Please use this identifier to cite or link to this item: https://hdl.handle.net/11499/10294
Title: HIF1A as a major vascular endothelial growth factor regulator: Do its polymorphisms have an association with age-related macular degeneration?
Authors: Okur, Volkan.
Çetin, Ozan
Çetin, Ebru
Tepeli, E.
Bulgu, Y.
Yildirim, C.
Keywords: AMD
CFH
HIF1A
MYRIP
SKIV2L
age
age related macular degeneration
aged
allele
Article
blood analysis
CFH gene
controlled study
DNA isolation
DNA sequence
female
gene
gene frequency
genetic association
genetic risk
genotype
HIF1A gene
hospital admission
human
major clinical study
male
MYRIP gene
prospective study
single nucleotide polymorphism
SKIV2L gene
genetics
geographic atrophy
metabolism
middle aged
polymerase chain reaction
wet macular degeneration
complement factor H
complement factor H, human
DNA helicase
HIF1A protein, human
hypoxia inducible factor 1alpha
MYRIP protein, human
SKIV2L protein, human
vasculotropin A
VEGFA protein, human
vesicular transport protein
Aged
Complement Factor H
DNA Helicases
Female
Gene Frequency
Genotype
Geographic Atrophy
Humans
Hypoxia-Inducible Factor 1, alpha Subunit
Male
Middle Aged
Polymerase Chain Reaction
Polymorphism, Single Nucleotide
Prospective Studies
Sequence Analysis, DNA
Vascular Endothelial Growth Factor A
Vesicular Transport Proteins
Wet Macular Degeneration
Publisher: Blackwell Publishing
Abstract: Background: To investigate the association between age-related macular degeneration (AMD) and the polymorphisms of HIF1A, a major vascular epithelial growth factor regulator under hypoxic conditions. The associations of AMD and polymorphisms of genes CFH, SKIV2L and MYRIP were also studied. Design: Prospective study. Participants: Eighty-seven AMD patients and 80 healthy subjects admitted to the Department of Ophthalmology at Pamukkale University Hospital, Denizli, Turkey, were included: 45 (52%) had wet type AMD, and 42 (48%) had dry type AMD. Methods: Polymorphisms rs1061170 (CFH), rs429608 (SKIV2L), rs2679798 (MYRIP) and both rs11549465 and rs11549467 (HIF1A) were investigated in DNA isolated from peripheral blood samples of the cases and controls by dye-termination DNA sequencing. Main Outcome Measures: Genotype distribution of rs1061170 (CFH), rs429608 (SKIV2L), rs2679798 (MYRIP) and both rs11549465 and rs11549467 (HIF1A) in AMD cases and healthy controls; association between genotypes and AMD subtypes. Results: Given the significant difference between the mean age of case and control groups (72.13±5.77 vs. 62.80±5.22, respectively) (P=.000), subsequent analyses were adjusted for age. We found that having at least one C allele for polymorphism rs1061170 increases AMD risk independent of age (OR=2.42, 95% confidence interval [CI], 1.22-4.81). The ancestral T allele for polymorphism rs1061170 has a protective effect for AMD (OR=0.53, 95% CI, 0.34-0.83). No statistically significant difference for distributions of other single nucleotide polymorphisms (SNPs) emerged between patients and healthy subjects. Conclusions: No associations appeared between HIF1A SNPs and AMD, which were studied here for the first time; however, polymorphism rs1061170 of the CFH gene is associated with AMD in our population. © 2014 Royal Australian and New Zealand College of Ophthalmologists.
URI: https://hdl.handle.net/11499/10294
https://doi.org/10.1111/ceo.12376
ISSN: 1442-6404
Appears in Collections:PubMed İndeksli Yayınlar Koleksiyonu / PubMed Indexed Publications Collection
Scopus İndeksli Yayınlar Koleksiyonu / Scopus Indexed Publications Collection
Tıp Fakültesi Koleksiyonu
WoS İndeksli Yayınlar Koleksiyonu / WoS Indexed Publications Collection

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