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Genetic variants of surfactant proteins A, B, C, and D in bronchopulmonary dysplasia

J Pavlovic1, C Papagaroufalis, M Xanthou

  • 1Department of Cellular and Molecular Physiology, PSU, Hershey, PA 17033, USA.

Disease Markers
|February 1, 2007
PubMed

Insights

Genetic variants in surfactant proteins (SPs) are linked to Bronchopulmonary Dysplasia (BPD), a respiratory disease in premature infants. Specific SP-B alleles and SP-A/SP-D haplotypes show significant associations with BPD susceptibility and protection.

Area of Science:

  • Genetics
  • Neonatology
  • Respiratory Medicine

Background:

  • Bronchopulmonary Dysplasia (BPD) affects prematurely born infants requiring respiratory support.
  • Genetic factors may influence BPD development, particularly in relation to lung development and repair.

Purpose of the Study:

  • To investigate if genetic variants of surfactant proteins (SPs) and SP-B-linked microsatellites are risk factors for BPD.
  • To analyze associations between SP genetic loci and BPD subtypes (BPD_28D and BPD_36W).

Main Methods:

  • Family-based association study in a Greek cohort of 71 neonates (<30 weeks gestational age).
  • Genotyping using pyrosequencing and established methods.
  • Statistical analysis using Transmission Disequilibrium Test (TDT) and Family Based Association Test (FBAT).

Main Results:

  • Significant associations (p<=0.01) found for SP-B alleles and SP-B-linked microsatellite markers.
  • Allele B-18_C linked to BPD_36W susceptibility; AAGG_6 linked to BPD_28D/36W susceptibility.
  • Ten susceptibility and one protective haplotype for SP-B/microsatellites; two protective haplotypes for SP-A-SP-D identified.

Conclusions:

  • Surfactant protein loci are associated with Bronchopulmonary Dysplasia.
  • Further studies with larger cohorts are needed to confirm these genetic links and understand BPD subgroups.

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