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

Mrad, Meriem; Wathek, Cheima; Saleh, Mekki Ben; Baatour, Makrem; Rannen, R.; Lamine, Khaled; Gabsi, S.; Gritli, Nasreddine; Fekih-Mrissa, Najiba

doi:10.1016/j.transci.2013.12.016

Cited by 12 publications

(14 citation statements)

References 29 publications

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“…Therefore, our study was inconsistent with those studies that showed significant association between MTHFR A1298C polymorphism and RVT [17,19,20]. The reasons for discrepancies of association studies are numerous and many factors such as sample size, sample selection criteria, population heterogeneity, variation in study design and gene-gene and gene-environment interactions may contribute to variations in results [32].…”

Section: Discussioncontrasting

confidence: 63%

“…However, conflicting data have been reported regarding the relationship of the MTHFR A1298C polymorphism with hyperhomocysteinemia and RVT [16][17][18][19][20]30,31].…”

Section: Discussionmentioning

confidence: 99%

“…So far, only a few studies investigated the role of MTHFR A1298C in RVT [16][17][18][19]. More recently in a study by Mrad et al [20], it was shown that MTHFR A1298C polymorphism played a role in the pathogenesis of RVT. As there are limited data on the prevalence of MTHFR A1298C polymorphism in Iranian RVT patients, we aimed to perform a case-control study to investigate the relationship between the MTHFR A1298C polymorphism, tHcy levels and RVT development in an Iranian population.…”

Section: Introductionmentioning

confidence: 99%

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Plasma homocysteine levels, methylene tetrahydrofolate reductase A1298C gene polymorphism and risk of retinal vein thrombosis

Ghaznavi

Soheili

Samiei

et al. 2016

Blood Coagulation &Amp; Fibrinolysis

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There are limited data regarding the role of methylene tetrahydrofolate reductase (MTHFR) A1298C polymorphism and hyperhomocysteinemia as risk factors for retinal vein thrombosis (RVT) in Iranians. This study aimed to examine a possible association between fasting plasma total homocysteine (tHcy) levels, MTHFR A1298C polymorphism and RVT development in Iranian patients. Our study population consisted of 73 patients with a diagnosis of RVT (52.7 ± 16.2 years) and 73 age and sex-matched healthy controls (49.1 ± 14.6 years). Genotyping for the MTHFR A1298Cpolymorphism was conducted by PCR-RFLP technique and plasma tHcy levels were measured by an enzyme immunoassay method. Fasting plasma tHcy levels were 20.29 ± 8.5 μmol/l in RVT patients and 10.9 ± 3.1 μmol/l in control subjects. The number of cases with abnormal tHcy values (hyperhomocysteinemia) was significantly higher in the RVT patients than control subjects (P = 0.0001). The prevalence of MTHFR 1298CC homozygote genotype was similar in RVT patients and controls (17.8 vs.15.1%, P = 0.45). There were no significant differences in genotype distribution of MTHFR A1298C polymorphism between males and females in both RVT patients and controls (P > 0.05). The frequency of the 1298C allele was 39.1 and 35.6% in patients and controls, respectively, and did not differ significantly between them (P = 0.23). Moreover, heterozygote and homozygote genotypes in the RVT patients had significantly higher abnormal tHcy values than corresponding genotypes in control subjects (P < 0.001). Our study demonstrated that hyperhomocysteinemia but not homozygosity for MTHFR A1298C polymorphism is a significant risk factor for RVT in the Iranian population.

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Section: Discussioncontrasting

confidence: 63%

“…However, conflicting data have been reported regarding the relationship of the MTHFR A1298C polymorphism with hyperhomocysteinemia and RVT [16][17][18][19][20]30,31].…”

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Plasma homocysteine levels, methylene tetrahydrofolate reductase A1298C gene polymorphism and risk of retinal vein thrombosis

Ghaznavi

Soheili

Samiei

et al. 2016

Blood Coagulation &Amp; Fibrinolysis

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“…Another meta-analysis on the association of tHcy with RVO published in 2003 included only 19 case–control studies [ 16 ]. Since the meta-analysis was published, a variety of studies aimed at elucidating this relationship has yielded inconsistent results [ 10 , 14 , 17 – 20 ].…”

Section: Introductionmentioning

confidence: 99%

Homocysteine, methylenetetrahydrofolate reductase C677T polymorphism, and risk of retinal vein occlusion: an updated meta-analysis

Zhou

Peng

et al. 2014

BMC Ophthalmol

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BackgroundTo evaluate the role of plasma total homocysteine (tHcy) and homozygosity for the thermolabile variant of the methylenetetrahydrofolate reductase (MTHFR) C677T genotype in the risk of retinal vein occlusion (RVO).MethodsRelevant studies were selected through an extensive search of PubMed, EMBASE, and the Web of Science databases. Summary weighted mean differences (WMDs) or odds ratios (ORs) and 95% confidence intervals (CI) were calculated with a random-effects model.ResultsForty-two studies with 6445 participants were included in this updated systematic review and meta-analysis. The mean plasma tHcy level in the RVO patients was significantly higher than in the controls (WMD =2.13 μmol/L; 95% CI: 1.29 to 2.98, P < 0.001), but there was evidence of between-study heterogeneity (P < 0.001). No significant association between MTHFR C677T genotype and RVO was found under all genetic models.ConclusionThere was some evidence that plasma tHcy is associated with an increased risk of RVO. There was no evidence to suggest an association between homozygosity for the MTHFR C677T genotype and RVO.

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“…However, the authors found that it was not a statistically significant risk factor in a study of methylenetetrahydrofolate reductase (MTHFR) polymorphisms and RVO in Tunisian. 31 In contrast, The Beaver Dam Eye Study found that the age-adjusted incidence of retinal branch vein occlusion was strongly associated with current smoking (OR ¼ 4.43, 95% CI ¼ 1.53-12.84) compared with nonsmokers. 32 The present study showed that the APOE polymorphism is a risk factor in patients with RVO.…”

Section: Discussionmentioning

confidence: 94%

Role of the Apolipoprotein E Polymorphisms in the Development of Retinal Vein Occlusion in a Tunisian Population: A Case–Control Study

Mrad

Fekih-Mrissa

Wathek³

et al. 2016

Clin Appl Thromb Hemost

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Apolipoprotein E ( APOE) is a member of the apolipoprotein gene family. APOE is polymorphic with 3 main allelic types: ∊2, ∊3, and ∊4. Certain of these alleles have been associated with higher vascular risk. However, the association of APOE genotypes with retinal biomarkers and risk of retinal stroke is less clear. This study evaluated the role of APOE polymorphisms in retinal vein occlusion (RVO). In the present study, 2-point mutations coding amino acid residues 112 and 158 were amplified using the polymerase chain reaction (PCR) from DNA extracted from Tunisian participants. APOE genotypes were determined by multiplex PCR followed by molecular hybridization. Eighty-eight patients (26 women and 62 men) and 100 age- and gender-matched healthy participants were enrolled. The statistical study revealed a higher frequency of the ∊4 allele in patients as compared to controls (27.3% vs 9%) with a significant association of the ∊4 allele with the disease ( P < 10, P < 10, odds ratio [OR] = 3.8, 95% confidence interval [CI] = 2.1-6.8). The frequency of the ∊3 allele was significantly lower in the patients with RVO compared to the controls (60.2% vs 82.5%, respectively; P < 10, P < 10, OR = 0.32, 95% CI = 0.19-0.53). The ∊3 allele seems to be protective against the disease. There was no association between the APO ∊2 allele and RVO. The association of APOE allele and genotype with RVO requires further investigation in different populations.

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

Cited by 12 publications

References 29 publications

Plasma homocysteine levels, methylene tetrahydrofolate reductase A1298C gene polymorphism and risk of retinal vein thrombosis

Plasma homocysteine levels, methylene tetrahydrofolate reductase A1298C gene polymorphism and risk of retinal vein thrombosis

Homocysteine, methylenetetrahydrofolate reductase C677T polymorphism, and risk of retinal vein occlusion: an updated meta-analysis

Role of the Apolipoprotein E Polymorphisms in the Development of Retinal Vein Occlusion in a Tunisian Population: A Case–Control Study

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