title: HIF1A as a major vascular endothelial growth factor regulator: do its polymorphisms have an association with age-related macular degeneration?
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.
  
  
  METHODS
  Prospective study.
  
  
  METHODS
  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.
  
  
  METHODS
  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.
authors.affiliation: Department of Medical Genetics, Medical School of Pamukkale University, Denizli, Turkey.
authors.forename: Volkan
authors.initials: V
authors.lastname: Okur
authors.forename: Ozan
authors.initials: O
authors.lastname: Cetin
authors.forename: Ebru
authors.initials: E
authors.lastname: Cetin
authors.forename: Emre
authors.initials: E
authors.lastname: Tepeli
authors.forename: Yunus
authors.initials: Y
authors.lastname: Bulgu
authors.forename: Cem
authors.initials: C
authors.lastname: Yildirim
mesh_terms: D000368:Aged; D017242:Complement Factor H / Q000235:genetics; D004265:DNA Helicases / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D057092:Geographic Atrophy / Q000235:genetics*; D006801:Humans; D051795:Hypoxia-Inducible Factor 1, alpha Subunit / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D011446:Prospective Studies; D017422:Sequence Analysis, DNA; D042461:Vascular Endothelial Growth Factor A / Q000378:metabolism*; D033921:Vesicular Transport Proteins / Q000235:genetics; D057135:Wet Macular Degeneration / Q000235:genetics*
chemical_list: C493495:CFH protein, human; C497442:HIF1A protein, human; D051795:Hypoxia-Inducible Factor 1, alpha Subunit; C501262:MYRIP protein, human; C467484:VEGFA protein, human; D042461:Vascular Endothelial Growth Factor A; D033921:Vesicular Transport Proteins; D017242:Complement Factor H; D004265:DNA Helicases; C114718:SKIV2L protein, human
keywords: AMD; CFH; HIF1A; MYRIP; SKIV2L