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.

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

Pteridines ◽  
2012 ◽  
Vol 23 (1) ◽  
pp. 14-21 ◽  
Author(s):  
Zahira Houcher ◽  
Bakhouche Houcher ◽  
Abderrezak Touabti ◽  
Samia Begag ◽  
Yonca Egin ◽  
...  
Keyword(s):  
Cardiovascular Disease ◽  
Total Cholesterol ◽  
Methylenetetrahydrofolate Reductase ◽  
Elevated Serum ◽  
Vitamin B ◽  
C677t Polymorphism ◽  
Mthfr Polymorphism ◽  
Mthfr C677t Polymorphism ◽  
Plasma Folate ◽  
Plasma Thcy

Abstract 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 B12 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 B12 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 B12 concentrations independent of mutated MTHFR genotype. The effect of 677T variant on total cholesterol, folate and vitamin B12 concentrations may relate to possible adverse effects of elevated tHCY on lipid profiles and on plasma folate and vitamin B12.

scholarly journals Methylenetetrahydrofolate reductase C677T polymorphism and toxicity to 5-FU-based chemotherapy in colorectal cancer

2020 ◽  
Vol 19 (1) ◽  
pp. 209-213
Author(s):  
Yong-lian Zhang ◽  
Xiong-wei Xie
Keyword(s):  
Colorectal Cancer ◽  
Methylenetetrahydrofolate Reductase ◽  
Direct Sequencing ◽  
Skin Toxicity ◽  
Mthfr C677t ◽  
C677t Polymorphism ◽  
Mthfr Polymorphism ◽  
Mthfr C677t Polymorphism ◽  
C677t Mutation ◽  
Hematopoietic Toxicity

Purpose: To investigate the toxicity of methylenetetrahydrofolate reductase (MTHFR) polymorphism in colorectal cancer patients treated with 5-fluorouracil (5-FU).Methods: A total of 105 patients with colorectal cancer who underwent 5-FU therapy were included in this study. MTHFR C677T polymorphisms were determined using direct sequencing. Physical examination and the results of blood and urine tests were used to evaluate the toxicities, including gastrointestinal toxicity, hematopoietic toxicity, hair-skin toxicity and hand-foot syndrome.Results: In 90.5 % of all patients, 5-FU toxicity was observed. With regard to MTHFR C677T mutation, 45.7 % heterozygote mutants and 19.0 % homozygote mutants were observed. MTHFR C677T polymorphism was statistically related to 5-FU toxicity (p = 0.000). In addition, MTHFR C677T mutation was closely related to hematopoietic toxicity (p = 0.005).Conclusion: MTHFR C677T can be used for the prediction of 5-FU toxicity, and can also predict hematopoietic toxicity in patients with colorectal cancer. Keywords: MTHFR genes, Polymorphism, Colorectal cancer, Biomarker, Toxicity

scholarly journals Effect of riboflavin supplementation on blood pressure and possible effect modification by the MTHFR C677T polymorphism: a randomised trial in rural Gambia

F1000Research ◽  
2020 ◽  
Vol 9 ◽  
pp. 1034
Author(s):  
Modou Jobe ◽  
Mary Ward ◽  
Bakary Sonko ◽  
Abdul Khalie Muhammad ◽  
Ebrima Danso ◽  
...  
Keyword(s):  
Blood Pressure ◽  
Large Scale ◽  
Methylenetetrahydrofolate Reductase ◽  
Controlled Trial ◽  
Randomised Trial ◽  
Mthfr C677t ◽  
C677t Polymorphism ◽  
Phenotypic Effect ◽  
Riboflavin Deficiency ◽  
Mthfr C677t Polymorphism

Introduction: Emerging evidence links a functional polymorphism in the methylenetetrahydrofolate reductase (MTHFR) gene (rs1801133) with hypertension in adults. This variant reduces the affinity of MTHFR for its cofactor flavin-adenine dinucleotide (FAD) which is derived from riboflavin. Previous work has demonstrated a blood pressure (BP)-lowering effect of riboflavin in Irish adults with the MTHFR 677TT variant. We hypothesize that the almost-universal severe riboflavin deficiency seen in rural Gambia mimics the BP phenotypic effect of the TT variant and exacerbate the effect of the CT variant. We will test this in a randomised, placebo-controlled trial, whether intervention with riboflavin can decrease BP in adults in rural Gambia. Methods: This is a phase 2 recall-by-genotype randomised single-blind placebo-controlled riboflavin supplementation trial. We will use the Keneba biobank to recruit approximately 102 individuals aged between 18-70, previously genotyped for the MTHFR C677T polymorphism and identified as carrying the T allele; these individuals will be age- and sex-matched to a similar number of homozygotes for the C allele. The participants will be randomised to a 16-week supplementation trial of 5 mg/day riboflavin or placebo, supplied every 14 days. The primary outcome, BP, will be measured at baseline and at weeks 8 and 16. Blood samples, collected at baseline and week 16, will be analysed for riboflavin, homocysteine, red cell folate, cobalamin (vitamin B12) and pyridoxine (vitamin B6). Discussion: The study will evaluate the role of riboflavin supplementation in BP control within a population with high levels of riboflavin deficiency and will test a possible gene-nutrient interaction with the MTHFR C677T polymorphism. If improvements in BP are observed in this study, and proven in subsequent large-scale interventions, riboflavin could offer a cost-effective, safe and accessible option for the  prevention and control of hypertension in this population. Trial registration: ClinicalTrials.gov Identifier NCT03151096. Registered on 12 May 2017.

scholarly journals MTHFR Gene Polymorphism and Age of Onset of Schizophrenia and Bipolar Disorder

2014 ◽  
Vol 2014 ◽  
pp. 1-9 ◽  
Author(s):  
Mohamed A. El-Hadidy ◽  
Hanaa M. Abdeen ◽  
Sherin M. Abd El-Aziz ◽  
Mohammad Al-Harrass
Keyword(s):  
Bipolar Disorder ◽  
Healthy Subjects ◽  
Methylenetetrahydrofolate Reductase ◽  
Age Of Onset ◽  
Age At Onset ◽  
Mthfr C677t ◽  
Control Group ◽  
C677t Polymorphism ◽  
Mthfr C677t Polymorphism ◽  
Mthfr Gene Polymorphism

Objective. Several studies with contradictory results from different cultures about association of methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism in schizophrenia and bipolar disorders. Little is known about this association in Arab culture and Egypt. So the present study aimed to assess the association of MTHFR C677T polymorphism in bipolar disorder (BD) and schizophrenia in comparison to control group. The association between MTHFR C677T polymorphism and the age at onset in schizophrenia or BD was also studied.Methods. Polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) were used to examine the genotype and allele frequencies of MTHFR C677T polymorphism in 149 healthy subjects and 134 bipolar and 103 schizophrenia patients.Results. In BD and schizophrenia, there was a higher prevalence of MTHFR C677T polymorphism than healthy subjects. Earlier age at onset was found in patients with BD, carrying one copy of the T allele or CT genotypes but not in patients with schizophrenia.Conclusion. The present findings suggest that the MTHFR C677T polymorphisms are likely to be associated with the risk of developing BD and schizophrenia and influence the age at onset of BD but not the age at onset of schizophrenia.

Distribution of methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism in postmenopausal Indonesian women with osteoporosis – A preliminary study

2019 ◽  
Author(s):  
Widya Dwi Honesty Putri Soewarlan ◽  
Hedijanti Joenoes ◽  
Shafa Ahmad Bawazier ◽  
Dwi Anita Suryandari ◽  
Elza Ibrahim Auerkari
Keyword(s):  
Methylenetetrahydrofolate Reductase ◽  
Mthfr C677t ◽  
C677t Polymorphism ◽  
Mthfr C677t Polymorphism ◽  
Preliminary Study
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