Association of polymorphisms in the human surfactant protein-D (SFTPD) gene and postnatal pulmonary adaptation in the preterm infant

• Published in: Acta Paediatrica 2009-01, Vol.98 (1), p.112-117
• Main Authors: Hilgendorff, Anne, Heidinger, Kathrin, Bohnert, Anette, Kleinsteiber, Anja, König, Inke R., Ziegler, Andreas, Lindner, Ulrike, Frey, Georg, Merz, Catherine, Lettgen, Bernhard, Chakraborty, Trinad, Gortner, Ludwig, Bein, Gregor
• Format: Article
• Language: English
• Subjects: Adaptation, Physiological; Biological and medical sciences; Bronchopulmonary dysplasia; Bronchopulmonary Dysplasia - genetics; Confidence Intervals; Female; General aspects; Genetic Variation; Genotype; Humans; Immunity, Innate; Infant, Newborn; Infant, Premature; Innate immunity; Logistic Models; Male; Medical sciences; Odds Ratio; Pneumology; Polymorphism, Single Nucleotide; Preterm neonates; Pulmonary Surfactant-Associated Protein D - genetics; Respiratory distress syndrome; Respiratory Distress Syndrome, Newborn - genetics; Respiratory system : syndromes and miscellaneous diseases; Risk Assessment; Surfactant protein D
• ISSN: 0803-5253; 1651-2227
• DOI: 10.1111/j.1651-2227.2008.01014.x

Background. 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 been established by several groups. As the outcome of very preterm infants is mainly determined by pulmonary morbidity, the aim of the present study was to investigate the potential association between sequence variations within the SFTPD gene and pulmonary morbidity in preterm infants below 32 weeks of gestational age (GA). Materials and Results. Four validated SNPs were genotyped with sequence‐specific probes (TaqMan 7000) in 284 newborn infants below 32 weeks of GA. An association between the SNP rs1923537 and the development of respiratory distress syndrome (RDS) in the study population was found with a lower prevalence of RDS in infants having homozygous a minor allele genotype (odds ratio = 1.733, 95% confidence interval 1.139–2.636, adjusted p = 0.0408). Consecutively, the indicated polymorphism was found to be associated with a lower number of repetitive surfactant doses, and with a lower prevalence for the requirement of oxygen supplementation on day 28, as well as the use of diuretics. Conclusion. The finding of an association of a variant of the SFTPD gene, that has previously been shown to be associated with increased SP‐D serum levels in adult patients with acute respiratory failure, i.e. RDS in preterm infants, may provide a basis for the initial risk assessment of RDS and modification of surfactant treatment strategies. A role for SP‐D in neonatal pulmonary adaptation has to be postulated.