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 94
- Downloads 0
Bilateral Serous Macular Detachment After Attempted Suicide with Pregabalin
A 24-year-old female presented with bilateral vision loss following attempted suicide with pregabalin. Her best-corrected visual acuity (BCVA) was 20/40 in the right eye and 20/50 in the left eye. The bilateral visual di...
Optik Koherens Tomografideki Tüm Retinal Sinir Lifi Tabakası Defektleri Glokomatöz müdür?
Amaç: Bu çalışmada optik koherens tomografide (OKT) retina sinir lifi tabakası (RSLT) hasarı nedeniyle glokom ön tanısı konulup kliniğimize gönderilen hastaları inceledik. Ancak bu hastalar ayrıntılı muayene sonrası non-...
Evaluation of Corneal Biomechanical Changes After Collagen Crosslinking in Patients with Progressive Keratoconus by Ocular Response Analyzer
Objectives: To evaluate corneal biomechanics before and after collagen crosslinking (CXL) in patients with progressive keratoconus. Materials and Methods: In this prospective study, CXL was performed under topical anest...
Short- and Long-term Results of Glaucoma Valve Implantation for Aniridia-related Glaucoma: A Case Series and Literature Review
Objectives: To report the results obtained from glaucoma drainage device (GDD) implantation in patients with aniridia-related glaucoma and to review the literature. Materials and Methods: We retrospectively reviewed 6 pa...
Limbal Kök Hücre Yetmezliği ve Tedavisinde Kök Hücre Nakli
Görme fonksiyonunun iyi olabilmesinin ilk koşulu, korneanın saydam olmasıdır. Korneanın saydam olabilmesi için ise diferansiyasyonunu tamamlamış yüzeyel hücrelerin dökülmesi ile sürekli yenilenen epitel tabakasının düzen...