Lysyl oxidase-like 1 polymorphisms in a southwestern Greek cataract population with pseudoexfoliation syndrome
Authors Panoutsopoulos A, Gartaganis V, Giannakopoulos M, Goumas P, Anastassiou E, Gartaganis S
Received 19 June 2015
Accepted for publication 13 August 2015
Published 21 January 2016 Volume 2016:10 Pages 161—166
Checked for plagiarism Yes
Review by Single-blind
Peer reviewer comments 3
Editor who approved publication: Dr Scott Fraser
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 polymorphisms
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