Endothelial nitric oxide synthase gene T-786C and 27-bp repeat gene polymorphisms in retinopathy of prematurity

K. Rusai, A. Vannay, B. Szebeni, Gábor Borgulya, Andrea Fekete, B. Vásárhelyi, T. Tulassay, Attila J. Szabó

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22 Citations (Scopus)

Abstract

Purpose: 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 T786C 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 T786C 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 A 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 T786C and the pathogenesis of ROP.

Original languageEnglish
Pages (from-to)286-290
Number of pages5
JournalMolecular Vision
Volume14
Publication statusPublished - Feb 5 2008

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Retinopathy of Prematurity
Nitric Oxide Synthase Type III
Genotype
Genes
Alleles
Low Birth Weight Infant
Premature Infants
Haplotypes
Retinal Vessels
Genetic Polymorphisms
Logistic Models
Regression Analysis
Polymerase Chain Reaction
Control Groups

ASJC Scopus subject areas

  • Ophthalmology

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Endothelial nitric oxide synthase gene T-786C and 27-bp repeat gene polymorphisms in retinopathy of prematurity. / Rusai, K.; Vannay, A.; Szebeni, B.; Borgulya, Gábor; Fekete, Andrea; Vásárhelyi, B.; Tulassay, T.; Szabó, Attila J.

In: Molecular Vision, Vol. 14, 05.02.2008, p. 286-290.

Research output: Contribution to journalArticle

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abstract = "Purpose: 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 T786C 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 T786C 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 A 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 T786C and the pathogenesis of ROP.",
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T1 - Endothelial nitric oxide synthase gene T-786C and 27-bp repeat gene polymorphisms in retinopathy of prematurity

AU - Rusai, K.

AU - Vannay, A.

AU - Szebeni, B.

AU - Borgulya, Gábor

AU - Fekete, Andrea

AU - Vásárhelyi, B.

AU - Tulassay, T.

AU - Szabó, Attila J.

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N2 - Purpose: 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 T786C 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 T786C 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 A 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 T786C and the pathogenesis of ROP.

AB - Purpose: 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 T786C 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 T786C 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 A 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 T786C and the pathogenesis of ROP.

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