title: Next-generation sequencing analysis of the ARMS2 gene in Turkish exudative age-related macular degeneration patients.
abstract: Age-related macular degeneration (AMD) is the leading cause of blindness in developed countries. It is a complex disease with both genetic and environmental risk factors. To improve clinical management of this condition, it is important to develop risk assessment and prevention strategies for environmental influences, and establish a more effective treatment approach. The aim of the present study was to investigate age-related maculopathy susceptibility protein 2 (ARMS2) gene sequences among Turkish patients with exudative AMD. In addition to 39 advanced exudative AMD patients, 250 healthy individuals for whom exome sequencing data were available were included as a control group. Patients with a history of known environmental and systemic AMD risk factors were excluded. Genomic DNA was isolated from peripheral blood and analyzed using next-generation sequencing. All coding exons of the ARMS2 gene were assessed. Three different ARMS2 sequence variations (rs10490923, rs2736911, and rs10490924) were identified in both the patient and control group. Within the control group, two further ARMS2 gene variants (rs7088128 and rs36213074) were also detected. Logistic regression analysis revealed a relationship between the rs10490924 polymorphism and AMD in the Turkish population.
authors.affiliation: Department of Ophthalmology, Haydarapaşa Numune Training and Research Hospital, Uskudar, Istanbul, Turkey handanbardak@yahoo.com.tr.
authors.forename: H
authors.initials: H
authors.lastname: Bardak
authors.affiliation: Department of Ophthalmology, Zeynep Kamil Maternity and Children's Diseases Training and Research Hospital, Uskudar, İstanbul, Turkey.
authors.forename: M
authors.initials: M
authors.lastname: Gunay
authors.affiliation: Department of Ophthalmology, Haydarapaşa Numune Training and Research Hospital, Uskudar, Istanbul, Turkey.
authors.forename: Y
authors.initials: Y
authors.lastname: Ercalik
authors.affiliation: Department of Ophthalmology, Haydarapaşa Numune Training and Research Hospital, Uskudar, Istanbul, Turkey.
authors.forename: Y
authors.initials: Y
authors.lastname: Bardak
authors.affiliation: Department of Medical Genetics, Suleyman Demirel University, Faculty of Medicine, Isparta, Turkey.
authors.forename: H
authors.initials: H
authors.lastname: Ozbas
authors.affiliation: Department of Medical Genetics, Suleyman Demirel University, Faculty of Medicine, Isparta, Turkey.
authors.forename: O
authors.initials: O
authors.lastname: Bagci
mesh_terms: D005260:Female; D020022:Genetic Predisposition to Disease; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D008268:Macular Degeneration / Q000235:genetics*; D008297:Male; D011506:Proteins / Q000235:genetics*; D012306:Risk; D014421:Turkey
chemical_list: C514392:ARMS2 protein, human; D011506:Proteins