PMID- 19825913 OWN - NLM STAT- MEDLINE DCOM- 20110104 LR - 20100820 IS - 1938-2723 (Electronic) IS - 1076-0296 (Linking) VI - 16 IP - 5 DP - 2010 Oct TI - Hyperhomocysteinemia and C677T MTHFR genotype in patients with retinal vein thrombosis. PG - 549-53 LID - 10.1177/1076029609348644 [doi] AB - 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. FAU - Sottilotta, Gianluca AU - Sottilotta G AD - Hemophilia Centre, Hemostasis and Thrombosis Service, Azienda Ospedaliera "Bianchi-Melacrino-Morelli", Reggio Calabria, Italy. gianluca.sottilotta@virgilio.it FAU - Siboni, Simona Maria AU - Siboni SM FAU - Latella, Caterina AU - Latella C FAU - Oriana, Vincenzo AU - Oriana V FAU - Romeo, Ermelinda AU - Romeo E FAU - Santoro, Rita AU - Santoro R FAU - Consonni, Dario AU - Consonni D FAU - Trapani Lombardo, Vincenzo AU - Trapani Lombardo V LA - eng PT - Journal Article PT - Multicenter Study DEP - 20091013 PL - United States TA - Clin Appl Thromb Hemost JT - Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis JID - 9508125 RN - EC 1.5.1.20 (Methylenetetrahydrofolate Reductase (NADPH2)) SB - IM MH - Adult MH - Aged MH - Aged, 80 and over MH - Case-Control Studies MH - Cohort Studies MH - Female MH - Genetic Predisposition to Disease MH - Genotype MH - Humans MH - Hyperhomocysteinemia/*blood/*genetics MH - Male MH - Methylenetetrahydrofolate Reductase (NADPH2)/*genetics MH - Middle Aged MH - Polymorphism, Genetic MH - Retinal Vein Occlusion/*blood/*genetics MH - Retrospective Studies MH - Risk Factors MH - Young Adult EDAT- 2009/10/15 06:00 MHDA- 2011/01/05 06:00 CRDT- 2009/10/15 06:00 PHST- 2009/10/15 06:00 [entrez] PHST- 2009/10/15 06:00 [pubmed] PHST- 2011/01/05 06:00 [medline] AID - 1076029609348644 [pii] AID - 10.1177/1076029609348644 [doi] PST - ppublish SO - Clin Appl Thromb Hemost. 2010 Oct;16(5):549-53. doi: 10.1177/1076029609348644. Epub 2009 Oct 13.