Evaluation of <i>Factor V Leiden, Prothrombin G20210A, MTHFR C677T</i> and <i>MTHFR A1298C</i> gene polymorphisms in retinopathy of prematurity in a Turkish cohort

<p><i>Background</i>: To assess <i>Factor V Leiden (FVL)</i> (rs6025), <i>Prothrombin G20210A</i> (rs1799963), <i>MTHFR C677T</i> (rs1801133), and <i>MTHFR A1298C</i> (rs1801131) gene mutations as risk factors in the development of retinopathy of prematurity (ROP).</p> <p><i>Materials and methods</i>: A total of 105 children were included in this cross-sectional study. Patients were divided into two groups. The study group consisted of 55 infants with a history of ROP and the control group comprised 50 healthy infants with term birth. All subjects were screened for the presence of certain mutations (<i>FVL, Prothrombin G20210A, MTHFR C677T</i> and <i>MTHFR A1298C</i>) by Real-Time PCR at 1 year of age.</p> <p><i>Results</i>: The mean gestational age (GA) and birth weight (BW) of the study group were, 28.65 ± 2.85 weeks and 1171 ± 385.74 g, respectively. There were no significant differences of genotype and allele frequency of <i>Prothrombin G20210A, MTHFR A1298C</i> and <i>MTHFR C677T</i> between the study and control groups (<i>p</i> > 0.05). Eight children (14.5 %) had heterozygous and one child (1.8%) had homozygous <i>FVL</i> mutation in the study group. One child (2%) in the control group had heterozygous <i>FVL</i> mutation. There was statistically significant differences of <i>FVL</i> allele and genotype frequencies between the groups (<i>p</i> < 0.05).</p> <p><i>Conclusions</i>: The prevalence of <i>FVL</i> polymorphism (16.3 %) was higher in ROP patients than control subjects in this Turkish cohort. We suggest a possible association of <i>FVL</i> mutation with ROP at the end of the study.</p