The Prevalence of Methylenetetrahydrofolate Reductase 677 C-T, Factor V 1691 G-A, and Prothrombin 20210 G-A Mutations in Healthy Populations in Sétif, Algeria

Bourouba, Romyla; Houcher, Bakhouche; Djabi, Farida; Eğin, Yonca; Akar, Nejat

doi:10.1177/1076029608319944

Cited by 19 publications

(11 citation statements)

References 40 publications

(42 reference statements)

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“…Whether MTHFR C677 T mutation could only be considered a thrombophilic risk factor is a controversial matter, whereas it is accepted that a homozygous MTHFR C677 T mutation can be considered a factor of thrombophilia when associated with other thrombophilic conditions (10). Furthermore, the prevalence of a heterozygous MTHFR C677 T mutation, which does not have any clinical consequences, varies greatly in ethnic groups and shows a worldwide heterogeneous distribution; Italian people show a very high T allele frequency (11).…”

mentioning

confidence: 99%

Inherited thrombophilia in infertile women: implication in unexplained infertility

Casadei

Puca

Privitera

et al. 2010

Fertility and Sterility

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confidence: 99%

Inherited thrombophilia in infertile women: implication in unexplained infertility

Casadei

Puca

Privitera

et al. 2010

Fertility and Sterility

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“…The C677T variant is common in the general population, with a population-specific prevalence ranging from 1% in African and North American Blacks to 20% in Italians and North American Hispanics (38)(39)(40)(41). In Algeria, the homozygous mutant TT genotype for the MTHFR C677T polymorphism affects about 14% of individuals (42). In this study, the frequency of MTHFR TT genotype in CVD patients was 14.3 %.…”

Section: Discussionmentioning

confidence: 50%

Nutritional Factors, Homocysteine and C677T Polymorphism of the Methylenetetrahydrofolate Reductase Gene in Algerian Subjects with Cardiovascular Disease

Houcher¹,

Houcher²,

Touabti³

et al. 2012

Pteridines

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The C677T variant of methylenetetrahydrofolate reductase (MTHFR), a key enzyme in the remethylation of homocysteine (HCY) to methionine, is a frequent genetic cause of moderate hyperhomocysteinemia (HHCY) among individuals with cardiovascular disease (CVD), and particularly when combined with other factors such as hyperlipidaemia. However, in Algeria the influence of nutrient-gene interactions is not known. The aim of the present study was to explore the influence of age and gender, together with folate status, on the association between the C677T MTHFR polymorphism and plasma total HCY (tHCY) concentrations. This research was carried out as a prospective study on 98 patients hospitalized in the Cardiology Section, University of Sétif, Algeria. Mean age of participants was 57 y (range 20-96 y).The genetic analysis of the MTHFR C677T polymorphism was performed by real-time polymerase chain reaction (PCR) performed on Light Cycler in borosilicate capillaries with MTHFR 677CT polymorphism detection kit. The concentrations of tHCY, folic acid vitamin B 12 levels were determined using a competitive immunoassay on the IMMULITE 1000 Analyzers. Plasma total cholesterol, triglycerides, glucose, creatinine and urea concentrations were measured by colorimetric methods. Assays were conducted according to the manufacturers' instructions. Plasma tHCY was significantly higher in the patients with CVD, and HHCY was associated with the presence of mildly elevated serum urea and creatinine (p <0.05). MTHFR gene mutation does not seem to be associated with elevation of plasma tHCY in the studied patients and this lack of correlation could be influenced by the higher folate concentrations in our study. CVD patients with 677CT/TT genotypes had a higher concentration of total cholesterol than those with 677CC genotype (p <0.05). Although, the presence of 677T variant together with hypofolatemia (<15.4 ng/ml) had a more detrimental effect on the level of total cholesterol (p <0.05). Folatemia and vitamin B 12 were much higher in 677CC genotype compared to 677CT/TT genotype in CVD subjects without hyperlipidemia (p <0.05). However in patients with hyperlipidemia these values became lower also with 677CC genotype. In conclusion, hyperlipidemia affects the levels of plasma folate and vitamin B 12 concentrations independent of mutated MTHFR genotype. The effect of 677T variant on total cholesterol, folate and vitamin B 12 concentrations may relate to possible adverse effects of elevated tHCY on lipid profiles and on plasma folate and vitamin B 12 .

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“…Similar to FVL mutation, its prevalence has also been detected high in white population of European origin [21]. The FVL and PT G20210A mutations appear to be specific to Caucasians and virtually absent in those from Asia and Africa [22]. These mutations are associated with high risk of DVT [23].…”

Section: Discussionmentioning

confidence: 99%

The incidence of FVL and PT G20210A mutations in patients with idiopathic deep venous thrombosis

Ekim¹,

Ekim²

2018

J Phlebol Lympho

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Background: Factor V Leiden (FVL), prothrombin gene (PT G20210A), and methylenetetrahydrofolate reductase (MTHFR) C677T mutations are known as molecular biomarkers to evaluate the predisposition of deep venous thrombosis (DVT). These hereditary risk factors affect the natural anticoagulant mechanisms and activate the coagulation mechanisms because of an imbalance between procoagulant and anticoagulant factors. Our study aimed to determine the prevalence of these mutations in Turkish patients presenting with idiopathic DVT. Methods: A total of 135 patients with idiopathic DVT admitted to our clinic were investigated for FVL, PT G20210A, and MTHFR (C677T, A1298C) gene mutations. Screening of polymorphisms was carried out by using SNaPshot ® multiplex system (Applied Biosystems Inc.). Wild, heterozygous and homozygous genotypic distributions of these mutations were defined as number and percentage frequency. Results: There were 74 male and 61 female patients ranging in age from 18 to 85 years. FVL mutation was found in 66 (41.47%) patients (12 homozygotes 8.88%, 44 heterozygotes 32.59%), PT G20210A was found in 14 (10.36%) patients (1 homozygous 0.74%, 13 heterozygotes 9.62%). MTHFR C677T was found in 53 (39.25%) patients (10 homozygotes 7.40%, 43 heterozygotes 31.85%), and MTHFR A1298C was found in 84 (62.22%) patients (16 homozygotes 11.85%, 68 heterozygotes 50.37%).

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The Prevalence of Methylenetetrahydrofolate Reductase 677 C-T, Factor V 1691 G-A, and Prothrombin 20210 G-A Mutations in Healthy Populations in Sétif, Algeria

Cited by 19 publications

References 40 publications

Inherited thrombophilia in infertile women: implication in unexplained infertility

Inherited thrombophilia in infertile women: implication in unexplained infertility

Nutritional Factors, Homocysteine and C677T Polymorphism of the Methylenetetrahydrofolate Reductase Gene in Algerian Subjects with Cardiovascular Disease

The incidence of FVL and PT G20210A mutations in patients with idiopathic deep venous thrombosis

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