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Eleftherios Anastasopoulos, Anastasia Kakoulidou, Anne L. Coleman, Janet S. Sinsheimer, M R. Wilson, III, Fei Yu, Aggeliki Salonikiou, Panagiota Founti, Alexandros Lambropoulos, Fotis Topouzis; Sequence Variation In The CX3CR1 Gene Is Associated With Advanced Age-related Macular Degeneration In A Greek Population. Invest. Ophthalmol. Vis. Sci. 2011;52(14):5219.
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CX3CR1 single nucleotide polymorphisms (SNPs) have been found to be associated with age-related diseases including age-related macular degeneration (AMD). The purpose of this study was to investigate the possible association of two SNPs in the CX3CR1 gene with severity of AMD in a population-based setting coming from Thessaloniki Eye study (TES).
The TES is a cross-sectional population-based epidemiologic study of chronic eye diseases in Thessaloniki, Greece. A total of 371 subjects were included and their AMD status was classified according to the International Classification and Grading system. Subjects with AMD grades 0-2 (n=277) were compared to those with AMD grade 3 (n=49) and to those with AMD grade 4-5 (n=45) with regard to the presence of CX3CR1 polymorphisms (V249I and T280M). The log-additive allelic model was used. Polychotomous logistic regression analysis adjusted for age, gender, and smoking was contacted for comparison.
Participants with AMD grades 4-5 were 2.2 times more likely to carry the VI249 and 4.9 times more likely to carry the II249 alleles, compared to those with AMD grades 0-2 (p=0.009). Subjects with AMD grade 3 did not differ with those with grades 0-2 . The T280M polymorphism was not associated with either AMD grade 3 or AMD grades 4-5.
In TES, after adjusting for risk factors, increased risk of advanced AMD among the carriers of the V249I polymorphism in the CX3CR1 gene was found. Our study failed to confirm the association with the T280M polymorphism as reported in two previous studies.
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