{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["11"],"submitter":["Sarli A"],"pubmed_abstract":["<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."],"journal":["Clinical ophthalmology (Auckland, N.Z.)"],"pagination":["1347-1358"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC5538696"],"repository":["biostudies-literature"],"pubmed_title":["Investigation 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."],"pmcid":["PMC5538696"],"pubmed_authors":["Velissari A","Koutsandrea C","Stefaniotou M","Sarli A","Kroupis C","Kitsos G","Petersen MB","Moschos MM","Skalidakis I"],"additional_accession":[]},"is_claimable":false,"name":"Investigation 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.","description":"<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.","dates":{"release":"2017-01-01T00:00:00Z","publication":"2017","modification":"2024-11-05T18:57:37.043Z","creation":"2019-03-27T02:52:18Z"},"accession":"S-EPMC5538696","cross_references":{"pubmed":["28794612"],"doi":["10.2147/OPTH.S134538"]}}