biostudies-literatureUnknown11Sarli A<h4>Background</h4>Age-related macular degeneration (AMD) is a multifactorial degenerative ocular disease that leads to loss of central vision. Functional gene polymorphisms have already been associated with the disease (for example, <i>ARMS2</i> A69S, rs10490924).<h4>Aim</h4>The goal of our study was to verify the correlation of the aforementioned <i>ARMS2</i> variation with the disease, to examine, for the first time, the role of the <i>CD14</i> C260T variation (rs2569190), and to investigate the association of two <i>TLR4</i> polymorphisms (Asp299Gly or rs4986790 and Thr399Ile or rs4986791) in a Greek population with the wet form of AMD.<h4>Patients and methods</h4>Genomic DNAs were isolated from blood samples of 103 healthy controls and 120 Greek patients with wet AMD who were age- and sex-matched, and all of whom were clinically evaluated. For the genotyping of all selected polymorphisms, polymerase chain reaction-restriction fragment length polymorphism analysis was performed.<h4>Results and conclusions</h4>This study confirmed the association between the <i>ARMS2</i> variation and AMD, detecting the T risk allele in a significantly higher frequency in the patient group, compared with the control subjects (45% vs 29.13%, <i>P</i><0.001, odds ratio [OR] 1.99, confidence interval 1.34-2.95). For the <i>CD14</i> polymorphism, no statistically significant correlation was observed. As for the <i>TLR4</i> polymorphisms, the percentage of heterozygotes increased from 2.9% to 11.7% in the patient population for Asp299Gly and from 1.9% to 10% for the Thr399Ile polymorphism (ORs 4.40 [<i>P</i>=0.01] and 5.61 [<i>P</i>=0.0088], respectively). Although our <i>ARMS2</i> and <i>CD14</i> results provided definite conclusions, the role of innate immunity <i>TLR4</i> gene awaits further investigation in larger AMD populations with more clinical data collected on past microbial infections.Clinical ophthalmology (Auckland, N.Z.)1347-1358https://www.ebi.ac.uk/biostudies/studies/S-EPMC5538696biostudies-literatureInvestigation of associations of <i>ARMS2</i>, <i>CD14</i>, and <i>TLR4</i> gene polymorphisms with wet age-related macular degeneration in a Greek population.PMC5538696Velissari AKoutsandrea CStefaniotou MSarli AKroupis CKitsos GPetersen MBMoschos MMSkalidakis IfalseInvestigation of associations of <i>ARMS2</i>, <i>CD14</i>, and <i>TLR4</i> gene polymorphisms with wet age-related macular degeneration in a Greek population.<h4>Background</h4>Age-related macular degeneration (AMD) is a multifactorial degenerative ocular disease that leads to loss of central vision. Functional gene polymorphisms have already been associated with the disease (for example, <i>ARMS2</i> A69S, rs10490924).<h4>Aim</h4>The goal of our study was to verify the correlation of the aforementioned <i>ARMS2</i> variation with the disease, to examine, for the first time, the role of the <i>CD14</i> C260T variation (rs2569190), and to investigate the association of two <i>TLR4</i> polymorphisms (Asp299Gly or rs4986790 and Thr399Ile or rs4986791) in a Greek population with the wet form of AMD.<h4>Patients and methods</h4>Genomic DNAs were isolated from blood samples of 103 healthy controls and 120 Greek patients with wet AMD who were age- and sex-matched, and all of whom were clinically evaluated. For the genotyping of all selected polymorphisms, polymerase chain reaction-restriction fragment length polymorphism analysis was performed.<h4>Results and conclusions</h4>This study confirmed the association between the <i>ARMS2</i> variation and AMD, detecting the T risk allele in a significantly higher frequency in the patient group, compared with the control subjects (45% vs 29.13%, <i>P</i><0.001, odds ratio [OR] 1.99, confidence interval 1.34-2.95). For the <i>CD14</i> polymorphism, no statistically significant correlation was observed. As for the <i>TLR4</i> polymorphisms, the percentage of heterozygotes increased from 2.9% to 11.7% in the patient population for Asp299Gly and from 1.9% to 10% for the Thr399Ile polymorphism (ORs 4.40 [<i>P</i>=0.01] and 5.61 [<i>P</i>=0.0088], respectively). Although our <i>ARMS2</i> and <i>CD14</i> results provided definite conclusions, the role of innate immunity <i>TLR4</i> gene awaits further investigation in larger AMD populations with more clinical data collected on past microbial infections.2017-01-01T00:00:00Z20172024-11-05T18:57:37.043Z2019-03-27T02:52:18ZS-EPMC55386962879461210.2147/OPTH.S134538