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Surfactant protein A and D gene polymorphisms and protein expression in victims of sudden infant death
Author(s) -
StrayPedersen Arne,
Vege Åshild,
Opdal Siri Hauge,
Moberg Sara,
Rognum Torleiv Ole
Publication year - 2009
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.2008.01090.x
Subject(s) - haplotype , sudden infant death syndrome , immunohistochemistry , single nucleotide polymorphism , sudden death , medicine , gene , allele , surfactant protein d , microbiology and biotechnology , exon , immune system , pathology , biology , genotype , genetics , immunology , innate immune system , pediatrics
Aim: To investigate the innate immune components surfactant protein A (SP‐A) and D (SP‐D) in victims of sudden infant death syndrome (SIDS). Methods: Ten common single nucleotide polymorphisms (SNPs) in the exons of SP‐A1, SP‐A2 and SP‐D genes were analysed in 42 cases of SIDS and 46 explained sudden infant deaths. SP‐A and SP‐D protein expression in tissue from the aerodigestive tract was semi‐quantitatively evaluated by immunohistochemistry. Results: SP‐D immunoreactivity was found in lungs and tissue from submandibular gland, palatine tonsils and duodenum. Positive SP‐A immune staining was found exclusively in lung tissue. Neither the allele nor the haplotype distribution of the SP‐A and SP‐D genes was significantly different in SIDS compared to explained deaths. The most common SP‐A haplotype, 6A2/1A0, tended to be overrepresented in the cases with low immunohistochemical SP‐A expression (61%) compared to cases with high expression (49%), p = 0.08. The SP‐D expression was not influenced by the 11 C/T or 160 A/G polymorphisms. Conclusion: No significant association between the common genetic variants of SP‐A and SP‐D and SIDS is disclosed by the present study. However, low SP‐A protein expression may possibly be determined by the 6A2/1A0 SP‐A haplotype, this should be subject for further investigation.