Journal
PEDIATRIC RESEARCH
Volume 66, Issue 1, Pages 70-73Publisher
NATURE PUBLISHING GROUP
DOI: 10.1203/PDR.0b013e3181a1d768
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Funding
- American Lung Association [CG-971-N]
- National Institutes of Health [HL34788, R01CA133996]
- Children's Miracle Network of Penn State Children's Hospital
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Severity of lung injury with respiratory syncytial virus (RSV) infection is variable and may be related to genetic variations. This preliminary report describes a prospective, family-based association study of children hospitalized secondary to RSV, aimed to determine whether intragenic and other haplotypes of surfactant proteins (SP)-A and SP-D are transmitted disproportionately from parents to offspring with RSV disease. Genomic DNA was genotyped for several SP-A and SP-D single nucleotide polymorphisms (SNPs). Transmission disequilibrium test analysis was used to determine transmission of variants and haplotypes from parents to affected offspring. Three hundred seventy-five individuals were studied, including 148 children with active RSV disease and one or both parents. The SP-A2 intragenic haplotype 1A(2) was found to be protective (p = 0.013). The SP-D SNP DA160_A may possibly be an at-risk marker (p = 0.0058). Additional two- and three-marker haplotypes were associated with severe RSV disease with two being protective (DA11+T/DA160_G and DA160_G/SP-A2 1A(0)/SP-A1 6A(2)). We conclude that there may be associations between SP-A and SP-D and RSV disease. Further study is required to determine whether these variants can be used to target a high-risk patient population in clinical trials aimed at reducing either the symptoms of acute infection or long-term pulmonary sequelae. (Pediatr Res 66: 70-73, 2009)
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