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 104
- Downloads 0
Factors Affecting Contrast Sensitivity in Healthy Individuals: A Pilot Study
Objectives: To determine the demographic and ocular features affecting contrast sensitivity levels in healthy individuals. Materials and Methods: Seventy-four eyes of 37 subjects (7-65 years old) with refractive errors l...
Pseudoexfoliation Syndrome and Antidepressant Drug Use
Objectives: To investigate the relationship between pseudoexfoliation syndrome (PES) and the use of antidepressant medications. Materials and Methods: This population-based, cross-sectional study included 2,017 of 2,356...
Evaluation of the Effect of Body Position on Intraocular Pressure Measured with Rebound Tonometer
Objectives: It is important to determine variables that influence intraocular pressure (IOP) measurement. This study aimed to evaluate the effect of body position on IOP. Materials and Methods: The study included 52 righ...
Von Hippel-Lindau Hastalığı: Retinal Hemanjiyoblastomların Tanıdaki Önemi
Von Hippel-Lindau (VHL) hastalığı birden fazla sistemi ilgilendiren selim veya habis tümörlerle karakterize ailesel kanser sendromudur. Retinal hemanjiyoblastomlar genellikle hastalığın ilk bulgusu olup görme kaybına ned...
Altı Yaşında Bir Olguda Optik Pit Makülopatisinin Spontan Regresyonu
Altı yaşında erkek hasta 2 aydır olan bulanık görme şikayeti ile başvurdu. Görme keskinliği sağda 20/32, solda 20/20 idi. Maküla optik koherens tomografi (OKT) görüntülerinde optik pit ilişkili makülopati saptandı. Altı...