Lysyl oxidase-like 1 polymorphisms in a southwestern Greek cataract population with pseudoexfoliation syndrome

Alexios A Panoutsopoulos,1 Vassiliki S Gartaganis,2 Marios P Giannakopoulos,1 Panos D Goumas,3 Evangelos D Anastassiou,4 Sotirios P Gartaganis1 1Department of Ophthalmology, School of Medicine, University of Patras, Achaia, Greece; 2Protein Chemistry Group, Institute of Molecular Oncology, BSRC “Al Fleming”, Vari, Greece; 3Department of Otolaryngology, Head and Neck Surgery, 4Department of Microbiology, School of Medicine, University of Patras, Achaia, Greece Purpose: The aim of this study was to determine the possible association of rs1048661 and rs3825942 single nucleotide polymorphisms (SNPs) in the lysyl oxidase-like 1 (LOXL1) gene of cataract patients from southwestern Greece with pseudoexfoliation (PEX) syndrome. Patients and methods: Ninety-three patients with PEX syndrome and 74 without PEX syndrome were recruited with the principal diagnosis being cataract. LOXL1 SNPs, rs1048661 and rs3825942, were genotyped by using polymerase chain reaction. Results: The G allele of rs1048661 was found in 96.7% in the PEX group as compared to 80.5% of non-PEX alleles (P=19×10-4; Odds ratio [OR] =5.37; 95% confidence interval [CI] =1.68–17.12). Similarly, the G allele of rs3825942 was found in 72.1% of the PEX group as compared to 41.8% of non-PEX alleles (P=4×10-5; OR =3.78; 95% CI =1.98–7.23). The T and A allele frequencies of rs1048661 and rs3825942, respectively, were underrepresented in the PEX group patients as compared to non-PEX group. Conclusion: Our data confirm previously reported association between LOXL1 polymorphisms and PEX syndrome in a southwestern Greek population. A significant association was found for the G allele of rs1048661 and rs3825942 demonstrating that the GG haplotype is a high-risk factor for the development of PEX syndrome. Keywords: exfoliative syndrome, PEX syndrome, single nucleotide polymorphism

Lack of association of the M129V polymorphism of the PRNP gene with pseudoexfoliation syndrome

Marios P Giannakopoulos,1 Anna G Antonacopoulou,2 Anastasia E Kottorou,2 Haralabos P Kalofonos,2 Sotirios P Gartaganis1 1Department of Ophthalmology, School of Medicine, 2Department of Medicine, Molecular Oncology Laboratory, Division of Oncology, University of Patras, Rion, Greece Purpose: In this study we aimed to evaluate the polymorphism at codon 129 (M129V) of the PRNP gene as a secondary risk factor for pseudoexfoliation syndrome (PEX). Methods: Two hundred and seventy-five unrelated subjects, including 156 patients with PEX and 119 unrelated control subjects, were recruited from the University Hospital of Patras, Greece. All patients and controls were of Caucasian or European ancestry. The PRNP M129V (A/G) single-nucleotide polymorphism was genotyped by real-time polymerase chain reactions. Association of the polymorphism with PEX was assessed using the two-sided Pearson’s chi-squared or Fisher’s exact test.Result: No significant difference between patients and controls was observed in terms of frequencies of alleles and genotypes of the PRNP gene.Conclusion: Polymorphism at M129V of the PRNP gene was evaluated as a secondary risk factor for developing PEX. Our results suggest that this PRNP gene polymorphism is not associated with PEX. Keywords: pseudoexfoliation syndrome, polymorphism, M129V, PEX, protein folding disorder