NDLI: Association of methylenetetrahydrofolate reductase (A1298C and C677T) polymorphisms with retinal vein occlusion in Tunisian patients.

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Association of methylenetetrahydrofolate reductase (A1298C and C677T) polymorphisms with retinal vein occlusion in Tunisian patients.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Mrad, Meriem Wathek, Cheima Saleh, Mekki Ben Baatour, Makrem Rannen, Riadh Lamine, Khaled Gabsi, Salem Gritli, Nasreddine Fekih-Mrissa, Najiba
Spatial Coverage	Tunisia
Description	Country affiliation: Tunisia Author Affiliation: Mrad M ( Université Tunis el Manar, Faculté des Science de Tunis, El Manar, Tunisia); Wathek C ( Université Tunis el Manar, Faculté de Médecine de Tunis, 1007 Tunis, Tunisia); Saleh MB ( Université Tunis el Manar, Faculté de Médecine de Tunis, 1007 Tunis, Tunisia); Baatour M ( Université Tunis el Manar, Faculté de Médecine de Tunis, 1007 Tunis, Tunisia); Rannen R ( Université Tunis el Manar, Faculté de Médecine de Tunis, 1007 Tunis, Tunisia); Lamine K ( Université Tunis el Manar, Faculté de Médecine de Tunis, 1007 Tunis, Tunisia); Gabsi S ( Université Tunis el Manar, Faculté de Médecine de Tunis, 1007 Tunis, Tunisia); Gritli N ( Hôpital Militaire Principal d'Instruction de Tunis, Service d'Hématologie, Laboratoire de Biologie Moléculaire, 1008 Montfleury, Tunisia); Fekih-Mrissa N ( Hôpital Militaire Principal d'Instruction de Tunis, Service d'Hématologie, Laboratoire de Biologie Moléculaire, 1008 Montfleury, Tunisia)
Abstract	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.
File Format	HTM / HTML
ISSN	14730502
Issue Number	2
Volume Number	50
Journal	Transfusion and Apheresis Science
Language	English
Publisher	Elsevier
Publisher Date	2014-04-01
Publisher Place	Great Britain (UK)
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Discipline Hematology Gene Frequency Genotype Methylenetetrahydrofolate Reductase (nadph2) Genetics Mutation, Missense Polymorphism, Restriction Fragment Length Retinal Vein Occlusion Adolescent Adult Aged Aged, 80 And Over Child Female Humans Male Middle Aged Polymerase Chain Reaction Enzymology Tunisia Clinical Trial Journal Article
Content Type	Text
Resource Type	Article
Subject	Hematology

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