Rusai Krisztina, Vannay Adám, Szebeni Beáta, Borgulya Gábor, Fekete Andrea, Vásárhelyi Barna, Tulassay Tivadar, Szabó Attila J
Research Laboratory of Pediatrics and Nephrology, Hungarian Academy of Sciences.
Mol Vis. 2008 Feb 5;14:286-90.
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.
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).
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.
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.
早产儿视网膜病变（ROP）与视网膜血管发育异常相关，是早产儿视力丧失的主要原因。内皮型一氧化氮合酶（eNOS）被认为在视网膜血管生成和血管发生中起核心作用。本研究旨在探讨eNOS功能基因多态性在ROP发病机制中的作用。
采用等位基因特异性聚合酶链反应，对105例接受ROP治疗的低出生体重（LBW）早产儿（治疗组）进行eNOS T（-786）C和27bp重复序列（eNOS，b：野生型，a：突变型）基因型检测。设立对照组，由127例1或2期ROP且无需治疗的LBW婴儿组成（未治疗组）。
发现两组间eNOS 27bp重复序列多态性的基因型分布存在显著差异（p=0.015），而eNOS T（-786）C的基因型分布在两组间无差异（p=0.984）。两组比较时，“a”等位基因（p=0.153）和C等位基因（p=0.867）的分布均无差异。多因素logistic回归分析显示，男性（p=0.046）和eNOS aa基因型（与ab基因型相比p=0.047，与bb基因型相比p=0.022）与需要治疗的重度ROP显著相关。基于检测到的基因型分布进行的单倍型估计显示，ROP治疗组中aT和bT单倍型的患病率显著增加。
功能性eNOS 27bp重复序列多态性可能与重度ROP的风险相关，但我们未发现eNOS T（-786）C与ROP发病机制之间存在关联。
