Genetic risk factors for respiratory diseases of preterm infants

Preterm infants with a birth weight below 1500 grams born in the GNN were genotyped for rs35705950 (n=8029). Furthermore, 1272 infants were chip-genotyped (AXIOM genome wide array, GWA), and candidate polymorphisms were replicated in two additional groups of preterm infants (n=3839 and n=2830). Frequencies for rs35705950 were in the expected range (GG 82%, GT 17%, TT 1%). The GT/TT-genotype was a strong genetic risk factor for the development of BPD in ventilated infants with sepsis (OR 5.7 95%CI 2-15; p=4.2 x 10). In GWA, we identified 10 candidate polymorphisms however, only one minor allele proved to be associated with a reduced need for surfactant treatment in preterm infants (OR 0.7, 95%CI 0.6-0.8, p=3.8 x 10 corrected for gestational age). Common polymorphisms are associated with respiratory disease in preterm infants. Our data indicate that personalized treatment stratified for genetic factors might be a useful approach for future therapy in neonates.