Evaluation of CNTNAP2 gene rs2107856 polymorphism in Turkish population with pseudoexfoliation syndrome

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dc.contributor.authorKaraca, Irmak
dc.contributor.authorYilmaz, Suzan Guven
dc.contributor.authorPalamar, Melis
dc.contributor.authorOnay, Huseyin
dc.contributor.authorAkgun, Bilcag
dc.contributor.authorAytacoglu, Burcu
dc.contributor.authorAykut, Ayca
dc.contributor.authorÖzkınay, Feristah Ferda
dc.date.accessioned2019-10-27T09:59:05Z
dc.date.available2019-10-27T09:59:05Z
dc.date.issued2019
dc.departmentEge Üniversitesien_US
dc.descriptionMeeting of the Turkish-Ophthalmology-Society -- 2016 -- Antalya, TURKEYen_US
dc.description.abstractPurposeTo investigate rs2107856 single-nucleotide polymorphism (SNP) of CNTNAP2 gene in Turkish population with pseudoexfoliation and to correlate clinical characteristics with the genotypic profile.Materials and methodsForty-three patients with pseudoexfoliation syndrome (PXS), 46 patients with pseudoexfoliation glaucoma (PXG) and 99 healthy controls were enrolled. Comprehensive ophthalmological examination, central corneal thickness measurement and retinal nerve fiber layer thickness analysis of the peripapillary area were performed. Blood samples of 2mL with EDTA were obtained and sent for genetic analysis. The role of the detected polymorphism on disease tendency along with the genotype and allele frequencies in each group was evaluated.ResultsThe mean age of the groups was 70.08.0 (range 51-86) in PXS, 71.2 +/- 8.8 (range 51-93) in PXG and 64.6 +/- 8.3 (range 51-91) in controls. The percentages of homozygote individuals were 11.6, 10.9, 21.2%, and heterozygote individuals were 41.9, 45.7, 42.4% in patients with PXS, PXG and controls, respectively. There was no statistically significant difference between groups in terms of both genotype and allele frequencies of rs2107856 (p=0.429 and p=0.178, respectively). Retinal nerve fiber layer thickness did not differ between SNP-positive and SNP-negative individuals in PXG, and there was no significant difference between genotype and age, sex, best corrected visual acuity, intraocular pressure, central corneal thickness, cup/disk ratio and retinal nerve fiber layer thickness in any of the groups (p>0.05).Conclusion rs2107856 SNP of CNTNAP2 gene has no association with PXS and PXG in the evaluated Turkish population.en_US
dc.description.sponsorshipTurkish Ophthalmol Socen_US
dc.description.sponsorshipScientific Research Foundation of Ege University School of Medicine [2014-TIP-080]en_US
dc.description.sponsorshipThis research was supported by Scientific Research Foundation of Ege University School of Medicine (2014-TIP-080).en_US
dc.identifier.doi10.1007/s10792-017-0800-3en_US
dc.identifier.endpage173en_US
dc.identifier.issn0165-5701
dc.identifier.issn1573-2630
dc.identifier.issue1en_US
dc.identifier.pmid29260496en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage167en_US
dc.identifier.urihttps://doi.org/10.1007/s10792-017-0800-3
dc.identifier.urihttps://hdl.handle.net/11454/29565
dc.identifier.volume39en_US
dc.identifier.wosWOS:000460077900018en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherSpringeren_US
dc.relation.ispartofInternational Ophthalmologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectPseudoexfoliationen_US
dc.subjectGlaucomaen_US
dc.subjectCNTNAP2 geneen_US
dc.subjectPolymorphismen_US
dc.titleEvaluation of CNTNAP2 gene rs2107856 polymorphism in Turkish population with pseudoexfoliation syndromeen_US
dc.typeArticleen_US

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