Genetic determinants of fasting and post-methionine hyperhomocysteinemia in patients with retinal vein occlusion.
BACKGROUND
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.


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.
Marcucci
Rossella
R
Dipartimento di Area Critica Medico-Chirurgica, Sez. di Clinica Medica Generale e Cliniche Specialistiche, University of Florence, Viale Morgagni, 85, 50134 Florence, Italy.
Giusti
Betti
B
Betti
Irene
I
Evangelisti
Lucia
L
Fedi
Sandra
S
Sodi
Andrea
A
Cappelli
Stefania
S
Menchini
Ugo
U
Abbate
Rosanna
R
Prisco
Domenico
D
D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D019943:Amino Acid Substitution; D003541:Cystathionine beta-Synthase / Q000235:genetics*; D005215:Fasting / Q000097:blood; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D020138:Hyperhomocysteinemia / Q000150:complications / Q000235:genetics*; D008297:Male; D008715:Methionine / Q000494:pharmacology; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D008875:Middle Aged; D016254:Mutagenesis, Insertional; D020125:Mutation, Missense; D017354:Point Mutation; D011110:Polymorphism, Genetic; D012170:Retinal Vein Occlusion / Q000097:blood* / Q000209:etiology / Q000235:genetics; D012307:Risk Factors; D019851:Thrombophilia / Q000150:complications / Q000235:genetics*
D008715:Methionine; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D003541:Cystathionine beta-Synthase