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DOI: 10.1055/s-2006-946210
Association of polymorphisms in the human surfactant protein-D (SFTPD) gene and pulmonary morbidity in the preterm infant
Surfactant protein-D (SP-D) is a member of the collagenous subfamily of calcium-dependent lectins (collectins). Associations between single nucleotide polymorphisms (SNPs) of the human gene coding surfactant protein-D (SFTPD) and infectious pulmonary diseases have previously been described. Outcome for the immature preterm infant is mainly determined by pulmonary morbidity.
The aim of the present study was to explore the association of sequence variations within the SFTPD gene with acute and chronic pulmonary morbidity. Four validated SNPs were genotyped with sequence-specific probes in 284 newborn infants of ≤32 weeks gestational age. An association between one SFTPD gene variant and the development of respiratory distress syndrome (RDS) in the study population was found (P=0.005). This finding is strongly supported by functional data, i.e. low S-PD serum levels in carriers of the same variant. The discovery of an association of a common hypomorphic variant of the SFTPD gene with acute respiratory failure in preterm infants provides a basis for further investigation of the function of SP-D in the resistance against development of pulmonary morbidity and outcome in preterm infants.