Homocysteine, MTHFR C677T gene polymorphism, folic acid and vitamin B 12 in patients with retinal vein occlusion
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BioMed Central
Open Access
Original clinical investigation
Homocysteine, MTHFR C677T gene polymorphism, folic acid and vitamin B 12 in patients with retinal vein occlusion Paola Ferrazzi1, Pierpaolo Di Micco*1, Ilaria Quaglia1, Lisa Simona Rossi1, Alessandro Giacco Bellatorre1, Giorgio Gaspari2, Lidia Luciana Rota1 and Corrado Lodigiani1 Address: 1Thrombosis Center, Istituto Clinico Humanitas "IRCCS", Milan, Italy and 2Ophtalmology Unit, Istituto Clinico Humanitas "IRCCS", Milan, Italy Email: Paola Ferrazzi - [email protected]; Pierpaolo Di Micco* - [email protected]; Ilaria Quaglia - [email protected]; Lisa Simona Rossi - [email protected]; Alessandro Giacco Bellatorre - [email protected]; Giorgio Gaspari - [email protected]; Lidia Luciana Rota - [email protected]; Corrado Lodigiani - [email protected] * Corresponding author
Published: 07 September 2005 Thrombosis Journal 2005, 3:13
doi:10.1186/1477-9560-3-13
Received: 19 June 2005 Accepted: 07 September 2005
This article is available from: http://www.thrombosisjournal.com/content/3/1/13 © 2005 Terrazzi et al; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
retinal vein occlusionthrombophiliahomocysteineMTHFR C677Tfolic acid
Abstract Background: Many available data have suggested that hyperhomocysteinaemia, an established independent risk factor for thrombosis (arterial and venous), may be associated with an increased risk of retinal vein occlusion (RVO). Aim of the study: To evaluate homocysteine metabolism in consecutive caucasian patients affected by RVO from Northern Italy. Patients and Methods: 69 consecutive patients from Northern Italy (mean age 64.1 ± 14.6 yy) with recent RVO, were tested for plasma levels of homocysteine (tHcy: fasting and after loading with methionine), cyanocobalamine and folic acid levels (CMIAAbbot) and looking for MTHFR C677T mutation (Light Cycler-Roche) and compared to 50 volunteers, enrolled as a control group. Results: Fasting levels of tHcy were significantly higher in patients than in controls: mean value 14.7 ± 7.7 vs 10.2 ± 8 nmol/ml. Post load levels were also significantly higher: mean value 42.7 ± 23.7 vs 30.4 ± 13.3 nmol/ml; Total homocysteine increase was also evaluated (i.e. ∆-tHcy) after methionine load and was also significantly higher in patients compared to control subjects: mean ∆-tHcy 27.8 ± 21.5 vs 21.0 ± 16 nmol/ml (normal value < 25 nmol/ml). Furthermore, patients affected by RVO show low folic acid and/or vitamin B12 levels, although differences with control group did not reach statistical significance. Heterozygous and homozygous MTHFR mutation were respectively in study group 46% and 29% vs control group 56% and 4%. Conclusion: our data confirm that hyperhomocysteinaemia is a risk fa
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