GENETIC BACKGROUND AND ANTENATAL RISK FACTORS OF BRONCHOPULMONARY DYSPLASIA, ACTA UNIVERSITATIS OULUENSIS D Medica 1472
|Kustantaja:||Oulun yliopisto|| |
|Sijainti:||Print Tietotalo|| |
|Tekijät:||MAHLMAN MARI|| |
Advances over the past few decades in ante- and neonatal care have led to the survival of a
growing number of premature infants of extremely low gestational age. However, the occurrence
of serious diseases, particularly those affecting the most immature infants, remains high.
Bronchopulmonary dysplasia (BPD), a chronic lung disease of premature infants, is one such
disease. Our current understanding of the molecular pathogenesis of BPD is incomplete;
consequently, there are few preventive and therapeutic options for BPD. Moreover, it is
challenging to predict the risk of BPD. Previous studies of BPD in twins revealed that the
heritability of BPD is quite high. However, the individual genes that predispose premature infants
to BPD are largely unknown.
The aim of this study was to identify and study genes associated with BPD in order to
investigate its pathogenesis. An additional aim was to add to knowledge of the risk of BPD in
newborn premature infants, with an emphasis on twins.
A candidate gene study found no consistent association between common polymorphisms of
vascular endothelial growth factor receptor 2 and BPD. A second candidate gene study noted an
association between the gene encoding Kit ligand and BPD. A genome-wide association study
found a suggestive association between a locus close to the gene encoding C-reactive protein
(CRP) and BPD, and in subsequent analyses, plasma levels of CRP during the first week of life
predicted BPD. Finally, a nationwide register study found that the risk of BPD was lower in twins
than in singletons.
The results of this study add to what is known of the genetics and pathogenesis of BPD. They
also provide new data on the risk of BPD, which may be used to improve early identification of
infants for whom the risk of developing BPD is high.