Endothelial nitric oxide synthase gene T-786C and 27-bp repeat gene polymorphisms in retinopathy of prematurity.
OBJECTIVE
Retinopathy of prematurity (ROP), which is associated with abnormal retinal vessel development, is the leading cause of visual loss in preterm infants. Endothelial nitric oxide synthase (eNOS) is believed to play a central role in both retinal angiogenesis and vasculogenesis. The aim of this study was to investigate functional genetic polymorphisms of eNOS in the pathogenesis of ROP.


METHODS
eNOS T(-786)C and 27-bp repeat (eNOS, b: wild-type, a: mutant) genotypes were determined using allele-specific polymerase chain reaction in 105 low birth weight (LBW) preterm infants treated for ROP (treated group). A control group was set up and composed of 127 LBW infants with stage 1 or 2 ROP that did not not require treatment (untreated group).


RESULTS
The genotype distribution of eNOS 27-bp repeat polymorphism was found to significantly differ (p=0.015) between the two groups, whereas the genotype distribution of eNOS T(-786)C did not differ (p=0.984) between the groups. There was no difference in the distribution of either the "a" allele (p=0.153) nor of the C allele (p=0.867) in a groups comparison. Multiple logistic regression analysis revealed that male gender (p=0.046) and eNOS aa genotype (p=0.047 versus ab genotype and p=0.022 versus bb genotype) were significantly associated severe ROP that required treatment. The haplotype estimations based on the detected genotype distributions showed that the prevalence of aT and bT haplotypes was significantly increased in the group treated for ROP.


CONCLUSIONS
Functional eNOS 27-bp repeat polymorphism might be associated with the risk of severe ROP, however we found no association between the eNOS T(-786)C and the pathogenesis of ROP.
Rusai
Krisztina
K
Research Laboratory of Pediatrics and Nephrology, Hungarian Academy of Sciences. rusai@gyer1.sote.hu
Vannay
Adám
A
Szebeni
Beáta
B
Borgulya
Gábor
G
Fekete
Andrea
A
Vásárhelyi
Barna
B
Tulassay
Tivadar
T
Szabó
Attila J
AJ
D000483:Alleles; D020029:Base Pairing; D001724:Birth Weight; D003596:Cytosine; D005260:Female; D005865:Gestational Age; D006239:Haplotypes; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D052250:Nitric Oxide Synthase Type III / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012044:Regression Analysis; D012091:Repetitive Sequences, Nucleic Acid / Q000235:genetics*; D012178:Retinopathy of Prematurity / Q000201:enzymology* / Q000235:genetics*; D013941:Thymine
D003596:Cytosine; C496314:NOS3 protein, human; D052250:Nitric Oxide Synthase Type III; D013941:Thymine