title: Evaluation of Factor V Leiden, Prothrombin G20210A, MTHFR C677T and MTHFR A1298C gene polymorphisms in retinopathy of prematurity in a Turkish cohort.
abstract: To assess Factor V Leiden (FVL) (rs6025), Prothrombin G20210A (rs1799963), MTHFR C677T (rs1801133), and MTHFR A1298C (rs1801131) gene mutations as risk factors in the development of retinopathy of prematurity (ROP).
  
  
  
  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 (FVL, Prothrombin G20210A, MTHFR C677T and MTHFR A1298C) by Real-Time PCR at 1 year of age.
  
  
  
  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 Prothrombin G20210A, MTHFR A1298C and MTHFR C677T between the study and control groups (p > 0.05). Eight children (14.5 %) had heterozygous and one child (1.8%) had homozygous FVL mutation in the study group. One child (2%) in the control group had heterozygous FVL mutation. There was statistically significant differences of FVL allele and genotype frequencies between the groups (p < 0.05).
  
  
  
  The prevalence of FVL polymorphism (16.3 %) was higher in ROP patients than control subjects in this Turkish cohort. We suggest a possible association of FVL mutation with ROP at the end of the study.
authors.affiliation: a Center of Genetics Diagnosis, Zeynep Kamil Maternity and Children's Disease Training and Research Hospital , Istanbul , Turkey.
authors.forename: Hatip
authors.initials: H
authors.lastname: Aydin
authors.affiliation: b Department of Ophthalmology, ROP Screening , Treatment and Training Center, Zeynep Kamil Maternity and Children's Disease Training and Research Hospital , Istanbul , Turkey.
authors.forename: Murat
authors.initials: M
authors.lastname: Gunay
authors.affiliation: b Department of Ophthalmology, ROP Screening , Treatment and Training Center, Zeynep Kamil Maternity and Children's Disease Training and Research Hospital , Istanbul , Turkey.
authors.forename: Gokhan
authors.initials: G
authors.lastname: Celik
authors.affiliation: c Department of Ophthalmology , Umraniye Training and Research Hospital , Istanbul , Turkey.
authors.forename: Betul Onal
authors.initials: BO
authors.lastname: Gunay
authors.affiliation: d Department of Ophthalmology, Tuzla State Hospital , Istanbul , Turkey.
authors.forename: Umeyye Taka
authors.initials: UT
authors.lastname: Aydin
authors.affiliation: a Center of Genetics Diagnosis, Zeynep Kamil Maternity and Children's Disease Training and Research Hospital , Istanbul , Turkey.
authors.forename: Ali
authors.initials: A
authors.lastname: Karaman
mesh_terms: D001724:Birth Weight; D003430:Cross-Sectional Studies; D005165:Factor V / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D060005:Genotyping Techniques; D005865:Gestational Age; D064368:Healthy Volunteers; D006801:Humans; D007223:Infant; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D015995:Prevalence; D011516:Prothrombin / Q000235:genetics*; D060888:Real-Time Polymerase Chain Reaction; D012178:Retinopathy of Prematurity / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D012307:Risk Factors; D014421:Turkey / Q000453:epidemiology
chemical_list: C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin; C573423:MTHFR protein, human; D042965:Methylenetetrahydrofolate Reductase (NADPH2)
keywords: Genetic mutation; retinopathy of prematurity; thrombophilia