Genetic polymorphisms and retinopathy of prematurity
Genetic polymorphisms and retinopathy of prematurity
复制标题
DOI：
10.1167/iovs.03-1303
复制
发表时间：
2004-06-01
影响因子：
4.4
通讯作者：
Clark, D
中科院分区：
文献类型：
--
作者：
Cooke, RWI;Drury, JA;Clark, D
目的.早产儿视网膜病变（ROP）是新生儿重症监护的早产儿幸存者的主要问题。视网膜的新血管形成在ROP的增殖阶段是突出的，并且在几种因素如血管内皮生长因子（VEGF）的控制下。本研究假设VEGF、转化生长因子（TGF）-β 1和肿瘤坏死因子（TNF）-α的基因多态性在早产儿进行性ROP中的发生率高于轻度或无疾病的早产儿。在91名接受过治疗的婴儿和97名对照婴儿的DNA中测定了VEGF-634 G->C、VEGF *936 C->T、TNF-α-308 G->A和TGF-β-509 C->T的频率。两组中VEGF *936 C->T、TNF-α-308 G->A和TGF-β-509 C->T多态性的频率相似。VEGF-634等位基因在两组间的分布差异有统计学意义（P = 0.03）。G等位基因的纯合子，与较高的VEGF产生相关，是阈值ROP的两倍。极早产儿ROP进展至阈值ROP可能受到VEGF产生的遗传差异的影响。未来预防阈值ROP的努力可能会针对阻断VEGF的过度产生。
PURPOSE. Retinopathy of prematurity (ROP) is a major problem among very preterm survivors of neonatal intensive care. Neovascularization of the retina is prominent in the proliferative stages of ROP and is under the control of several factors such as vascular endothetial growth factor (VEGF). This study was undertaken on the hypothesis that genetic polymorphisms of VEGF, transforming growth factor (TGF)-beta1, and tumor necrosis factor (TNF)-alpha would occur more frequently in preterm infants with progressive ROP than in those with mild or no disease.METHODS. The frequencies of VEGF -634 G-->C, VEGF *936 C-->T, TNF-alpha -308 G-->A, and TGF-beta -509 C-->T were determined in DNA from 91 infants who had received treatment for threshold ROP and 97 comparison infants.RESULTS. The frequencies of the VEGF *936 C-->T, TNF-alpha -308 G-->A and TGF-beta -509 C-->T polymorphisms were similar in both groups. The distribution of alleles at VEGF -634 was significantly different between the two groups (P = 0.03). Homozygotes for the G allele, associated with higher VEGF production were twice as likely to have threshold ROP.CONCLUSIONS. The progression of ROP to threshold ROP in very preterm, infants may be influenced by genetic differences in VEGF production. Future efforts at prevention of threshold ROP may be directed toward blocking excess production of VEGF.