Evaluation of the frequency of complement factor i genepolymorphism in Turkish age related macular degeneration population

Evaluation of the Frequency of Complement Factor I Gene Polymorphism in Turkısh Age Related Macular Degeneration Population. Hacettepe University School of Medicine, Department of Ophthalmology, Thesis in Ophthalmology, Ankara, 2018. Our aim in this study is to determine the frequency of Complement Factor I (CFI) patients with Age Related Macular Degeneration (AMD) and in healthy controls in Turkish population. The patient group was composed of individuals with AMD diagnosis and the control group was composed of individuals without any disease affecting retina. All of the cases and controls were questioned about age, gender, smoking history, presence of hypertension and family history in terms of AMD. CFI rs10033900 and rs2285714 polymorphism were studied from venous blood samples. Central macular thickness (CMT) and subfoveal choroidal thickness (SCT) were measured, presence of reticular drusen, epiretinal membrane and pigment epithelial detachment were investigated with SD- OCT. At dry type AMD the widest diameter of atrophy areas were measured with fundus autofluorescence in SD- OCT. The drusen location, shape and size was documented with fundus photography. Fundus fluorescein angiography was used to calculate the lesion width at wet type AMD at the time of initial diagnosis. SPSS 21.0 was used as statistical program. All of the identified polymorphisms were evaluated by the χ2 test for HWE (Hardy-Weinberg Equilibrium). In this study, 111 eyes of 111 patients with AMD (65 wet type, 46 dry type) and 96 eyes of 96 helty controls were included. The mean age of the patients was 71.9 ± 8.6 (55-90) and the mean age of the controls was 71.2 ± 6.6 (58-90) years (p = 0.495). There was no difference between the two groups in terms of gender distribution (p = 0.156). There was no difference between the patient and control groups for rs10033900 and rs 2285714 polymorphism (p = 0.788, OR = 1.055 (0.71 - 1.56), p = 0.275, OR = 1.246 (0.83-1.85), respectively).The frequency of polymorphism between wet, dry type AMD and the control group had no significancy, and also among themselves with the wet and dry type AMD groups there was no difference for two polymorphism. When the values were adjusted for age and gender, the frequency of C allele was higher in dry type AMD group for rs10033900 polymorphism and in all patient group for rs2285714 polymorphism but it was not statistically significant. No difference between in the distribution of the drusen and polymorphism in terms of its size and shape, whether it was outside the arcuate or nazal to the optic disc. Reticular drusen, ERM presence, PED subclasses, lesion width, atrophy diameter and polymorphism distributions did not differ statistically. The CT allele frequency was found to be significantly higher in patients with RPE pigmentation than in those without it at dry type AMD group. In the group without RPE pigmentation, the CC allele was more frequent (p = 0.041). The choroid in TT allele carriers of the rs2285714 polymorphism was significantly thinner (p = 0.030). As a result, CFI rs10033900 and rs2285714 polymorphisms in the Turkish population were not associated with AMD. Keywords: Complement Factor I Polymorphism, Age Related Macula Degeneration, Turkish Population