title: Surfactant protein-D-encoding gene variant polymorphisms are linked to respiratory outcome in premature infants.
abstract: 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.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Institute of Molecular Medicine, University of Southern Denmark, Odense, Denmark.
authors.forename: Grith Lykke
authors.initials: GL
authors.lastname: Sorensen
authors.affiliation: Hans Christian Andersen Children's Hospital, Odense University Hospital, Odense, Denmark.
authors.forename: Marianne
authors.initials: M
authors.lastname: Dahl
authors.affiliation: Department of Biochemistry, Odense University Hospital, Odense, Denmark; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
authors.forename: Qihua
authors.initials: Q
authors.lastname: Tan
authors.affiliation: Department of Genetics and Biotechnology, Research Center Foulum, Tjele, Denmark.
authors.forename: Christian
authors.initials: C
authors.lastname: Bendixen
authors.affiliation: Institute of Molecular Medicine, University of Southern Denmark, Odense, Denmark.
authors.forename: Uffe
authors.initials: U
authors.lastname: Holmskov
authors.affiliation: Hans Christian Andersen Children's Hospital, Odense University Hospital, Odense, Denmark.
authors.forename: Steffen
authors.initials: S
authors.lastname: Husby
mesh_terms: D000483:Alleles; D001724:Birth Weight; D001997:Bronchopulmonary Dysplasia / Q000235:genetics*; D015331:Cohort Studies; D004797:Enzyme-Linked Immunosorbent Assay; D005260:Female; D014644:Genetic Variation; D005838:Genotype; D005865:Gestational Age; D006239:Haplotypes; D006801:Humans; D007231:Infant, Newborn; D007234:Infant, Premature; D008297:Male; D010100:Oxygen / Q000627:therapeutic use; D011110:Polymorphism, Genetic; D037663:Pulmonary Surfactant-Associated Protein D / Q000235:genetics*; D012119:Respiration; D012127:Respiratory Distress Syndrome, Newborn / Q000235:genetics*; D016896:Treatment Outcome
chemical_list: D037663:Pulmonary Surfactant-Associated Protein D; D010100:Oxygen