Τίτλος:
Correlation of the intronic LOXL1 polymorphism rs11638944 with pseudoexfoliation syndrome and glaucoma in a Greek population
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
Background: The purpose of this study is the development and validation of a novel and robust genotyping method for a new lysyl oxidase-like 1 (LOXL1) intronic polymorphism (rs11638944, C > G) and the investigation of its potential association with pseudoexfoliation syndrome (PXS) and pseudoexfoliation glaucoma (PXG) in a Greek population. Material and methods: 242 DNA samples from 49 PXS, 64 PXG, 50 primary open-angle glaucoma (POAG) patients and 79 healthy age-matched controls were analyzed. Novel methodologies were developed and optimized, in order to genotype the intronic LOXL1 polymorphism: a) a real-time qPCR and melting curve analysis in the Light Cycler platform for rapid and cost-effective analysis and, b) a conventional PCR-RFLP method for analysis of a small number of samples. In selected samples, validity was checked with the reference DNA Sequencing method. Results: The real-time qPCR methodology was reliable, demonstrating good efficiency, reproducibility, accuracy in genotyping (100% concordance with the PCR-RFLP method and DNA Sequencing), with good allele discrimination (Tm = 53.26°C for C allele, Tm = 61.83°C for G allele, ΔTm = 8.57°C). The results were characterized by Hardy–Weinberg equilibrium in all groups. An increase from 18% in healthy controls to 61% in PXS patients was detected for the G/G homozygote thus, the C allele is protective for PXS with OR = 0.22 (95%CI: 0.11–0.42, p < .0001). Moreover, an increase from 18% in healthy controls to 70% in PXG patients was detected for the G/G homozygote thus, the C allele is protective for PXG with OR = 0.13 (95%CI: 0.06–0.25, p < .0001). Conclusions: A statistically significant association was verified for the intronic LOXL1 polymorphism rs11638944 and PXS/PXG in a Greek population. © 2021 Taylor & Francis Group, LLC.
Συγγραφείς:
Papadopoulou, M.-K.
Chatziralli, I.
Tzika, K.
Chiras, D.
Kitsos, G.
Kroupis, C.
Περιοδικό:
Ophthalmic Genetics
Εκδότης:
Taylor and Francis Ltd.
Λέξεις-κλειδιά:
genomic DNA; lysyl oxidase like 1; oxidoreductase; unclassified drug; LOXL1 protein, human; oxidoreductase, aged; Article; controlled study; DNA sequencing; female; gene frequency; genetic association; genotype; glaucoma; Greece; haplotype; homozygote; human; major clinical study; male; mRNA expression level; open angle glaucoma; polymerase chain reaction restriction fragment length polymorphism; pseudoexfoliation; pseudoexfoliation glaucoma; pseudoexfoliation syndrome; real time polymerase chain reaction; single nucleotide polymorphism; genetics; genotyping; intraocular pressure; intron; middle aged; oculoplethysmography; open angle glaucoma; pathophysiology; physiology; pseudoexfoliation; restriction fragment length polymorphism; single nucleotide polymorphism; slit lamp microscopy; very elderly; visual acuity, Aged; Aged, 80 and over; Amino Acid Oxidoreductases; Exfoliation Syndrome; Female; Genotyping Techniques; Glaucoma, Open-Angle; Greece; Humans; Intraocular Pressure; Introns; Male; Middle Aged; Polymorphism, Restriction Fragment Length; Polymorphism, Single Nucleotide; Real-Time Polymerase Chain Reaction; Slit Lamp Microscopy; Tonometry, Ocular; Visual Acuity
DOI:
10.1080/13816810.2021.1904420
