Associations of ADAM 33 and eNOS gene polymorphisims in bronchopulmonary dysplasia

Bronchopulmonary dysplasia (BPD) is a chronic respiratory disease which can cause perinatal/neonatal lung injury and serious morbidity in premature infants that are born before 37 weeks of gestational age (GA). Small genetic changes of DNA that vary in only one base are known as Single Nucleotide Polymorphisms (SNPs). This type of polymorphism occurs when a single nucleotide (A, T, C, or G) in a specific position in the genome sequence is altered. eNOS (rs179983) is an important mediator of physiologic processes in the airways and ADAM33 (chromosome 20, a disintegrin and metalloproteinase domain 33) (rs 2280090) is the first gene identified in asthma by positional cloning. The aim of this study was to investigate possible associations between ADAM 33 and eNOS gene polymorphisms in premature infants, as a risk factors for development of BPD. One hundred and twenty two blood samples DNA isolation was carried out using the PureLinkTM Genomic DNA Mini Kit and the concentration of the DNA samples was measured by nanophotometer Implen P 300. For the SNP analysis of ADAM33 (rs 2280090) and eNOS (rs1799983) optimized primers (TaqMan SNP Assays) were used. Real Time Polymerase Chain Reaction (QRT-PCR) was carried out in a CFX96 thermocycler. Chi-square χ2 test, Fisher's exact test, the odds ratio and confidence intervals were calculated for the comparisons of allelic and genotype frequencies. The results indicated that the AA genotype (p=0,006*; OR 2.54 95% CI 1.179-5.494) of ADAM 33 gene and GG genotype (p=0.000*; OR 1.89, 95% CI 1.514-2.148) of the eNOS gene were risk factors for developing BPD.