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Variants of alpha 1-antitrypsin in Puerto Rican children with asthma
Insights
Puerto Rican children have higher asthma rates. Genetic variants in alpha-1-antitrypsin (AAT) may predispose them to asthma, independent of AAT levels.
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.
Abstract:
A survey of 393 Puerto Rican and 354 non-Hispanic pediatric patients at Beth Israel Hospital, New York, revealed a significantly larger percentage of asthmatic subjects among Puerto Ricans, confirming findings of a study of Puerto Rican adults in New York. Assays of alpha 1-antitrypsin (AAT) concentration and phenotypes in 61 Puerto Rican asthmatic children revealed a significantly larger number with an S or Z variant in AAT phenotype. The AAT concentration was not a significant variable in this relationship, since four of five subjects with intermediate deficient AAT concentrations and a PiM phenotype were among control nonasthmatic Puerto Rican subjects. A family history of asthma was more common among asthmatic than control subjects and was most common for variant AAT phenotypes in either asthmatic or control subjects. We speculate that the S or Z variant of AAT affects the inflammatory response in such a way as to predispose to asthma.