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Surfactant protein-D-encoding gene variant polymorphisms are linked to respiratory outcome in premature infants

Grith Lykke Sorensen1, Marianne Dahl2, Qihua Tan3

  • 1Institute of Molecular Medicine, University of Southern Denmark, Odense, Denmark.

The Journal of Pediatrics
|July 13, 2014
PubMed

Insights

Genetic variations in the surfactant protein-D-encoding gene (SFTPD) influence serum SP-D levels and respiratory outcomes in premature infants. These SFTPD variations are linked to reduced SP-D and lower risks of respiratory distress and support needs.

Area of Science:

  • Genetics
  • Neonatology
  • Pulmonology

Background:

  • Genetic variations in the surfactant protein-D-encoding gene (SFTPD) are implicated in respiratory conditions like respiratory distress syndrome.
  • Surfactant protein-D (SP-D) plays a crucial role in lung immunity and development.

Purpose of the Study:

  • To investigate the impact of SFTPD genetic variations on serum SP-D levels in infants.
  • To determine the association between SFTPD variations and pulmonary outcomes in premature infants.

Main Methods:

  • Serum SP-D levels were measured in 413 infants (211 mature, 202 premature).
  • Seven SFTPD single-nucleotide polymorphisms (SNPs) were genotyped.
  • SNP and haplotype analyses were performed to correlate genetic variation with SP-D levels, respiratory distress (RD), oxygen requirement, and respiratory support.

Main Results:

  • Specific SFTPD SNPs (rs1923534, rs721917, rs2243639, rs3088308) were significantly associated with serum SP-D levels.
  • These SNPs also correlated with RD, need for supplemental oxygen, and respiratory support.
  • Haplotype analysis revealed that specific haplotypes containing minor alleles were linked to decreased SP-D levels and reduced odds of respiratory complications.

Conclusions:

  • SFTPD genetic variations significantly affect SP-D levels and pulmonary outcomes in infants.
  • Findings validate and extend previous research on SFTPD's role in respiratory health.
  • SFTPD is identified as a key factor in the pulmonary adaptation of premature infants.
Abstract

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