Investigation of polymorphisms on certain genes which are associated with bronchopulmonary dysplasia among Turkish population

Bronchopulmonary dysplasia (BPD) is one of the most common chronic lung diseases seen in preterm infants. Although BPD incidence varies among different facilities due to differences between facilities for defining chronic lung diseases and BPD, according to most of the European countries more than 30% of preterm infants born before 30th week of pregnancy are diagnosed with BPD. Preterm infants who are predisposed to develop BPD are born in the late canalicular or early saccular stage of lung development, thus the number of alveoli they have stay lower than mature babies. Today, most important etiological factors of BPD are considered as inflammation, discontinuance of alveoli development due to prematurity, lack of surfactant and immaturity of chest wall. BPD occurs by the interaction of genetic and environmental factors (hyperoxia, invasive mechanic ventilation and sepsis) together. Genetic factors causing predisposition to develop BPD are being investigated with different approaches in the literature like twin studies, GWA studies and single nucleotide polymorphism (SNP) studies on target genes. Certain SNP's which are reported in the literature to be associated with BPD incidence in different populations have been designated to be investigated in Turkish population by determining allelic and genotypic frequencies of these SNP's using multiplex reactions and MALDI-TOF mass spectrometry methods and the information obtained has also been compared with clinical and demographical data acquired from patients with the aim of contributing to understand the genetic basis of BPD incidence specifically in Turkish population. Among 45 SNP sites genotyped from blood samples obtained from 192 premature infants, including 96 BPD diagnosed infants, rs11003125, rs2233406, rs3138053, rs55716084 and rs62468577 polymorphisms showed significant relationship at allelic level and rs4883955, rs833061 and rs9953270 polymorphisms showed statistically significant relationship both at allelic and genotypic level with BPD incidence in Turkish population. Furthermore, when clinical and demographical data obtained from patients were investigated for any relationship with SNP's in prospect, chronic lung disease, pneumonia, BPD, RDS and cigarette consumption stories seen in the patient's family seemed to be in a significant relationship with these SNP's. In conclusion, with the aim of investigating the genetic basis of BPD incidence in Turkish population for the first time in the literature, this study has revealed the relationship between multiple polymorphisms and BPD incidences by using high fidelity genotyping methods.