ArticleMolecular vision2013
Development of novel LOXL1 genotyping method and evaluation of LOXL1, APOE and MTHFR polymorphisms in exfoliation syndrome/glaucoma in a Greek population.
Article in Molecular vision, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 4 of them syntheses that pooled it.
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Who cites it
15 citing papers in PubMed, 4 syntheses or guidelines pooled it, 23 citations in OpenAlex.
- LOXL1 gene polymorphisms are associated with exfoliation syndrome/exfoliation glaucoma risk: An updated meta-analysis.PloS one · 2021Pooled it
- Apolipoprotein E gene ε4ε4 is associated with elevated risk of primary open angle glaucoma in Asians: a meta-analysis.BMC medical genetics · 2014Pooled it
- The polymorphism of methylenetetrahydrofolate reductase C677T but not A1298C contributes to gastric cancer.Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine · 2014Pooled it
- Role of the APOE ε2/ε3/ε4 polymorphism in the development of primary open-angle glaucoma: evidence from a comprehensive meta-analysis.PloS one · 2013Pooled it
- Article
- Association of APOE Haplotypes With Common Age-Related Ocular Diseases in 412,171 Individuals.Investigative ophthalmology & visual science · 2023Article
- Association of MTHFR C677T polymorphism with primary open angle glaucoma: a Meta-analysis based on 18 case-control studies.International journal of ophthalmology · 2021Article
- Is pseudoexfoliation glaucoma a neurodegenerative disorder?Journal of biosciences · 2021Review
- The Long Noncoding RNA LOXL1-AS1 Promotes the Proliferation, Migration, and Invasion in Hepatocellular Carcinoma.Analytical cellular pathology (Amsterdam) · 2020Article
- Multiple Gene Polymorphisms Associated with Exfoliation Syndrome in the Uygur Population.Journal of ophthalmology · 2019Article
- Association of the methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism with primary glaucoma in Saudi population.BMC ophthalmology · 2016Article
- LOXL1 gene variants and their association with pseudoexfoliation glaucoma (XFG) in Spanish patients.BMC medical genetics · 2015Article
- Association of LOXL1 polymorphisms with pseudoexfoliation, glaucoma, intraocular pressure, and systemic diseases in a Greek population. The Thessaloniki eye study.Investigative ophthalmology & visual science · 2014Article
- Genetics of exfoliation syndrome and glaucoma.International ophthalmology clinics · 2014Review
- Article
Corrections and comments
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Authors and funding
12 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeIn the Greek population of Epirus, exfoliation syndrome (XFS) and exfoliation glaucoma (XFG) occur at a high prevalence. In this study, we validate a novel lysyl oxidase-like 1 (LOXL1) genotyping method, investigate the previously reported association of LOXL1 with XFS/XFG, and evaluate apolipoprotein E (APOE) and methylenetetrahydrofolate reductase (MTHFR) polymorphisms as genetic risk factors for both conditions in our population.
methodsBlood samples were collected from 82 patients with XFG, 69 patients with XFS, 52 patients with primary open-angle glaucoma (POAG), and 107 controls. APOE and MTHFR 677C>T genotyping was performed from extracted genomic DNA with established methods. A novel methodology of real-time PCR and melting curve analysis was developed and validated to accurately genotype the LOXL1 G153D and R141L polymorphisms by using two different fluorescent channels of the LightCycler instrument (Roche) examining each SNP separately.
resultsNo significant differences were observed for the APOE and MTHFR polymorphisms between the patients with XFS, the patients with XFG, and the control subjects. The APOE ε2 allele appears to be associated with elevated risk of POAG in our population. Our novel LOXL1 genotyping method was easy to perform, fast, and accurate. A statistically significant association was found for the LOXL1 gene with XFS/XFG in this Greek population. The association of XFS and XFG with G153D appeared to be less powerful in this population (XFS: odds ratio [OR]=2.162, p=0.039, XFG: OR=2.794, p=0.002) compared to other populations, and for R141L, the association was proven only with XFG (OR=3.592, p<0.001). Neither of the two LOXL1 SNPs was significantly associated with POAG.
conclusionsWe confirmed the association between LOXL1 and XFS/XFG, but the APOE and MTHFR polymorphisms are not significant risk factors for the development of XFS/XFG in our population of patients from Epirus (Greece).
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23687437PMC3654845W183460740What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.