Human Molecular Genetics Advance Access published online on April 21, 2004
Human Molecular Genetics, doi:10.1093/hmg/ddh132
© 2004 by Oxford University Press
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1 Department of Paediatrics and Biocenter Oulu, University of Oulu, PO Box 5000, FIN-90014 Oulu, Finland
* To whom correspondence should be addressed. E-mail: rhh{at}cc.oulu.fi.
Bronchopulmonary dysplasia (BPD), the most common chronic lung disease in infancy, is influenced by a number of antenatal and postnatal risk factors and is mostly preceded by respiratory distress syndrome (RDS) in the newborn. Surfactant protein (SP-A, -B, -C, and -D) gene variations may play a role in both BPD and RDS. An association study between these candidate genes and BPD was performed. 365 preterm Finnish infants in a high-risk population with gestational age
Article
Data mining and multiparameter analysis of lung surfactant protein genes in bronchopulmonary dysplasia
2 Seinäjoki Central Hospital, FIN-60220 Seinäjoki, Finland
3 CSC - The Finnish IT Centre for Science, PO Box 405, FIN-02101 Espoo, Finland
4 Tampere University Hospital, PO Box 2000, FIN-33521 Tampere, Finland
Abstract 
32 weeks were genotyped for all SP genes. A multiparameter analysis was performed using Agrawal's algorithm based data mining and conventional methods of statistical allelic association. In singletons and presenting multiples, the frequency of SP-B intron 4 deletion variant allele was increased in BPD vs. controls (P = 0.008, OR = 2.0, 95%CI 1.2-3.4). The presence of the SP-B intron 4 deletion variant was a risk factor for BPD even when essential external confounding factors were included in the analyses. No other SP polymorphisms associated with BPD, and the SP-B intron 4 variation did not associate with RDS. Transcription Element Search Software TESS predicted allele-specific differences at several putative transcription factor binding sites that may be important in SP-B regulation. The present multiparameter analysis demonstrates the presumable direct involvement of the SP-B intron 4 deletion variant allele as a genetic risk factor to BPD. We propose that two separate SP-B gene polymorphisms have a phenotypic significance via separate molecular mechanisms: the intron 4 length variation affecting transcriptional regulation, and the exonic Ile131Thr variation affecting post-translationally.
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