Surfactant Protein-D-Encoding Gene Variant Polymorphisms Are Linked to Respiratory Outcome in Premature Infants

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  • Grith Lykke Sorensen, Univ Southern Denmark, University of Southern Denmark, Inst Mol Med, Danmark
  • Marianne Dahl, Odense Univ Hosp, Hans Christian Andersen Childrens Hosp, Danmark
  • Qihua Tan, Odense Univ Hosp, Dept Biochem, Danmark
  • Christian Bendixen
  • Uffe Holmskov, Univ Southern Denmark, University of Southern Denmark, Inst Mol Med, Danmark
  • Steffen Husby, Odense Univ Hosp, Hans Christian Andersen Childrens Hosp, Danmark

Objective Associations between the genetic variation within or downstream of the surfactant protein-D-encoding gene (SFTPD), which encodes the collectin surfactant protein-D (SP-D) and may lead to respiratory distress syndrome or bronchopulmonary dysplasia, recently were reported. Our aim was to investigate whether SFTPD variations affect serum SP-D levels in infants and pulmonary outcome in premature infants.

Study design Serum SP-D levels were measured in 211 mature and 202 premature infants, and 7 SFTPD single-nucleotide polymorphisms (SNPs) were genotyped. SNP analysis and haplotype analysis were used to associate genetic variation to SP-D, respiratory distress (RD), oxygen requirement, and respiratory support.

Results The 5'-upstream SFTPD SNP rs1923534 and the 3 structural SNPs rs721917, rs2243639, and rs3088308 were associated with the SP-D level. The same SNPs were associated with RD, a requirement for supplemental oxygen, and a requirement for respiratory support. Haplotype analyses identified 3 haplotypes that included the minor alleles of rs1923534, rs721917, and rs3088308 that exhibited highly significant associations with decreased SP-D levels and decreased ORs for RD, oxygen supplementation, and respiratory support.

Conclusion These findings extend and validate previous observations of SFTPD association with the risk of respiratory outcomes and suggest SFTPD as an essential factor affecting pulmonary adaptation in premature infants.

OriginalsprogEngelsk
TidsskriftJournal of Pediatrics
Vol/bind165
Nummer4
Sider (fra-til)683-689
Antal sider7
ISSN0022-3476
DOI
StatusUdgivet - okt. 2014

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