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Published ahead of print on August 28, 2003, doi:10.1164/rccm.200304-524OC

Am. J. Respir. Crit. Care Med., Volume 168, Number 10, November 2003, 1216-1222

A more recent version of this article appeared on November 15, 2003
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Submitted on April 21, 2003
Accepted on August 25, 2003

Surfactant protein A and B genetic variants in respiratory distress syndrome in singletons and twins

Riitta Marttila1, Ritva Haataja2, Susan Guttentag3, and Mikko Hallman2*

1 Pediatrics, Seinajoki Central Hospital, Seinajoki, Finland, 2 Pediatrics and Biocenter Oulu, University of Oulu, Oulu, Finland, 3 Pediatrics, Division of Neonatoloy, University of Pennsylvania School of Medicine, Philadelphia, PA, USA

* To whom correspondence should be addressed. E-mail: mikko.hallman{at}oulu.fi.

Interactive genetic and environmental factors may influence the differentiation of the surfactant and the risk of respiratory distress syndrome (RDS). DNA from 441 premature singleton infants and 480 twin or multiple infants were genotyped for SP-A1, SP-A2 and SP-B exon 4 polymorphisms and intron 4 size variants in a homogenous Caucasian population. The distributions of the SP-A and SP-B gene variants between RDS and no-RDS infants were determined alone and in combination. The SP-A1 allele 6A2 (P=0.009) and the homozygous genotype 6A2/6A2 (P=0.003) were over-represented in RDS of singletons when the SP-B genotype was Thr/Thr and under-represented in RDS of multiples when the SP-B genotype was Ile/Thr (P=0.012 for 6A2 and P=0.03 for 6A2/6A2) or Thr/Thr (P=0.12 for 6A2 and P=0.018 for 6A2/6A2, respectively). The SP-A 6A2 allele in SP-B Thr131 background predisposed the smallest singleton infants to RDS, while near-term multiples were protected from RDS. There was a continuous association between the fetal mass and the risk of RDS, defined by the SP-A and SP-B variants. Labeled lung explants with Thr/Thr genotype showed proSP-B aminoterminal glycosylation, which was absent in Ile/Ile sample. Genetic and environmental variation may influence intracellular processing of surfactant complex and the susceptibility to RDS.
Key words: surfactant protein polymorphism, interaction of genes and environment, fetal mass




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