scholarly journals C677T polymorphism of the MTHFR gene and variant hemoglobins: a study in newborns from Salvador, Bahia, Brazil

2004 ◽  
Vol 20 (2) ◽  
pp. 529-533 ◽  
Author(s):  
Fábio David Couto ◽  
Elisângela Vitória Adorno ◽  
Joelma Figueiredo Menezes ◽  
José Pereira Moura Neto ◽  
Marco Antônio Vasconcelos Rêgo ◽  
...  
Keyword(s):  
Allele Frequency ◽  
Methylenetetrahydrofolate Reductase ◽  
Serum Levels ◽  
Total Sample ◽  
Maternity Hospital ◽  
Mthfr Gene ◽  
C677t Polymorphism ◽  
Maternity Hospitals ◽  
Potential Risks ◽  
Total Homocysteine

The C677T polymorphism in the methylenetetrahydrofolate reductase gene (MTHFR) is associated with an increase in total homocysteine serum levels (tHcy), described as a risk factor for cardiovascular disease. Eight hundred forty-three neonates from two different maternity hospitals, one public and another private, in Salvador, Bahia, Brazil were screened for this polymorphism by PCR and RFLP. The T-allele frequency in the total sample was 0.23, and the prevalence rates of heterozygous and homozygous carriers were 36.2% and 5.3%, respectively. The T-allele frequency differed and the T/T genotype was more prevalent at the private maternity hospital. The hemoglobin (Hb) profile was investigated by HPLC in 763 newborns. The frequency of variant Hb was higher at the public than at the private maternity hospital. The association of the C677T polymorphism and the Hb profile was investigated in 683 newborns, showing a relatively high frequency of variant Hbs and the T allele. These data could provide an important basis for further studies focusing on potential risks of vaso-occlusive events in these individuals.

Hyperhomocysteinemia and C677T Polymorphism of Methylenetetrahydrofolate Reductase Gene in Patients with Cardiovascular Disease

Pteridines ◽  
2010 ◽  
Vol 21 (1) ◽  
pp. 103-109
Author(s):  
Zahira Houcher ◽  
Bakhouche Houcher ◽  
Abderezak Touabti ◽  
Samia Begag ◽  
Ayşenur Öztürk ◽  
...  
Keyword(s):  
Cardiovascular Disease ◽  
Methylenetetrahydrofolate Reductase ◽  
Mthfr C677t ◽  
C677t Polymorphism ◽  
Old Patients ◽  
Mthfr C677t Polymorphism ◽  
Plasma Thcy ◽  
C677t Mutation ◽  
Total Homocysteine ◽  
And Gender

Abstract The aim of the present study was to explore the influence of age and gender, on the association between the methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism and plasma total homocysteine (tHcy) concentrations in patients with cardiovascular disease (CVD). Fasting tHcy and the MTHFR C677T mutation were evaluated in 98 patients with CVD, 46 were men and 52 women (aged 20-96 years). There was a significant elevation of plasma tHcy with age (<45 yr: 33.9 μmol/L vs. >75 yr: 43.6 μmol/L; p <0.01). The mean tHcy concentration increased significantly with age in men (<55 yr: 33.4 μmol/L vs. >55yr: 42.45 μmol/L; p 0.01). However, the plasma tHcy was not increased with older age in women. The frequency of the TT genotype was 19.6% in the younger patients group (>55 yr) compared with 4.7% in the older patients group (>55 yr; p <0.01). In conclusion, the data presented here are consistent with genetic factors that influence tHcy levels being more prominent in old patients (>55 yr). Then, the MTHFR mutation does not seem to be associated with either high tHcy or the occurrence of CVD.

scholarly journals Elevated Serum Levels of Homocysteine as an Early Prognostic Factor of Psychiatric Disorders in Children and Adolescents

2012 ◽  
Vol 2012 ◽  
pp. 1-7 ◽  
Author(s):  
Laura Kevere ◽  
Santa Purvina ◽  
Daiga Bauze ◽  
Marcis Zeibarts ◽  
Raisa Andrezina ◽  
...  
Keyword(s):  
Mood Disorders ◽  
Affective Disorders ◽  
High Performance ◽  
Methylenetetrahydrofolate Reductase ◽  
Paranoid Schizophrenia ◽  
Linear Regression Analysis ◽  
Elevated Serum ◽  
Serum Levels ◽  
C677t Polymorphism ◽  
Schizophrenia Spectrum Disorders

Background and Goal. The aim was to examine the serum levels of homocysteine (Hcy) and their associations with the methylenetetrahydrofolate reductase (MTHFR) gene C677T polymorphism in patients with schizophrenia and mood disorders as well as controls.Materials and Methods. There were 198 patients: 82 with schizophrenia spectrum disorders, 22 with mood disorders, and 94 controls. The level of Hcy was determined by an isocratic high-performance liquid chromatography system.MTHFRC677T polymorphism was analysed using the restriction fragment length polymorphism-polymerase chain reaction method.Results. The average level of Hcy was11.94±5.6 μmol/L for patients with schizophrenia,11.65±3.3 μmol/L for patients with affective disorders, versus6.80±2.93 μmol/L in a control. The highest level of Hcy has been observed in patients with episodic-recurrent course of schizophrenia (11.30±7.74 μmol/L), paranoid schizophrenia continuous (12.76±5.25 μmol/L), and in patients with affective disorders (11.65±3.26 μmol/L). An association between theMTHFRgene C677T polymorphism and Hcy level was found by linear regression analysis (r=1.41,P=0.029).Conclusions. The data indicate a link between Hcy levels and schizophrenia and mood disorders. No associations between the level of Hcy in patients with schizophrenia and mood disorders and theMTHFRC677T polymorphism were found.

scholarly journals Methylenetetrahydrofolate (MTHFR), the One-Carbon Cycle, and Cardiovascular Risks

Nutrients ◽  
2021 ◽  
Vol 13 (12) ◽  
pp. 4562
Author(s):  
Shanel Raghubeer ◽  
Tandi E. Matsha
Keyword(s):  
Carbon Cycle ◽  
Methylenetetrahydrofolate Reductase ◽  
Mthfr Gene ◽  
C677t Polymorphism ◽  
Cardiovascular Risks ◽  
Mthfr Polymorphism ◽  
Dna And Rna ◽  
Inflammatory Conditions ◽  
Increased Risk ◽  
The One

The 5-10-methylenetetrahydrofolate reductase (MTHFR) enzyme is vital for cellular homeostasis due to its key functions in the one-carbon cycle, which include methionine and folate metabolism and protein, DNA, and RNA synthesis. The enzyme is responsible for maintaining methionine and homocysteine (Hcy) balance to prevent cellular dysfunction. Polymorphisms in the MTHFR gene, especially C677T, have been associated with various diseases, including cardiovascular diseases (CVDs), cancer, inflammatory conditions, diabetes, and vascular disorders. The C677T MTHFR polymorphism is thought to be the most common cause of elevated Hcy levels, which is considered an independent risk factor for CVD. This polymorphism results in an amino acid change from alanine to valine, which prevents optimal functioning of the enzyme at temperatures above 37 °C. Many studies have been conducted to determine whether there is an association between the C677T polymorphism and increased risk for CVD. There is much evidence in favour of this association, while several studies have concluded that the polymorphism cannot be used to predict CVD development or progression. This review discusses current research regarding the C677T polymorphism and its relationship with CVD, inflammation, diabetes, and epigenetic regulation and compares the evidence provided for and against the association with CVD.

scholarly journals Methylenetetrahydrofolate reductase gene C677T polymorphism and risk of alcohol dependence

2020 ◽  
Author(s):  
Vandana Rai ◽  
Pradeep Kumar
Keyword(s):  
Alcohol Dependence ◽  
Methylenetetrahydrofolate Reductase ◽  
Meta Analysis ◽  
Mthfr C677t ◽  
Mthfr Gene ◽  
Random Effects Model ◽  
C677t Polymorphism ◽  
Mthfr C677t Polymorphism ◽  
Reductase Gene ◽  
Methylenetetrahydrofolate Reductase Gene

AbstractAlcohol dependence is a complex neuropsychiatric disorder. Numerous studies investigated association between MTHFR gene C677T polymorphism and alcohol dependence (AD), but the results of this association remain conflicting. Accordingly, authors conducted a meta-analysis to further investigate such an association. PubMed, Elsevier Science Direct and Springer Link databases were searched for studies on the association between the MTHFR C677T polymorphism and AD. Pooled odds ratio (OR) with 95% confidence interval (CI) was calculated using the fixed- or random-effects model. Statistical analysis was performed with the software program MetaAnayst and MIX.A total of 11 articles were identified through a search of electronic databases, up to February 28, 2020. The results of the present meta-analysis did not show any association between MTHFR C677T polymorphisms and AD risk (for T vs. C: OR = 1.04, 95% CI = 0.88-1.24; CT vs. CC: OR=1.02, 95%CI= 0.62-1.68; for TT + CT vs. CC: OR = 1.10, 95% CI = 0.94-1.29; for TT vs. CC: OR = 1.01, 95% CI = 0.66-1.51; for TT vs. CT + CC: OR = 0.97, 95% CI = 0.66-1.40). Results of subgroup analysis showed no significant association between MTHFR C677T polymorphism with AD in Asian as well as in Caucasian population. In conclusion, C677T polymorphism is not a risk factor for alcohol dependence.

Roles of Methylenetetrahydrofolate Reductase C677T Polymorphism in Repeated Pregnancy Loss

2005 ◽  
Vol 11 (3) ◽  
pp. 343-345 ◽  
Author(s):  
Viroj Wiwanitkit
Keyword(s):  
Methylenetetrahydrofolate Reductase ◽  
Risk Estimation ◽  
Mthfr C677t ◽  
Mthfr Gene ◽  
C677t Polymorphism ◽  
Case Control Studies ◽  
Clinical Role ◽  
Mthfr C677t Polymorphism ◽  
Increased Risk ◽  
Considerable Controversy

Congenital thrombophilia in repeated pregnancy lost (RPL) has been noted for years. Methylenetetrahydrofolate reductase (MTHFR) gene is an interesting gene, mentioned for its possible roles in RPL. There is considerable controversy regarding the clinical role of MTHFR C677T polymorphism as a risk factor of RPL. Here, a summative analysis is performed on the recent previous reports on the MTHFR C677T and its correlation to RPL. The metanalysis was performed to assess the correlation between the pattern of MTHFR C677T polymorphism and RPL. From available eight case-control studies, 752 patients and 625 controls are evaluated. The overall frequencies of 4G allele for the patients and controls are 31.5 and 33.5, respectively. According to this study, 53.1% of subjects with T allele have RLP while 55.3% of subjects without T allele have RLP. From overall risk estimation, the subjects with T alleles have 0.96 times lower risk to RLP. According to this analysis, the pattern of MTHFR C677T polymorphism might not represent a useful marker of increased risk for RPL. In addition, there was no association between pattern of MTHFR C677T polymorphism and ethnicity of the patients in this study.

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