possessed S or Z variants of AAT phenotype.
• AAT concentration was not a significant factor; intermediate AAT deficiency with PiM phenotype was found in non-asthmatic controls.
• Family history of asthma was more prevalent in asthmatic subjects and those with variant AAT phenotypes.

Conclusions:

• Puerto Rican children exhibit a higher prevalence of asthma.
• Specific alpha-1-antitrypsin (AAT) variants (S or Z) are associated with asthma in this pediatric population.
• These AAT variants may influence inflammatory responses, potentially predisposing individuals to asthma development.