Ispitivanje polimorfizama eNOS gena kao faktora rizika za razvoj retinopatije prevremeno rođene dece

Abstract

Uvod: Retinopatija prematuriteta (ROP) je oboljenje mrežnjače oka prevremeno roñene dece i osnovni je uzrok teškog oštenja vida u detinjstvu. Genetička istraživanja ROP usmerena su ka otkrivanju varijanti gena odgovornih za razvoj teških formi ROP-a. Cilj ove studije bio je da ispita učestalost genotipova i alela polimorfizama T-786C i 4a/4b gena za endotelnu azot oksid sintetazu (eNOS) u populaciji prevremeno roñene dece kao i povezanost ispitivanih polimorfnih varijanti sa nastankom teškog stepena retinopatije. Takoñe, cilj ove studije je ispitivanje kliničkih faktora rizika udruženih sa nastankom teškog stepena ROP-a. Metodologija: Istraživanje je uključilo 239 prevremeno roñene dece. Na osnovu sprovedenog oftalmološkog skrininga prevremeno roñena deca su podeljena u dve grupe. ROP grupa je obuhvatila 113 dece kod kojih je stepen ROP-a zahtevao oftalmološku terapiju, a kontrolnu grupu činilo je 126 dece bez terapije. DNK je izolovana iz brisa bukalne sluznice prevremeno roñene dece a ispitivanje polimorfizama vršeno je PCR metodom. Rezultati: Ispitivanje polimorfizma T-786C pokazalo je da je 39,1% dece homozigotno za češći alel T (genotip TT), 52,3% su heterozigoti (genotip CT) i 8,6% homozigoti za reñi alel C (genotip CC). Učestalost C alela je 34,8%. Učestalost genotipova T-786C polimorfizma u grupi sa ROP-om je: 40,0% TT genotipa, 51,7% CT genotipa i CC genotipa 8,3%. U kontrolnoj grupi učestalost TT genotipa je 38,2%, CT genotipa 52,9% i CC genotipa 8,8%. Učestalost C alela u ROP grupi je 34,2%, a 35,3% u kontrolnoj grupi. Ispitivanjem polimorfizma 4a/4b utvrñeno je da je 65,3% dece homozigotno za češći alel 4b (genotip bb), 31,2% su heterozigoti (genotip ab) i 3,5% homozigoti za reñi alel 4a (genotip aa). Učestalost 4a alela je 19,1%. Učestalost 4a/4b polimorfizma u grupi sa ROP-om je: genotipa 4bb 60,2%, genotipa 4ba 34,9% i 4aa genotipa 4,9%. U kontrolnoj grupi učestalost genotipa 4bb je 70,1%, genotipa 4ba 27,6% i 4aa genotipa 2,3%. Učestalost 4a alela u ROP grupi je 22,3%, a 16,1% u kontrolnoj grupi...

Introduction: Retinopathy of prematurity (ROP) is a disease of the retina of premature infants and is the main cause of severe visual impairment in childhood. Genetic studies of ROP are directed towards to discovering variants of genes responsible for the development of severe forms of ROP. The aim of this study was to determine the frequency of genotypes and allele of polymorphisms T-786C and 4a/4b genes for endothelial nitric oxide synthase (eNOS) in the population of premature infants as well as the correlation between the polymorphic variants and the development of severe degree of retinopathy. The goal of this study was to evaluate clinical risk factors associated with the occurrence of severe degree of ROP. Methodology: The study included 239 premature infants. On the basis of conducted ophthalmological screening premature infants were divided into two groups. ROP group consisted of 113 children in whom the degree of ROP demanded ophthalmological therapy, and the control group consisted of 126 children without therapy. DNA was isolated from the buccal mucosa swabs of premature infants and the examination of polymorphisms was performed by PCR method. Results: Examination of T-786C polymorphism has shown that 39.1% of children are homozygous for common allele T (TT genotype), 52.3% are heterozygous (genotype CT) and 8.6% are homozygous for rare allele C (genotype CC) . The frequency of C allele is 34.8%. The frequency of genotypes T-786C polymorphism in the group with ROP is 40.0% TT genotype, 51.7% CT genotype and CC genotype 8.3%. In the control group the frequency of TT genotype is 38.2%, 52.9% CT genotype and CC genotype is 8.8%. The frequency of C allele in the ROP group is 34.2% and 35.3% in the control group. By examination of polymorphism 4a/4b we found that 65.3% of children are homozygous for common allele 4b (genotype bb), 31.2% are heterozygous (genotype ab) and 3.5% are homozygous for rare allele 4a (genotype aa). The frequency of 4a allele is 19.1%...