Document Detail

Genetic determinants of fasting and post-methionine hyperhomocysteinemia in patients with retinal vein occlusion.
MedLine Citation:
PMID:  12877902     Owner:  NLM     Status:  MEDLINE    
INTRODUCTION: Moderate hyperhomocysteinemia is considered a risk factor for both venous and arterial thrombosis. A prevalence of up to 30% of fasting hyperhomocysteinemia has been recently reported in patients with retinal vein occlusion (RVO) whereas conflicting data exist on the role of C677T polymorphism of the methylenetetrahydrofolate reductase (MTHFR) gene as a risk factor for RVO. No report has been published on cystathionine beta-synthase (CBS) 844ins68 polymorphism (another genetic determinant of blood Hcy levels) in RVO patients. Moreover, scarce information is available on the usefulness of measuring homocysteine also after methionine loading to increase the diagnostic efficacy of hyperhomocysteinemia in RVO patients. MATERIALS AND METHODS: In 55 consecutive patients with diagnosis of RVO and 65 matched controls, plasma fasting total homocysteine (Hcy) levels and CBS and MTHFR polymorphisms were evaluated. In patients with normal fasting Hcy levels, post-methionine Hcy levels were determined. RESULTS: Moderate fasting hyperhomocysteinemia was detected in 18/55 patients (32.7%). In the remaining 37 patients, Hcy was measured again post-methionine loading (PML). Only 3/37 (8.1%) patients had PML hyperhomocysteinemia. Thus, the total prevalence of moderate hyperhomocysteinemia in this cohort of RVO patients was 21/55 (38.2%). The prevalence of homozygosity for C677T MTHFR genotype, but not that of heterozygosity for CBS844ins68, was significantly higher in RVO patients than in controls. CONCLUSIONS: Differently from what has been reported for arterial and/or venous thrombosis, a single fasting Hcy measurement is able to detect most of RVO patients (85.7%) with moderate hyperhomocysteinemia. C677T MTHFR, but not CBS 844ins68, genotype may play a role as risk factor for RVO.
Rossella Marcucci; Betti Giusti; Irene Betti; Lucia Evangelisti; Sandra Fedi; Andrea Sodi; Stefania Cappelli; Ugo Menchini; Rosanna Abbate; Domenico Prisco
Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Thrombosis research     Volume:  110     ISSN:  0049-3848     ISO Abbreviation:  Thromb. Res.     Publication Date:  2003 Apr 
Date Detail:
Created Date:  2003-07-24     Completed Date:  2004-04-15     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0326377     Medline TA:  Thromb Res     Country:  United States    
Other Details:
Languages:  eng     Pagination:  7-12     Citation Subset:  IM    
Dipartimento di Area Critica Medico-Chirurgica, Sez. di Clinica Medica Generale e Cliniche Specialistiche, University of Florence, Viale Morgagni, 85, 50134 Florence, Italy.
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MeSH Terms
Aged, 80 and over
Amino Acid Substitution
Cystathionine beta-Synthase / genetics*
Fasting / blood
Gene Frequency
Genetic Predisposition to Disease
Hyperhomocysteinemia / complications,  genetics*
Methionine / diagnostic use*,  pharmacology
Methylenetetrahydrofolate Reductase (NADPH2) / genetics*
Middle Aged
Mutagenesis, Insertional
Mutation, Missense
Point Mutation
Polymorphism, Genetic
Retinal Vein Occlusion / blood*,  etiology,  genetics
Risk Factors
Thrombophilia / complications,  genetics*
Reg. No./Substance:
63-68-3/Methionine; EC Reductase (NADPH2); EC beta-Synthase

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