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• W1519712928 abstract "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 , SKIV 2 L and MYRIP were also studied. Design Prospective study. Participants Eighty‐seven AMD patients and 80 healthy subjects admitted to the D epartment of O phthalmology at P amukkale U niversity H ospital, D enizli, T urkey, were included: 45 (52%) had wet type AMD , and 42 (48%) had dry type AMD . Methods Polymorphisms rs1061170 ( CFH ), rs429608 ( SKIV 2 L ), rs2679798 ( MYRIP ) and both rs11549465 and rs11549467 ( HIF 1 A ) 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 ( SKIV 2 L ), rs2679798 ( MYRIP ) and both rs11549465 and rs11549467 ( HIF 1 A ) 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 ( SNP s) emerged between patients and healthy subjects. Conclusions No associations appeared between HIF 1 A SNP s and AMD , which were studied here for the first time; however, polymorphism rs1061170 of the CFH gene is associated with AMD in our population." @default.
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• W1519712928 date "2014-08-19" @default.
• W1519712928 modified "2023-10-18" @default.
• W1519712928 title "<i>HIF1A</i>as a major vascular endothelial growth factor regulator: do its polymorphisms have an association with age-related macular degeneration?" @default.
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• W1519712928 doi "https://doi.org/10.1111/ceo.12376" @default.
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