Abstract:
BACKGROUND:Age-related macular degeneration is the leading cause of blindness in elderly individuals in developed countries. The etiology and pathophysiology of age-related macular degeneration have not been elucidated yet. Knowing that the main pathological change of age-related macular degeneration is formation of drusen containing about 40% of lipids, there have been attempts to find associations between age-related macular degeneration and genes controlling lipid metabolism. PURPOSE:To determine the frequency of CYP2C19 (G681A) Rs4244285 and CYP1A2 (-163C>A) Rs762551 genotypes in patients with age-related macular degeneration. METHODS:The study enrolled 150 patients with early age-related macular degeneration and 296 age- and gender-matched healthy controls. The genotyping of Rs4244285 and Rs762551 was carried out by using the real-time polymerase chain reaction method. RESULTS:The CYP1A2 (-163C>A) Rs762551 C/C genotype was more frequently detected in patients with age-related macular degeneration than in the control group (32.7% vs. 21.6%, p = 0.011) and was associated with an increased risk of developing early age-related macular degeneration (OR = 1.759, 95% CI: 1.133-2.729; p = 0.012). The CYP1A2 (-163C>A) Rs762551 C/A genotype was more frequently documented in the control group compared with patients with age-related macular degeneration (46.3% vs. 30.7%, p = 0.002) and was associated with a decreased risk of having age-related macular degeneration (OR = 0.580. 95% CI: 0.362-0.929, p = 0.023) in the co-dominant model. CONCLUSION:The study showed that the CYP1A2 (-163C>A) Rs762551 C/C genotype was associated with an increased risk of age-related macular degeneration.
journal_name
Ophthalmic Genetjournal_title
Ophthalmic geneticsauthors
Stasiukonyte N,Liutkeviciene R,Vilkeviciute A,Banevicius M,Kriauciuniene Ldoi
10.1080/13816810.2016.1242018subject
Has Abstractpub_date
2017-07-01 00:00:00pages
357-364issue
4eissn
1381-6810issn
1744-5094journal_volume
38pub_type
杂志文章abstract:PURPOSE:To report two memorable clinical comorbid cases of Williams-Beuren syndrome (WBS) associated with keratoconus (KC). WBS is known to be an abnormal systemic development caused by a microdeletion of contiguous genes in chromosome 7q11.23, which includes the elastin gene. KC is currently suspected to have a geneti...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.3109/13816810.2010.523038
更新日期:2010-12-01 00:00:00
abstract:BACKGROUND:Age-related cataract (ARC) is profoundly associated with oxidative stress. Iron plays a pivotal role in generating oxidative stress and promoting deleterious irreversible damage to the macromolecules. Divalent metal transporter 1 (DMT1) mediates the uptake of iron into the cell. Aberrant transcript expressio...
journal_title:Ophthalmic genetics
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doi:10.1080/13816810.2019.1582068
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abstract::Background: The present study aims to identify the underlying genetic defects in a Chinese family with autosomal dominant congenital cataracts (ADCC). Methods: Detailed family histories and clinical data were recorded. Targeted exome sequencing of 54 known cataract-associated genes combined with high-throughput next-g...
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journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.3109/13816819709041434
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journal_title:Ophthalmic genetics
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doi:10.3109/13816810.2011.592176
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abstract:OBJECTIVES:Williams-Beuren Syndrome (WBS) is a multisystem disorder caused by the deletion of contiguous genes on chromosome 7q11.23. Ophthalmologic abnormalities and deficits in visual motor integration are important features of WBS. Here we describe our experience with Brazilian WBS patients and their ophthalmologic ...
journal_title:Ophthalmic genetics
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doi:10.3109/13816810.2013.873941
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abstract::We present six patients with typical Hallermann-Streiff syndrome. All have microphthalmia and were operated for congenital cataract. Three of the patients developed a severe glaucoma and one patient presented repeated uveal effusions. Five of our patients have the same pattern of corneal stromal opacities. The opaciti...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1080/13816810802027101
更新日期:2008-06-01 00:00:00
abstract::DNA samples are the fundamental research substrate in genetics. Although methodology and cost-effectiveness in molecular biology have improved dramatically, collecting biological samples and extracting DNA continue to be expensive and time-consuming steps of genetic research. This article reviews the issues surroundin...
journal_title:Ophthalmic genetics
pub_type: 杂志文章,评审
doi:10.1076/opge.22.1.49.2240
更新日期:2001-03-01 00:00:00
abstract::Background: Retinitis punctate albescens (RPA) is a rare form of retinal dystrophy characterized by congenital stationary night blindness and a characteristic fundus appearance. Missense or nonsense mutations in RDH5 in homozygous or heterozygous state have been implicated in RPA.Material and methods: Two consanguineo...
journal_title:Ophthalmic genetics
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doi:10.1080/13816810.2019.1709124
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abstract::Mutations in the peripherin/RDS gene have been identified in families with various retinopathies including those affecting primarily the macula and those restricted to the retinal periphery. Here, we describe the clinical findings of two sisters with late-onset central areolar choroidal dystrophy (CACD). The two sibli...
journal_title:Ophthalmic genetics
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doi:10.1080/13816810600976822
更新日期:2006-12-01 00:00:00
abstract::Angioid streaks were observed in two patients with abetalipoproteinemia. The progression of the angioid streaks was minimal over the years that these patients received vitamin A and E supplementation, though in one patient the development of subretinal neovascular membranes within the angioid streaks was the cause of ...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.3109/13816819409057843
更新日期:1994-09-01 00:00:00
abstract::The electro-oculogram (EOG) was studied in 156 normal patients, 103 patients with Best's disease, and 52 patients with dominant cystoid macular dystrophy (DCMD). Statistical analysis was performed by comparing the distribution of Lp/Dt ratios of the groups. Strength of association between Lp/Dt ratio and age was studi...
journal_title:Ophthalmic genetics
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doi:10.3109/13816819609057112
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journal_title:Ophthalmic genetics
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journal_title:Ophthalmic genetics
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doi:10.1080/13816810802452168
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doi:10.3109/13816810.2014.907920
更新日期:2016-01-01 00:00:00
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journal_title:Ophthalmic genetics
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doi:10.1080/13816810.2020.1747090
更新日期:2020-10-01 00:00:00
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journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1080/13816810.2019.1666415
更新日期:2019-10-01 00:00:00
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journal_title:Ophthalmic genetics
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doi:10.3109/13816810.2012.716489
更新日期:2012-12-01 00:00:00
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journal_title:Ophthalmic genetics
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journal_title:Ophthalmic genetics
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journal_title:Ophthalmic genetics
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更新日期:2013-03-01 00:00:00
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journal_title:Ophthalmic genetics
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journal_title:Ophthalmic genetics
pub_type: 杂志文章
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更新日期:2007-12-01 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:2006-06-01 00:00:00
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journal_title:Ophthalmic genetics
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journal_title:Ophthalmic genetics
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更新日期:2016-12-01 00:00:00
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journal_title:Ophthalmic genetics
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