@article {37958,
	title = {Correlation of the intronic LOXL1 polymorphism rs11638944 with pseudoexfoliation syndrome and glaucoma in a Greek population},
	journal = {Ophthalmic Genet.},
	volume = {42},
	year = {2021},
	note = {IS - 1744-5094 (Electronic)
IS - 1381-6810 (Linking)
LA - eng
PT - Journal Article
RN - EC 1.4.- (Amino Acid Oxidoreductases)
RN - EC 1.4.3.- (LOXL1 protein, human)
SB - IM},
	month = {2021/08//},
	pages = {405 - 411},
	abstract = {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 degrees C for C allele, Tm = 61.83 degrees C for G allele, DeltaTm = 8.57 degrees 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},
	keywords = {Aged, Aged,80 and over, Amino Acid Oxidoreductases, Epidemiology, Exfoliation Syndrome, Female, genetics, Genotyping Techniques, Glaucoma,Open-Angle, Greece, Humans, Intraocular Pressure, Introns, Male, Middle Aged, physiology, physiopathology, Polymorphism,Restriction Fragment Length, Polymorphism,Single Nucleotide, Real-Time Polymerase Chain Reaction, Slit Lamp Microscopy, Tonometry,Ocular, Visual Acuity},
	url = {PM:33792495},
	author = {Papadopoulou,M.K. and Chatziralli, I and Tzika,K. and Chiras,D. and Kitsos,G. and Kroupis, C.}
}
