Aims: Polymorphisms of genes are transmitted together in haplotypes, which can be used in the study of the development of complex diseases such as respiratory distress syndrome (RDS). The surfactant proteins (SPs) play important roles in lung function, and genetic variants of these proteins have been linked with lung diseases, including RDS. To determine whether haplotypes of SP-A and SP-D are transmitted disproportionately from parents to offspring with RDS, we hypothesized that previously unstudied genetic haplotypes of these SP genes are associated with the development of RDS.
Methods: DNA was collected from 132 families of neonates with RDS. Genotyping was performed, and haplotype transmission from parent to offspring was determined by transmission disequilibrium test.
Results: The two-marker SP-D/SP-A haplotype DA160_A/SP-A2 1A(1) is protective against the development of RDS (p = 0.035). Four three- and four-marker haplotypes containing one or both loci from the significant two-marker haplotype are also protective against the development of RDS.
Conclusions: These data identify protective haplotypes against RDS and support findings related to SP genetic differences in children who develop RDS. Study of haplotypes in complex diseases with both genetic and environmental risk factors may lead to better understanding of these types of diseases.