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HIF1A as a major VEGF regulator- does its polymorphisms have an association with AMD?

Poster Details

First Author: V.Okur TURKEY

Co Author(s):    O. Cetin   E. Cetin   E. Tepeli   Y. Bulgu   C. Yildirim      0   0 0   0 0   0 0   0 0

Abstract Details


To investigate the association between age-related macular degeneration (AMD) and the polymorphisms of HIF1A, which is a major VEGF regulator under hypoxic conditions. The associations of polymorphisms of CFH, SKIV2L and MYRIP genes and AMD were also studied.


Pamukkale University, Department of Medical Genetics, Denizli, TURKEY and Pamukkale University, Department of Ophthalmology, Denizli, TURKEY


rs1061170 (CFH), rs429608 (SKIV2L), rs2679798 (MYRIP) and rs11549465 and rs11549467 (HIF1A) polymorphisms were investigated in DNA samples isolated from peripheral blood samples of 87 AMD patients and 80 healthy subjects who admitted to the ophthalmology clinics of Pamukkale University Hospital between March 2012 and February 2013


We found that having at least one C allele for rs1061170 polymorphism increases AMD risk independent from age (OR= 2.42; 95%CI 1.22-4.81). The ancestral T allele for rs1061170 polymorphism has protective effect for AMD (OR=0.53; 95%CI 0.34-0.83). There is no statistically significant difference for distributions of the other SNPs between patients and healthy subjects.


We could not find any association between HIF1A SNPs and AMD, which was studied for the first time, however rs1061170 polymorphism of CFH gene is associated with AMD in our population

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