title: Surfactant protein B polymorphisms are associated with severe respiratory syncytial virus infection, but not with asthma.
abstract: BACKGROUND
  Surfactant proteins (SP) are important for the innate host defence and essential for a physiological lung function. Several linkage and association studies have investigated the genes coding for different surfactant proteins in the context of pulmonary diseases such as chronic obstructive pulmonary disease or respiratory distress syndrome of preterm infants. In this study we tested whether SP-B was in association with two further pulmonary diseases in children, i. e. severe infections caused by respiratory syncytial virus and bronchial asthma.
  
  
  METHODS
  We chose to study five polymorphisms in SP-B: rs2077079 in the promoter region; rs1130866 leading to the amino acid exchange T131I; rs2040349 in intron 8; rs3024801 leading to L176F and rs3024809 resulting in R272H. Statistical analyses made use of the Armitage's trend test for single polymorphisms and FAMHAP and FASTEHPLUS for haplotype analyses.
  
  
  RESULTS
  The polymorphisms rs3024801 and rs3024809 were not present in our study populations. The three other polymorphisms were common and in tight linkage disequilibrium with each other. They did not show association with bronchial asthma or severe RSV infection in the analyses of single polymorphisms. However, haplotypes analyses revealed association of SP-B with severe RSV infection (p = 0.034).
  
  
  CONCLUSIONS
  Thus our results indicate a possible involvement of SP-B in the genetic predisposition to severe RSV infections in the German population. In order to determine which of the three polymorphisms constituting the haplotypes is responsible for the association, further case control studies on large populations are necessary. Furthermore, functional analysis need to be conducted.
authors.affiliation: University Children's Hospital, University of Freiburg, Freiburg, Germany. beenamary@hotmail.com
authors.forename: Beena
authors.initials: B
authors.lastname: Puthothu
authors.forename: Johannes
authors.initials: J
authors.lastname: Forster
authors.forename: Jessica
authors.initials: J
authors.lastname: Heinze
authors.forename: Andrea
authors.initials: A
authors.lastname: Heinzmann
authors.forename: Marcus
authors.initials: M
authors.lastname: Krueger
mesh_terms: D000293:Adolescent; D001249:Asthma / Q000235:genetics*; D002648:Child; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D011110:Polymorphism, Genetic; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic; D037701:Pulmonary Surfactant-Associated Protein B / Q000235:genetics*; D018357:Respiratory Syncytial Virus Infections / Q000235:genetics / Q000503:physiopathology*; D012720:Severity of Illness Index
chemical_list: D037701:Pulmonary Surfactant-Associated Protein B