Abstract:
BACKGROUND:Glaucoma is considered as a neurodegenerative disorder in which the optic nerve damage leads to irreversible blindness. Many scientific findings indicate miRNA implication in the neurodegeneration process. In this study, we aimed to evaluate the polymorphic variants of miRNA processing genes, RAN (rs14035) and GEMIN3 (rs197388), and their association with a risk of primary open-angle glaucoma (POAG) in relation to selected clinical parameters. MATERIALS AND METHODS:The study included 246 POAG patients and 188 controls. The selected gene polymorphisms were analyzed by TaqMan SNP Genotyping Assay using DNA extracted from blood samples. RESULTS:The obtained results indicated that the AA genotype of rs197388 as well as the A allele in the same gene may be associated with an elevated risk of POAG development (P = 0.021, P = 0.017 respectively). The correlation between the data and clinical parameters has shown that the A allele of rs197388 in relation to retinal nerve fiber layer(RNFL) could be responsible for an increased risk of glaucoma occurrence (P = 0.028), while the AT genotype could be associated with a decreased risk of POAG according to the mean deviation parameter (P = 0.023). CONCLUSION:Our data has shown that GEMIN3 gene (rs197388) polymorphisms might be associated with a risk of POAG development in the Polish population. This is the first report evaluating the polymorphic variants of miRNA processing genes, RAN and GEMIN3, with a changed risk of glaucoma.
journal_name
Ophthalmic Genetjournal_title
Ophthalmic geneticsauthors
Molasy M,Walczak A,Przybyłowska-Sygut K,Zaleska-Żmijewska A,Szaflik J,Szaflik JP,Majsterek Idoi
10.1080/13816810.2017.1381978subject
Has Abstractpub_date
2018-04-01 00:00:00pages
180-188issue
2eissn
1381-6810issn
1744-5094journal_volume
39pub_type
杂志文章abstract::Patients with a deletion at the terminal end of chromosome 6p can present with a variety of ophthalmological and systemic malformations. In this paper we present two patients with this chromosomal anomaly and similar anterior eye-segment abnormalities. We also give an overview of the literature on the ophthalmological...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.3109/13816810.2015.1010735
更新日期:2015-06-01 00:00:00
abstract::When encountering patients with markedly dilated and tortuous retinal vessels, Wyburn-Mason syndrome (WMS) or racemous angiomatosis (phacomatosis) is commonly thought of as the archetypal entity that can produce these findings. We describe a patient with Cantu syndrome with phenotypical findings identical to those see...
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doi:10.1080/13816810.2019.1666415
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pub_type: 杂志文章
doi:10.1080/13816810.2019.1582068
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abstract:PURPOSE:To present a boy with unilateral duplication of the eye. METHOD:The case history is described from the first visit at birth to the age of 14 years. RESULTS:A review of the literature shows that this malformation is compatible with life although malformations of the brain and epilepsy have been reported in all...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1080/13816810701209479
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pub_type: 杂志文章
doi:10.1080/13816810.2019.1660381
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doi:10.1080/13816810.2020.1766086
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journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.3109/13816810.2012.755552
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journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.3109/13816810.2010.512354
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journal_title:Ophthalmic genetics
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doi:10.1080/13816810.2020.1747090
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journal_title:Ophthalmic genetics
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journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1076/opge.22.3.187.2221
更新日期:2001-09-01 00:00:00
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journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.3109/13816819509059970
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journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1080/13816810.2019.1666882
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journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.3109/13816810.2015.1130154
更新日期:2016-09-01 00:00:00
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journal_title:Ophthalmic genetics
pub_type: 信件
doi:10.1080/13816810500481907
更新日期:2006-03-01 00:00:00
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journal_title:Ophthalmic genetics
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doi:10.3109/13816819709057126
更新日期:1997-09-01 00:00:00
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journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.3109/13816810.2012.746377
更新日期:2013-09-01 00:00:00
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journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1080/13816810701663535
更新日期:2008-03-01 00:00:00
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更新日期:2020-06-01 00:00:00
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journal_title:Ophthalmic genetics
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doi:10.3109/13816819709041434
更新日期:1997-12-01 00:00:00
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journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1080/13816810590968014
更新日期:2005-06-01 00:00:00
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journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1080/13816810500229025
更新日期:2005-09-01 00:00:00
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journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1080/13816810.2019.1666414
更新日期:2019-08-01 00:00:00
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journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.3109/13816819409056908
更新日期:1994-03-01 00:00:00
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journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1080/13816810802027101
更新日期:2008-06-01 00:00:00
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journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1076/opge.19.3.149.2186
更新日期:1998-09-01 00:00:00
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journal_title:Ophthalmic genetics
pub_type: 杂志文章
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更新日期:2020-08-01 00:00:00
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journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.3109/13816810.2010.482555
更新日期:2010-09-01 00:00:00