Three Single Nucleotide Polymorphisms of LOXL1’ in a Turkish Population with Pseudoexfoliation Syndrome and Pseudoexfoliation Glaucoma
Journal Title: TÜRK OFTALMOLOJİ DERGİSİ - Year 2018, Vol 48, Issue 5
Abstract
Objectives: To investigate the three single nucleotide polymorphisms (SNPs) (rs3825942, rs1048661, and rs2165241) of the LOXL1 gene in pseudoexfoliation syndrome (XFS) and pseudoexfoliation glucoma (XFG) in the Turkish population. Materials and Methods: DNA was obtained from blood samples of 48 XFS, 58 XFG, and 171 control subjects. Three LOXL1 SNPs (rs3825942, rs1048661, rs2165241) were investigated with real time PCR, a probe-based genotyping method, and melting curve analysis. Results: All three SNPs of LOXL1 were significantly associated with XFS (rs3825942 p=3.54x10-6, odds ratio [OR]=∞; rs1048661 p=0.008, OR=2.18; rs2165241 p=8.69x10-9, OR=4.30) and XFG (rs3825942 p=3.41x10-7, OR=∞; rs1048661 p=1.75x10-5, OR=3.78; rs2165241 p=3.85x10-11 OR=4.90). No significant differences were observed between the XFS and XFG groups for any of the SNPs. The GG genotype of rs3825942 was more valuable for distinguishing pseudoexfoliative cases from healthy individuals. The homozygous TT genotype of rs2165241 was associated with 6-fold increased XFS risk (p=8.15x10-8, OR=6.32) and 7-fold increased XFG risk (p=1.45x10-10 OR=7.95). The GGT haplotype consisting of all three risk alleles was associated with a 7.45-fold higher risk of XFS/XFG (p=8.65x10-14, OR=7.45). Presence of T allele of rs2165241 conferred 3 times higher risk for men than women (p=6.78x10-5, OR=3.202). Conclusion: LOXL1 SNPs are associated with increased risk for pseudoexfoliation in the Turkish population. T allele of rs2165241 was found to be the most important characterized risk factor for our cohort. All SNP distributions were similar to other European and American populations.
Authors and Affiliations
Yetkin Yaz, Nilgün Yıldırım, Yasemin Aydın Yaz, Oğuz Çilingir, Zafer Yüksel, Fezan Mutlu
Keywords
Related Articles
- EP ID EP407487
- DOI 10.4274/tjo.83797
- Views 93
- Downloads 0
Clinical Profile and Treatment Response of Patients with Ocular Inflammation due to Presumed Ocular Tuberculosis: A Retrospective Study
Objectives: Ocular tuberculosis is an extrapulmonary tuberculous infection and has varying manifestations which pose a huge challenge to diagnosis and treatment. The purpose of this study is to describe the various clini...
Comparison of Icare Pro Tonometry and Icare One Tonometry Measurements in Healthy Eyes
Objectives: To compare intraocular pressure (IOP) measurements obtained with the Icare Pro tonometer used in clinical practice, and the Icare One self-tonometer. Materials and Methods: Fifty-two eyes of 52 healthy, right...
Eye Injuries from Pencil Lead: Three Cases
Corneal stromal and/or penetrating ocular injuries from pencils and pencil lead are more common in childhood and may lead to intraocular infection or severe intraocular sterile inflammatory reaction. Herein we report 3 c...
Konjonktivaşalazis Tedavisinde Elektrokoagülatif Yöntem ve Geleneksel Tıbbi Damlaların Karşılaştırılması: Kısa Dönem Sonuçlar
Amaç: Konjonktivaşalazis tedavisinde elektrokoagülatif yöntem ve geleneksel tıbbi damlaların etkinliğini ön segment-optik koherens tomografi (ÖS-OKT) ile karşılaştırmaktır. Gereç ve Yöntem: Prospektif olarak planlanan bu...
Toxocara Neuroretinitis Associated with Raw Meat Consumption
Neuroretinitis characterized by optic disc edema and star-like exudates in the macula was detected in a patient who presented with sudden unilateral painless vision loss and had a history of raw meat consumption. The pat...