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,...

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Autores principales:	Panoutsopoulos AA, Gartaganis VS, Giannakopoulos MP, Goumas PD, Anastassiou ED, Gartaganis SP
Formato:	article
Lenguaje:	EN
Publicado:	Dove Medical Press 2016
Materias:	exfoliation syndrome XFS PEX syndrome Single Nucleotide Polymorphisms SNP Ophthalmology RE1-994
Acceso en línea:	https://doaj.org/article/5faf99f4d424481cb739dd7d0e3873e6
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spelling	oai:doaj.org-article:5faf99f4d424481cb739dd7d0e3873e62021-12-02T00:42:39ZLysyl oxidase-like 1 polymorphisms in a southwestern Greek cataract population with pseudoexfoliation syndrome1177-5483https://doaj.org/article/5faf99f4d424481cb739dd7d0e3873e62016-01-01T00:00:00Zhttps://www.dovepress.com/lysyl-oxidase-like-1-polymorphisms-in-a-southwestern-greek-cataract-po-peer-reviewed-article-OPTHhttps://doaj.org/toc/1177-5483Alexios 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 polymorphismsPanoutsopoulos AAGartaganis VSGiannakopoulos MPGoumas PDAnastassiou EDGartaganis SPDove Medical Pressarticleexfoliation syndromeXFSPEX syndromeSingle Nucleotide PolymorphismsSNPOphthalmologyRE1-994ENClinical Ophthalmology, Vol 2016, Iss Issue 1, Pp 161-166 (2016)
institution	DOAJ
collection	DOAJ
language	EN
topic	exfoliation syndrome XFS PEX syndrome Single Nucleotide Polymorphisms SNP Ophthalmology RE1-994
spellingShingle	exfoliation syndrome XFS PEX syndrome Single Nucleotide Polymorphisms SNP Ophthalmology RE1-994 Panoutsopoulos AA Gartaganis VS Giannakopoulos MP Goumas PD Anastassiou ED Gartaganis SP Lysyl oxidase-like 1 polymorphisms in a southwestern Greek cataract population with pseudoexfoliation syndrome
description	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
format	article
author	Panoutsopoulos AA Gartaganis VS Giannakopoulos MP Goumas PD Anastassiou ED Gartaganis SP
author_facet	Panoutsopoulos AA Gartaganis VS Giannakopoulos MP Goumas PD Anastassiou ED Gartaganis SP
author_sort	Panoutsopoulos AA
title	Lysyl oxidase-like 1 polymorphisms in a southwestern Greek cataract population with pseudoexfoliation syndrome
title_short	Lysyl oxidase-like 1 polymorphisms in a southwestern Greek cataract population with pseudoexfoliation syndrome
title_full	Lysyl oxidase-like 1 polymorphisms in a southwestern Greek cataract population with pseudoexfoliation syndrome
title_fullStr	Lysyl oxidase-like 1 polymorphisms in a southwestern Greek cataract population with pseudoexfoliation syndrome
title_full_unstemmed	Lysyl oxidase-like 1 polymorphisms in a southwestern Greek cataract population with pseudoexfoliation syndrome
title_sort	lysyl oxidase-like 1 polymorphisms in a southwestern greek cataract population with pseudoexfoliation syndrome
publisher	Dove Medical Press
publishDate	2016
url	https://doaj.org/article/5faf99f4d424481cb739dd7d0e3873e6
work_keys_str_mv	AT panoutsopoulosaa lysyloxidaselike1polymorphismsinasouthwesterngreekcataractpopulationwithpseudoexfoliationsyndrome AT gartaganisvs lysyloxidaselike1polymorphismsinasouthwesterngreekcataractpopulationwithpseudoexfoliationsyndrome AT giannakopoulosmp lysyloxidaselike1polymorphismsinasouthwesterngreekcataractpopulationwithpseudoexfoliationsyndrome AT goumaspd lysyloxidaselike1polymorphismsinasouthwesterngreekcataractpopulationwithpseudoexfoliationsyndrome AT anastassioued lysyloxidaselike1polymorphismsinasouthwesterngreekcataractpopulationwithpseudoexfoliationsyndrome AT gartaganissp lysyloxidaselike1polymorphismsinasouthwesterngreekcataractpopulationwithpseudoexfoliationsyndrome
_version_	1718403498757849088

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

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