Abstract

P 095

The role of the mothers and the infants MTHFR 677C>T genotypes in the occurrence and progression of retinopathy of prematurity

Anna Gotz-Wieckowska1, E. Strauss2, Janusz Gadzinowski1, A. Pawlak2
1Department of Ophthalmology, University of Medical Sciences, Poznan, Poland, 2Polish Academy of Sciences, Poznan, Poland

Objective
Assessment of the role of  MTHFR gene 677C>T polymorphism in pathogenesis of ROP, by  settling 1) settling the mothers or the infants genotypes are the effective risk factors, 2) whether they are specific for development of ROP, or rather for preterm delivery, only by that fact increasing frequency of ROP.
Methods
The prospective study of 214 infants born at gestational age of 30 weeks or less. Preterm newborns monitored for ROP occurrence up to the age of 3 months (N=196) were classified by the retina condition into 3 groups: non-ROP controls (43,4%), ROP cases in whom disease regressed spontaneously (31,6%) and ROP cases in which disease progressed to advanced stages (stages 4-5, 25,0%). The MTHFR 677C>T polymorphism in infants (N=113), their mothers (N=88) as well as mothers without pregnancy complications (controls; N=164) and random population sample (N=238) were determined using PCR-RFLP method. The associations between 677C>T genotypes in mothers and infants and the advancement of retinopathy of prematurity, preterm delivery and infant mortality were studied.
Results
Short gestational age, low birth weight and prolonged oxygen treatment were the most important risk factors for ROP progression (for all factors p<0,0001). The frequency of 677T allele carriers was higher in the group of mothers with preterm delivery, than in control mothers, and in infants dying before the end of the 3 months of life than in infants surviving to that time. The frequency of 677T allele in non-ROP controls (0,19) was lower than in subjects with proliferative ROP (0,30; p=0,1) or in the population (0,33; p=0,01). The 677T allele in mothers does not influence the risk of ROP.
Conclusions
The 677T allele and 677TT genotype in infants were associated both with the survival up to 3 months and the ROP progression, whereas 677C allele and 677CC genotype have protective effects. The 677T allele in mothers may be involved in the preterm delivery, but not in ROP occurrence or progression.

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