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Association of LOXL1 Gene Polymorphisms with Exfoliation Glaucoma Patients
BACKGROUND: Pseudoexfoliation syndrome (XFS) is pathogenetically related to exfoliative glaucoma (XFG), which is the most common type of secondary glaucoma. We aimed to investigate the relationship between LOXL1 SNPs (rs1048661, rs3825942) and XFS and/or XFG in a cohort of Iranian subjects. METHODS:...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Tehran University of Medical Sciences
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6908905/ https://www.ncbi.nlm.nih.gov/pubmed/31850260 |
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author | TAGHAVI, Elham DANESHVAR, Ramin NOORMOHAMMADI, Zahra MODARRESI, Seyed Mohammad-Hossein SEDAGHAT, Mohammad Reza |
author_facet | TAGHAVI, Elham DANESHVAR, Ramin NOORMOHAMMADI, Zahra MODARRESI, Seyed Mohammad-Hossein SEDAGHAT, Mohammad Reza |
author_sort | TAGHAVI, Elham |
collection | PubMed |
description | BACKGROUND: Pseudoexfoliation syndrome (XFS) is pathogenetically related to exfoliative glaucoma (XFG), which is the most common type of secondary glaucoma. We aimed to investigate the relationship between LOXL1 SNPs (rs1048661, rs3825942) and XFS and/or XFG in a cohort of Iranian subjects. METHODS: This cross-sectional study investigated possible association between LOXL1 gene polymorphisms and exfoliative glaucoma in Northeastern part of Iran between May 2014 and May 2015. Sixty unrelated XFS/XFG patients, as well as 40 control subjects, were studied by direct sequencing. In fifteen senile cataract patients without glaucoma and fifteen patients with coexisting XFG and cataract, capsulorhexis specimen of the anterior lens capsule was used to evaluate LOXL1 gene transcripts by Real-Time PCR technique. We analyzed the results for allele frequencies and haplotype association and investigated the relative gene expression. RESULTS: Significant associations between the rs382594 SNP and XFG and between rs1048661 SNP and XFG were observed (P<0.05 for both). The frequency of the G allele in the exonic SNP (rs1048661) appeared to be higher in XFS or XFG patients compared to control subjects (P= 0.0497). Moreover, in the rs3825942 SNP, the G allele was more frequent in XFS/XFG patients compared to control subjects (P=0.0016). The highest cumulative frequency was for the GG haplotype. GG haplotype was associated with increased risk of XFG compared to the rs1048661 G/T and rs3825942 G/A haplotypes. LOXL1 mRNA expression was not statistically significantly different between XFS/XFG and control subjects. CONCLUSION: We reported the LOXL1 gene polymorphism in an Iranian XFS/XFG cohort. Similar to many other ethnic groups and geographic regions, our results confirmed an association between LOXL1 gene variants and XFG in Iran. |
format | Online Article Text |
id | pubmed-6908905 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | Tehran University of Medical Sciences |
record_format | MEDLINE/PubMed |
spelling | pubmed-69089052019-12-17 Association of LOXL1 Gene Polymorphisms with Exfoliation Glaucoma Patients TAGHAVI, Elham DANESHVAR, Ramin NOORMOHAMMADI, Zahra MODARRESI, Seyed Mohammad-Hossein SEDAGHAT, Mohammad Reza Iran J Public Health Original Article BACKGROUND: Pseudoexfoliation syndrome (XFS) is pathogenetically related to exfoliative glaucoma (XFG), which is the most common type of secondary glaucoma. We aimed to investigate the relationship between LOXL1 SNPs (rs1048661, rs3825942) and XFS and/or XFG in a cohort of Iranian subjects. METHODS: This cross-sectional study investigated possible association between LOXL1 gene polymorphisms and exfoliative glaucoma in Northeastern part of Iran between May 2014 and May 2015. Sixty unrelated XFS/XFG patients, as well as 40 control subjects, were studied by direct sequencing. In fifteen senile cataract patients without glaucoma and fifteen patients with coexisting XFG and cataract, capsulorhexis specimen of the anterior lens capsule was used to evaluate LOXL1 gene transcripts by Real-Time PCR technique. We analyzed the results for allele frequencies and haplotype association and investigated the relative gene expression. RESULTS: Significant associations between the rs382594 SNP and XFG and between rs1048661 SNP and XFG were observed (P<0.05 for both). The frequency of the G allele in the exonic SNP (rs1048661) appeared to be higher in XFS or XFG patients compared to control subjects (P= 0.0497). Moreover, in the rs3825942 SNP, the G allele was more frequent in XFS/XFG patients compared to control subjects (P=0.0016). The highest cumulative frequency was for the GG haplotype. GG haplotype was associated with increased risk of XFG compared to the rs1048661 G/T and rs3825942 G/A haplotypes. LOXL1 mRNA expression was not statistically significantly different between XFS/XFG and control subjects. CONCLUSION: We reported the LOXL1 gene polymorphism in an Iranian XFS/XFG cohort. Similar to many other ethnic groups and geographic regions, our results confirmed an association between LOXL1 gene variants and XFG in Iran. Tehran University of Medical Sciences 2019-10 /pmc/articles/PMC6908905/ /pubmed/31850260 Text en Copyright© Iranian Public Health Association & Tehran University of Medical Sciences http://creativecommons.org/licenses/by/3.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Original Article TAGHAVI, Elham DANESHVAR, Ramin NOORMOHAMMADI, Zahra MODARRESI, Seyed Mohammad-Hossein SEDAGHAT, Mohammad Reza Association of LOXL1 Gene Polymorphisms with Exfoliation Glaucoma Patients |
title | Association of LOXL1 Gene Polymorphisms with Exfoliation Glaucoma Patients |
title_full | Association of LOXL1 Gene Polymorphisms with Exfoliation Glaucoma Patients |
title_fullStr | Association of LOXL1 Gene Polymorphisms with Exfoliation Glaucoma Patients |
title_full_unstemmed | Association of LOXL1 Gene Polymorphisms with Exfoliation Glaucoma Patients |
title_short | Association of LOXL1 Gene Polymorphisms with Exfoliation Glaucoma Patients |
title_sort | association of loxl1 gene polymorphisms with exfoliation glaucoma patients |
topic | Original Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6908905/ https://www.ncbi.nlm.nih.gov/pubmed/31850260 |
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