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Genetic polymorphisms and retinopathy of prematurity

Richard W I Cooke1, Jo A Drury, Roger Mountford

  • 1Department of Child Health, University of Liverpool, Neonatal Unit, Liverpool Women's Hospital, United Kingdom.

Investigative Ophthalmology & Visual Science
|May 27, 2004
PubMed

Insights

Genetic variations in vascular endothelial growth factor (VEGF) may influence retinopathy of prematurity (ROP) progression. Infants with specific VEGF gene polymorphisms were more likely to develop severe ROP, suggesting VEGF as a potential therapeutic target.

Area of Science:

  • Ophthalmology
  • Genetics
  • Neonatology

Background:

  • Retinopathy of prematurity (ROP) is a significant cause of vision impairment in premature infants.
  • Retinal neovascularization in ROP is regulated by factors including vascular endothelial growth factor (VEGF).

Purpose of the Study:

  • To investigate the association between genetic polymorphisms in VEGF, TGF-beta1, and TNF-alpha and the development of progressive retinopathy of prematurity (ROP).
  • To determine if specific genetic variations are more prevalent in infants with threshold ROP compared to those with mild or no ROP.

Main Methods:

  • Genotyping was performed on DNA samples from 91 infants treated for threshold ROP and 97 comparison infants.
  • Frequencies of specific polymorphisms (VEGF -634 G-->C, VEGF *936 C-->T, TNF-alpha -308 G-->A, TGF-beta -509 C-->T) were analyzed.

Main Results:

  • No significant differences were found in the frequencies of VEGF *936 C-->T, TNF-alpha -308 G-->A, and TGF-beta -509 C-->T polymorphisms between the groups.
  • A significant difference in allele distribution was observed for VEGF -634 (P = 0.03).
  • Infants with the G allele at VEGF -634, linked to higher VEGF production, were twice as likely to have threshold ROP.

Conclusions:

  • Genetic variations in VEGF production may play a role in the progression of ROP to threshold ROP in very preterm infants.
  • Targeting excess VEGF production could be a future strategy for preventing threshold ROP.
Abstract

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