Genetic Polymorphisms Associated with Retinal Vein Occlusion: A Greek Case-control Study and Meta-analysis
| Autor: | Georgios Vartholomatos, Maria Stefaniotou, Georgia G. Yioti, Orestis A. Panagiotou, Nikolaos I. Kolaitis, Evangelos Evangelou, Chrisavgi Pappa |
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| Rok vydání: | 2013 |
| Předmět: |
Male
medicine.medical_specialty Genotype Peptidyl-Dipeptidase A Thrombophilia Gastroenterology Internal medicine Plasminogen Activator Inhibitor 1 Retinal Vein Occlusion Genetic model Odds Ratio medicine Humans Allele Risk factor Alleles Methylenetetrahydrofolate Reductase (NADPH2) Genetics (clinical) Aged Genetics Polymorphism Genetic Greece biology business.industry Factor V Case-control study Odds ratio Middle Aged medicine.disease Ophthalmology Case-Control Studies Pediatrics Perinatology and Child Health biology.protein Prothrombin G20210A Female business Biomarkers |
| Zdroj: | Ophthalmic Genetics. 34:130-139 |
| ISSN: | 1744-5094 1381-6810 |
| DOI: | 10.3109/13816810.2012.746376 |
| Popis: | The genetic background of retinal vein occlusion (RVO) remains unclear. In the current study, we aimed to replicate polymorphisms related to thrombophilia/hypofibrinolysis in a Greek population and also systematically summarize current evidence available on the topic.A total of 48 RVO patients and 53 controls were genotyped for factor V H1299R and V Leiden, β-fibrinogen G455A, PAI-1 4G/5G, ACE I/D, HPA1, prothrombin G20210A, factor XIII Val34Leu, MTHFR A1298C and C677T polymorphisms. We examined the association between RVO and the above polymorphisms under a per-allele genetic model in a Greek unrelated case/control population. Additionally, searching PubMed up to January 2012, we identified existing evidence on these polymorphisms and performed meta-analyses.A total of three polymorphisms had nominally significant associations with RVO. These associations pertained to ACE D allele (odds ratio, OR, 2.08 [95% CI, 1.12-3.85], p = 0.02); factor XIII 34Leu allele (OR = 0.41 [95% CI, 0.18-0.95], p = 0.037] and MTHFR 677T variant (OR = 2.20 [95% CI 1.10-4.40], p = 0.026). We performed a meta-analysis on the associations between RVO and PAI-1 (n = 5), factor V Leiden (n = 21), MTHFR C677T (n = 19) and prothrombin G20210A (n = 21). We observed nominally significant associations only for PAI-1 (OR = 1.27 [95% CI, 1.02-1.60, p = 0.036]) (I(2) = 44.7%), and factor V Leiden (OR = 1.40 [95% CI, 1.07-1.84, p = 0.015]) (I(2) = 3.6%) using random effects model.Our results suggest that there may be an association between increased risk for RVO and ACE I/D, MTHFR C677T, PAI-1 4G/5G and factor V Leiden polymorphisms, whereas the Val34Leu variant may exert a protective effect. |
| Databáze: | OpenAIRE |
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