Document Detail


Hyperhomocysteinemia and C677T MTHFR genotype in patients with retinal vein thrombosis.
MedLine Citation:
PMID:  19825913     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
INTRODUCTION: Elevated homocysteine (Hcy) is associated with the risk of deep vein thrombosis, pulmonary embolism, ischemic heart disease, and stroke. Several studies have suggested that hyperhomocysteinemia (HHcy) may predispose to retinal vein thrombosis (RVT) development. The aim of this study is to investigate the relationship between Hcy, C677T methylenetetrahydrofolate reductase (MTHFR) genotype, and RVT in patients compared with controls.
MATERIALS AND METHODS: We evaluated the Hcy plasma level of 3114 consecutive participants in 2 Italian centers during a 2-year period. Hyperhomocysteinemia was found in 99 patients and 136 healthy participants. Of the 99 patients, 20 had RVT with a high prevalence of HHcy in the RVT subgroup (20.2%). This result suggested a possible relationship between HHcy and RVT development. We investigated 105 consecutive patients with recent diagnosis of RVT, and we compared them with 226 healthy controls to evaluate whether HHcy may be a risk factor for RVT.
RESULTS: the prevalence of HHcy was higher in patients compared with controls (34.3% vs 14.2%; P < .001). The MTHFR C677T genotype was found in 69 of 105 (65.7%) patients with RVT (heterozygosity: 40 of 105 and homozygosity: 29 of 105). The control group showed the presence of MTHFR C677T genotype in 169 of 226 participants (74.8%; heterozygosity: 100 of 226 and homozygosity: 69 of 226) without difference between the 2 groups (P = .08).
CONCLUSION: our study suggests that HHcy is a possible risk factor for RVT development, while no association was found between RVT and the C677T MTHFR genotype.
Authors:
Gianluca Sottilotta; Simona Maria Siboni; Caterina Latella; Vincenzo Oriana; Ermelinda Romeo; Rita Santoro; Dario Consonni; Vincenzo Trapani Lombardo
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Publication Detail:
Type:  Journal Article; Multicenter Study     Date:  2009-10-13
Journal Detail:
Title:  Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis     Volume:  16     ISSN:  1938-2723     ISO Abbreviation:  Clin. Appl. Thromb. Hemost.     Publication Date:  2010 Oct 
Date Detail:
Created Date:  2010-08-20     Completed Date:  2011-01-04     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9508125     Medline TA:  Clin Appl Thromb Hemost     Country:  United States    
Other Details:
Languages:  eng     Pagination:  549-53     Citation Subset:  IM    
Affiliation:
Hemophilia Centre, Hemostasis and Thrombosis Service, Azienda Ospedaliera "Bianchi-Melacrino-Morelli", Reggio Calabria, Italy. gianluca.sottilotta@virgilio.it
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MeSH Terms
Descriptor/Qualifier:
Adult
Aged
Aged, 80 and over
Case-Control Studies
Cohort Studies
Female
Genetic Predisposition to Disease
Genotype
Humans
Hyperhomocysteinemia / blood*,  genetics*
Male
Methylenetetrahydrofolate Reductase (NADPH2) / genetics*
Middle Aged
Polymorphism, Genetic
Retinal Vein Occlusion / blood*,  genetics*
Retrospective Studies
Risk Factors
Young Adult
Chemical
Reg. No./Substance:
EC 1.5.1.20/Methylenetetrahydrofolate Reductase (NADPH2)

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