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82


Trisomy 2 mosaicism [Meeting Abstract]

Pappas JG; Havens G; Bogosian V; Batt J; Paka K; Babu A; Penchaszadeh VB
ORIGINAL:0005143
ISSN: 0002-9297
CID: 48986

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

Colp C; Pappas J; Moran D; Lieberman J
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
PMID: 8449073
ISSN: 0012-3692
CID: 48979