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...
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| Format: | Article |
| Language: | English |
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Tehran University of Medical Sciences
2019-10-01
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| Series: | Iranian Journal of Public Health |
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| Online Access: | https://ijph.tums.ac.ir/index.php/ijph/article/view/18540 |
| _version_ | 1819240755499106304 |
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| author | Elham TAGHAVI Ramin DANESHVAR Zahra NOORMOHAMMADI Seyed Mohammad-Hossein MODARRESI Mohammad Reza SEDAGHAT |
| author_facet | Elham TAGHAVI Ramin DANESHVAR Zahra NOORMOHAMMADI Seyed Mohammad-Hossein MODARRESI Mohammad Reza SEDAGHAT |
| author_sort | Elham TAGHAVI |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-12-23T14:13:03Z |
| format | Article |
| id | doaj.art-852a0030c6284d10b8f06670cf8b6639 |
| institution | Directory Open Access Journal |
| issn | 2251-6085 2251-6093 |
| language | English |
| last_indexed | 2024-12-23T14:13:03Z |
| publishDate | 2019-10-01 |
| publisher | Tehran University of Medical Sciences |
| record_format | Article |
| series | Iranian Journal of Public Health |
| spelling | doaj.art-852a0030c6284d10b8f06670cf8b66392022-12-21T17:43:59ZengTehran University of Medical SciencesIranian Journal of Public Health2251-60852251-60932019-10-01481010.18502/ijph.v48i10.3490Association of LOXL1 Gene Polymorphisms with Exfoliation Glaucoma PatientsElham TAGHAVI0Ramin DANESHVAR1Zahra NOORMOHAMMADI2Seyed Mohammad-Hossein MODARRESI3Mohammad Reza SEDAGHAT4Department of Biology, Science and Research Branch, Islamic Azad University, Tehran, IranEye Research Center, Mashhad University of Medical Sciences, Mashhad, Iran AND Genetic Research Center, Mashhad University of Medical Sciences, Mashhad, IranDepartment of Biology, Science and Research Branch, Islamic Azad University, Tehran, IranDepartment of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, IranEye Research Center, Mashhad University of Medical Sciences, Mashhad, IranBackground: 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.https://ijph.tums.ac.ir/index.php/ijph/article/view/18540Pseudoexfoliation syndromeLOXL1 mRNA expressionVariantsGlaucoma |
| spellingShingle | Elham TAGHAVI Ramin DANESHVAR Zahra NOORMOHAMMADI Seyed Mohammad-Hossein MODARRESI Mohammad Reza SEDAGHAT Association of LOXL1 Gene Polymorphisms with Exfoliation Glaucoma Patients Iranian Journal of Public Health Pseudoexfoliation syndrome LOXL1 mRNA expression Variants Glaucoma |
| 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 | Pseudoexfoliation syndrome LOXL1 mRNA expression Variants Glaucoma |
| url | https://ijph.tums.ac.ir/index.php/ijph/article/view/18540 |
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