RGD Reference Report - Genetic polymorphisms associated with retinal vein occlusion: a Greek case-control study and meta-analysis. - Rat Genome Database

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Genetic polymorphisms associated with retinal vein occlusion: a Greek case-control study and meta-analysis.

Authors: Yioti, GG  Panagiotou, OA  Vartholomatos, GA  Kolaitis, NI  Pappa, CN  Evangelou, E  Stefaniotou, MI 
Citation: Yioti GG, etal., Ophthalmic Genet. 2013 Sep;34(3):130-9. doi: 10.3109/13816810.2012.746376. Epub 2013 Jan 4.
RGD ID: 10449405
Pubmed: (View Article at PubMed) PMID:23289804
DOI: Full-text: DOI:10.3109/13816810.2012.746376

BACKGROUND: 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. MATERIALS AND METHODS: A total of 48 RVO patients and 53 controls were genotyped for factor V H1299R and V Leiden, beta-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. RESULTS: 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. CONCLUSIONS: 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.


Disease Annotations    

Objects Annotated

Genes (Rattus norvegicus)
Mthfr  (methylenetetrahydrofolate reductase)

Genes (Mus musculus)
Mthfr  (methylenetetrahydrofolate reductase)

Genes (Homo sapiens)
MTHFR  (methylenetetrahydrofolate reductase)

Additional Information