Association of methylenetetrahydrofolate reductase (A1298C and C677T) polymorphisms with retinal vein occlusion in Tunisian patients.
The role of two polymorphisms C677T and A1298C of the methylenetetrahydrofolate reductase (MTHFR) gene in the etiology of retinal vein occlusion (RVO) has not been adequately clarified. The aim of this study was to examine the prevalence of these polymorphisms among RVO Tunisian patients with and without systemic risk factors. Seventy-two patients with retinal vein occlusion (RVO) were studied. The control group included140 people matched for age, sex, and risk factors. Participants in the study were genotyped for the MTHFR C677T and A1298C polymorphisms. The genotyping was performed by PCR-RFLP. No significant differences were found in the frequencies of the three genotypes (AA, AC, CC) of the MTHFR A1298C polymorphism between RVO patients and healthy controls. However, the prevalence of the group of mutated genotypes (AC+CC) of the missense variant MTHFR A1298C was significantly different between patients and controls (16.67% vs. 6.42%, p=.01). Additionally, the frequency of the CT genotype as well as the group of combined mutated genotypes (CT+TT) for the C677T variant was significantly higher among RVO patients compared with controls (p<10(-3), p<10(-3)). This suggests an association between this polymorphism and RVO. Large study populations would be required to understand more completely the contribution of these markers in the risk of RVO.
Université Tunis el Manar, Faculté des Science de Tunis, El Manar, Tunisia; Hôpital Militaire Principal d'Instruction de Tunis, Service d'Hématologie, Laboratoire de Biologie Moléculaire, 1008 Montfleury, Tunisia.
Meriem
M
Mrad
Université Tunis el Manar, Faculté de Médecine de Tunis, 1007 Tunis, Tunisia; Hôpital Militaire Principal d'Instruction de Tunis, Service d'Ophtalmologie, 1008 Montfleury, Tunisia.
Cheima
C
Wathek
Université Tunis el Manar, Faculté de Médecine de Tunis, 1007 Tunis, Tunisia; Hôpital Militaire Principal d'Instruction de Tunis, Service des Urgences, 1008 Montfleury, Tunisia.
Mekki Ben
MB
Saleh
Université Tunis el Manar, Faculté de Médecine de Tunis, 1007 Tunis, Tunisia; Hôpital Militaire Principal d'Instruction de Tunis, Service des Urgences, 1008 Montfleury, Tunisia.
Makrem
M
Baatour
Université Tunis el Manar, Faculté de Médecine de Tunis, 1007 Tunis, Tunisia; Hôpital Militaire Principal d'Instruction de Tunis, Service d'Ophtalmologie, 1008 Montfleury, Tunisia.
Riadh
R
Rannen
Université Tunis el Manar, Faculté de Médecine de Tunis, 1007 Tunis, Tunisia; Hôpital Militaire Principal d'Instruction de Tunis, Service des Urgences, 1008 Montfleury, Tunisia.
Khaled
K
Lamine
Université Tunis el Manar, Faculté de Médecine de Tunis, 1007 Tunis, Tunisia; Hôpital Militaire Principal d'Instruction de Tunis, Service d'Ophtalmologie, 1008 Montfleury, Tunisia.
Salem
S
Gabsi
Hôpital Militaire Principal d'Instruction de Tunis, Service d'Hématologie, Laboratoire de Biologie Moléculaire, 1008 Montfleury, Tunisia; Université de Monastir, Faculté de Pharmacie, 5000 Monastir, Tunisia.
Nasreddine
N
Gritli
Hôpital Militaire Principal d'Instruction de Tunis, Service d'Hématologie, Laboratoire de Biologie Moléculaire, 1008 Montfleury, Tunisia; Académie Militaire Fondouk Jédid, 8012 Nabeul, Tunisia. Electronic address: fnajiba@yahoo.fr.
Najiba
N
Fekih-Mrissa
D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D008875:Middle Aged; D020125:Mutation, Missense; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D012170:Retinal Vein Occlusion / Q000201:enzymology / Q000235:genetics*; D014416:Tunisia
C573423:MTHFR protein, human; D042965:Methylenetetrahydrofolate Reductase (NADPH2)
MTHFR C677T and A1298C; PCR-RFLP; Retinal vein occlusion