Hatip Aydin1, Murat Gunay2, Gokhan Celik2, Betul Onal Gunay3, Umeyye Taka Aydin4, Ali Karaman1. 1. a Center of Genetics Diagnosis, Zeynep Kamil Maternity and Children's Disease Training and Research Hospital , Istanbul , Turkey. 2. b Department of Ophthalmology, ROP Screening , Treatment and Training Center, Zeynep Kamil Maternity and Children's Disease Training and Research Hospital , Istanbul , Turkey. 3. c Department of Ophthalmology , Umraniye Training and Research Hospital , Istanbul , Turkey. 4. d Department of Ophthalmology, Tuzla State Hospital , Istanbul , Turkey.
Abstract
BACKGROUND: 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). MATERIALS AND METHODS: 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. RESULTS: 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). CONCLUSIONS: 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.
BACKGROUND: To assess Factor V Leiden (FVL) (rs6025), ProthrombinG20210A (rs1799963), MTHFR C677T (rs1801133), and MTHFRA1298C (rs1801131) gene mutations as risk factors in the development of retinopathy of prematurity (ROP). MATERIALS AND METHODS: 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, ProthrombinG20210A, MTHFR C677T and MTHFRA1298C) by Real-Time PCR at 1 year of age. RESULTS: 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 ProthrombinG20210A, MTHFRA1298C 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). CONCLUSIONS: 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.
Entities:
Keywords:
Genetic mutation; retinopathy of prematurity; thrombophilia
Authors: Sang Jin Kim; Alexander D Port; Ryan Swan; J Peter Campbell; R V Paul Chan; Michael F Chiang Journal: Surv Ophthalmol Date: 2018-04-19 Impact factor: 6.048
Authors: Emily A Partridge; Marcus G Davey; Matthew A Hornick; Patrick E McGovern; Ali Y Mejaddam; Jesse D Vrecenak; Carmen Mesas-Burgos; Aliza Olive; Robert C Caskey; Theodore R Weiland; Jiancheng Han; Alexander J Schupper; James T Connelly; Kevin C Dysart; Jack Rychik; Holly L Hedrick; William H Peranteau; Alan W Flake Journal: Nat Commun Date: 2017-04-25 Impact factor: 14.919