PMID- 29465286 OWN - NLM STAT- MEDLINE DCOM- 20190410 LR - 20190410 IS - 1744-5094 (Electronic) IS - 1381-6810 (Linking) VI - 39 IP - 3 DP - 2018 Jun TI - Genetic association of single nucleotide polymorphisms of FZD4 and BDNF genes with retinopathy of prematurity. PG - 332-337 LID - 10.1080/13816810.2018.1432064 [doi] AB - BACKGROUND: Retinopathy of prematurity (ROP) is a multifactorial disease occurring in preterm neonates, caused by incorrect development of retinal blood vessels. It has been suggested that, in addition to gestational age, weight, and oxygen supplementation, genetic factors can play a role in the pathogenesis of ROP. METHODS: In the present prospective study, 97 neonates were enrolled based on the gestational age and weight, and genomic DNA from patients diagnosed with ROP and premature newborns without ROP was collected. The DNA sequence of protein coding and 5 and 3 untranslated regions (UTRs) of the frizzled-4 (FZD4) gene and the genotype of the locus rs7934165:G>A (NM_170731.4: c.3 + 10976 C>T) within the brain-derived neurotrophic factor gene (BDNF) were determined. RESULTS: We detected a significant association between rs61749246:C>A (NM_012193.3: c.*2G>T) and ROP in a general genetic model as well as in a multiplicative model and by the Cochran-Armitage test for trend. Moreover, rs61749246 was strongly associated with ROP, requiring surgical intervention. CONCLUSION: We suggest that rs61749246:C>A of the FZD4 gene is likely associated with the development of ROP. It is necessary to confirm this suggestion in larger studies. FAU - Lasabova, Zora AU - Lasabova Z AD - a Biomedical Center Martin, Jessenius Faculty of Medicine , Comenius University , Martin , Slovakia. AD - b Department of Molecular Biology, Jessenius Faculty of Medicine , Comenius University , Martin , Slovakia. FAU - Stanclova, Andrea AU - Stanclova A AD - a Biomedical Center Martin, Jessenius Faculty of Medicine , Comenius University , Martin , Slovakia. FAU - Grendar, Marian AU - Grendar M AD - a Biomedical Center Martin, Jessenius Faculty of Medicine , Comenius University , Martin , Slovakia. FAU - Mikolajcikova, Silvia AU - Mikolajcikova S AD - c Clinic of Neonatology, Jessenius Faculty of Medicine , Comenius University and University Hospital in Martin , Martin , Slovakia. FAU - Calkovska, Andrea AU - Calkovska A AD - d Department of Physiology, Jessenius Faculty of Medicine , Comenius University , Martin , Slovakia. FAU - Lenhartova, Nina AU - Lenhartova N AD - c Clinic of Neonatology, Jessenius Faculty of Medicine , Comenius University and University Hospital in Martin , Martin , Slovakia. FAU - Ziak, Peter AU - Ziak P AD - e Eye Clinic, Jessenius Faculty of Medicine , Comenius University and University Hospital in Martin , Martin , Slovakia. FAU - Matasova, Katarina AU - Matasova K AD - c Clinic of Neonatology, Jessenius Faculty of Medicine , Comenius University and University Hospital in Martin , Martin , Slovakia. FAU - Caprnda, Martin AU - Caprnda M AD - f 2nd Department of Internal Medicine , Faculty of Medicine and University Hospital , Bratislava , Slovakia. FAU - Kruzliak, Peter AU - Kruzliak P AD - g Department of Chemical Drugs, Faculty of Pharmacy , University of Veterinary and Pharmaceutical Sciences , Brno , Czech Republic. FAU - Zibolen, Mirko AU - Zibolen M AD - c Clinic of Neonatology, Jessenius Faculty of Medicine , Comenius University and University Hospital in Martin , Martin , Slovakia. LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't DEP - 20180221 PL - England TA - Ophthalmic Genet JT - Ophthalmic genetics JID - 9436057 RN - 0 (Brain-Derived Neurotrophic Factor) RN - 0 (FZD4 protein, human) RN - 0 (Frizzled Receptors) RN - 7171WSG8A2 (BDNF protein, human) SB - IM MH - Adult MH - Brain-Derived Neurotrophic Factor/genetics MH - Case-Control Studies MH - Female MH - Frizzled Receptors/*genetics MH - Genotype MH - Gestational Age MH - Humans MH - Male MH - *Polymorphism, Single Nucleotide MH - Prospective Studies MH - Retinopathy of Prematurity/*genetics/pathology MH - Risk Factors OTO - NOTNLM OT - Brain-derived neurotrophic factor (BDNF) OT - frizzled-4 gene (FZD4) OT - genetic association OT - retinopathy of prematurity OT - untranslated region EDAT- 2018/02/22 06:00 MHDA- 2019/04/11 06:00 CRDT- 2018/02/22 06:00 PHST- 2018/02/22 06:00 [pubmed] PHST- 2019/04/11 06:00 [medline] PHST- 2018/02/22 06:00 [entrez] AID - 10.1080/13816810.2018.1432064 [doi] PST - ppublish SO - Ophthalmic Genet. 2018 Jun;39(3):332-337. doi: 10.1080/13816810.2018.1432064. Epub 2018 Feb 21.