Journal Article

Data mining and multiparameter analysis of lung surfactant protein genes in bronchopulmonary dysplasia

Meri Rova, Ritva Haataja, Riitta Marttila, Vesa Ollikainen, Outi Tammela and Mikko Hallman

in Human Molecular Genetics

Volume 13, issue 11, pages 1095-1104
Published in print June 2004 | ISSN: 0964-6906
Published online April 2004 | e-ISSN: 1460-2083 | DOI:
Data mining and multiparameter analysis of lung surfactant protein genes in bronchopulmonary dysplasia

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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. A total of 365 preterm Finnish infants in a high-risk population with gestational age ≤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 versus 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 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.

Journal Article.  6985 words.  Illustrated.

Subjects: Genetics and Genomics

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