Correlation of the intronic LOXL1 polymorphism rs11638944 with pseudoexfoliation syndrome and glaucoma in a Greek population.

Autor: Papadopoulou MK; Department of Clinical Biochemistry and Molecular Diagnostics, Attikon General University Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece., Chatziralli I; 2nd Department of Ophthalmology, Attikon General University Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece., Tzika K; Department of Clinical Biochemistry and Molecular Diagnostics, Attikon General University Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece., Chiras D; Department of Ophthalmology, University Hospital of Ioannina, Ioannina, Greece., Kitsos G; Department of Ophthalmology, University Hospital of Ioannina, Ioannina, Greece., Kroupis C; Department of Clinical Biochemistry and Molecular Diagnostics, Attikon General University Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece.
Jazyk: angličtina
Zdroj: Ophthalmic genetics [Ophthalmic Genet] 2021 Aug; Vol. 42 (4), pp. 405-411. Date of Electronic Publication: 2021 Apr 01.
DOI: 10.1080/13816810.2021.1904420
Abstrakt: 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.
Databáze: MEDLINE
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