Association of ARMS2 gene rs10490924 and HTRA1 gene rs11200638 Polymorphisms with Exudative Age-Related Macular Degeneration in Western Aegean Population of Turkey

Abstract

Purpose: The purpose of the study was to investigate the relation between ARMS2 rs10490924 and HTRA1 rs11200638 polymorphisms, gender and exudative Age-Related Macular Degeneration (AMD) in Western Aegean population of Turkey. Materials and Methods: Diagnosis of exudative AMD was established on the basis of fundus examination, spectral domain optical coherence tomography and fluorescein angiography. Genomic DNA samples were extracted from 75 patients with exudative AMD and 75 healthy controls. Polymerase chain reaction-restriction fragment length polymorphism method was used to determine genotype frequencies of the rs10490924 and rs11200638 polymorphisms. Results: In the evaluations regardless of gender, thymine risk allele of the rs10490924 was slightly frequent in the exudative AMD group than in controls (p:0.028; OR: 1.291). Women with risk allel for rs10490924 had a higher risk for exudative AMD (p= 0.009, OR= 2.527) than men (p=0.504, OR= 1.233). The disease risk in those with TT genotype was higher in women (p:0.025, OR:5.14) than in men (p= 0.621,OR= 1.54). The risk allele (A) of rs11200638 was significantly associated with the disease in women (p= 0.004, OR= 2.917). Additionally, the frequency of AA genotype was higher in women patients (p= 0.016, OR= 4.53) than in men (p= 0.666, OR= 0.88). Conclusions: To our knowledge, our study is the first one showing that the relation between the rs11200638 and exudative AMD development is more in female gender. We suggest that the relation between rs11200638 polymorphism and this disease be investigated in larger populations.