scholarly journals Relationship of MTHFR and ACE gene Variations with Migraine Susceptibility: A Case-Control Study in the Population of North India (Jammu)

2018 ◽  
Vol 15 (4) ◽  
pp. 851-860
Author(s):  
Raman Jasrotia ◽  
Jyotdeep K. Raina ◽  
Minakshee Sharma ◽  
Rakesh K. Panjaliya ◽  
B.R. Kundal ◽  
...  
Keyword(s):  
Mthfr C677t ◽  
Mthfr Gene ◽  
North India ◽  
Positive Role ◽  
Mthfr C677t Polymorphism ◽  
Ace Gene ◽  
Pcr Rflp ◽  
Allele Variant ◽  
Relationship Of

Disturbance in vascular functioning pathways has been related to pathophysiology of migraine. The present study investigated the role of MTHFR C677T and ACE I/D gene polymorphisms in migraine susceptibility within the population of Jammu province of J&K state. A sum of 252 subjects including 102 migraine patients and 150 non-migrainous unrelated healthy controls were enrolled for the present study. PCR-RFLP was performed for determining MTHFR gene variations. For detecting insertion/deletion in ACE gene PCR was performed. In case of MTHFR, ‘T’ allele (variant allele) and TT genotype (variant) was found to be present only in migraine patients but not in controls thereby suggesting its positive role in migraine pathophysiology. For ACE I/D polymorphism, higher frequency of DD genotype (32.35 % vs 15.3 %) and D allele (0.51 vs 0.4) were observed in patients than in controls. Logistic regression analysis revealed a significant association of ACE I/D polymorphism with risk of migraine. However, a direct link of MTHFR C677T polymorphism with migraine risk was not found.

scholarly journals PREVALENCE OF MTHFR GENE 677C>T POLYMORPHISM IN THE PATIENTS WITH PSORIASIS VULGARIS

2021 ◽  
Vol 27 (2) ◽  
pp. 3707-3711
Author(s):  
Borislav Dimitrov ◽  
◽  
Dimitar Gospodinov ◽  
Veronika Gincheva ◽  
Regina Komsa-Penkova ◽  
...  
Keyword(s):  
Psoriasis Vulgaris ◽  
Mthfr C677t ◽  
Mthfr Gene ◽  
Mthfr Polymorphism ◽  
Significant Difference ◽  
Pcr Rflp ◽  
Pasi Score ◽  
Bulgarian Population ◽  
Relationship Of ◽  
The Relationship

The study aimed to investigate the relationship between carriage of 677C>T polymorphism in the gene of methylene tetrahydrofolate reductase (MTHFR) and plaque psoriasis in patients in Bulgaria. We examined the prevalence of MTHFR C677T genotype in patients with psoriasis, as well as the relationship of the polymorphism with disease severity. Our study covered63 patients with psoriasis and 98psoriasis-free control subjects from northern Bulgaria. MTHFR677C>T genotype was verified by the PCR-RFLP method. There was no significant difference between carriage of TT genotype among the patients and controls: 12.7% versus 10.8 %in controls, OR 1.203, (CI 95% 0465-3.175), p>0.05 respectively. There was a higher PASI score in patients, carriers of TT genotype of MTHFR polymorphism 677C>T than in non-carriers, 28.18versus 24.87 respectively, but not significant. Conclusion: Carriage of TT genotype of MTHFR polymorphism 677C>T was not associated with Psoriasis Vulgaris in the northern Bulgarian population when compared to healthy controls.

Methylenetetrahydrofolate reductase polymorphisms as risk factors for retinal venous occlusive disease: A literature review

2021 ◽  
pp. 112067212110006
Author(s):  
Manuel Marques ◽  
Francisco Alves ◽  
Miguel Leitão ◽  
Catarina Rodrigues ◽  
Joana Tavares Ferreira
Keyword(s):  
Risk Factors ◽  
Literature Review ◽  
Methylenetetrahydrofolate Reductase ◽  
Mthfr C677t ◽  
Mthfr Gene ◽  
Mthfr Polymorphisms ◽  
Vein Occlusion ◽  
C677t Mutation ◽  
Retinal Vascular Disease

The role of polymorphisms of methylenetetrahydrofolate reductase (MTHFR) gene in retinal vein occlusion (RVO) is a theme of discussion since the first reports of RVO in patients with MTHFR C677T mutation and without classic acquired risk factors for retinal vascular disease. The association between MTHFR polymorphisms and RVO has been studied over the last 20 years producing conflicting results. This review aims to summarize the literature concerning the role MTHFR polymorphisms as risk factors for RVO.

scholarly journals MTHFR C677T Polymorphism and Risk of HCC in Patients With Liver Cirrhosis: Role of Male Gender and Alcohol Consumption

2009 ◽  
Vol 33 (1) ◽  
pp. 102-107 ◽  
Author(s):  
Carlo Fabris ◽  
Pierluigi Toniutto ◽  
Edmondo Falleti ◽  
Elisabetta Fontanini ◽  
Annarosa Cussigh ◽  
...  
Keyword(s):  
Liver Cirrhosis ◽  
Alcohol Consumption ◽  
Mthfr C677t ◽  
Male Gender ◽  
C677t Polymorphism ◽  
Mthfr C677t Polymorphism

Association between FVL G1691A, MTHFR C677T and A1298C Polymorphisms with Risk for Retinopathy of PrematurityAssociation between FVL G1691A, MTHFR C677T and A1298C Polymorphisms with Risk for Retinopathy of Prematurity

2021 ◽  
Author(s):  
Hamideh Shajari ◽  
Mohammadamin Ghadyani ◽  
Seyed Hamed Hosseini-Jangjou ◽  
Reza Bahrami ◽  
Seyed Alireza Dastgheib ◽  
...  
Keyword(s):  
Retinopathy Of Prematurity ◽  
Factor V Leiden ◽  
Mthfr C677t ◽  
Mthfr Gene ◽  
Factor V ◽  
Background Retinopathy ◽  
Increased Risk ◽  
Pcr Rflp ◽  
Rflp Assay ◽  
Preventable Blindness

Background: Retinopathy of prematurity (ROP) is an important cause of preventable blindness in children. The aim of this study was to examine the association of the polymorphisms at Factor V Leiden (FVL) and methylene tetrahydrofolate reductase (MTHFR) gene with risk of ROP. Methods: A total of 106 neonates with ROP and 110 healthy neonates were enrolled. The FVL G1691A and MTHFR C677T and A1298C polymorphisms were genotyped by PCR-RFLP assay. Results: There was a significant association between FVL G1691A polymorphism and an increased risk of ROP. However, the MTHFR C677T and A1298C polymorphisms were not associated with risk of ROP. Conclusion: FVL G1691A polymorphism may be risk factor for development of ROP in neonates. However, there was no significant association between MTHFR C677T and A1298C polymorphisms and risk of ROP. However, it is critical that larger and well-designed studies in different ethnicities are needed to confirm our conclusions.

Impact of Inherited Thrombophilia Factors On Thrombotic Risk in Patients with Newly Diagnosed BCR- Abl (-) Myeloproliferative Disorders; Finally a Role of MTHFR- C677T Polymorphism?

Blood ◽  
2012 ◽  
Vol 120 (21) ◽  
pp. 5065-5065 ◽  
Author(s):  
Emmanouil Papadakis ◽  
Valia Papageorgiou ◽  
Konstantinos Tsepanis ◽  
Dionysia Theocharidou ◽  
Vassilios K Papadopoulos ◽  
...  
Keyword(s):  
Platelet Count ◽  
Myeloproliferative Neoplasms ◽  
Factor V Leiden ◽  
Mthfr C677t ◽  
C677t Polymorphism ◽  
Thrombotic Risk ◽  
Mthfr C677t Polymorphism ◽  
Inherited Thrombophilia ◽  
The Impact

Abstract Abstract 5065 Introduction: Myeloproliferative Neoplasms (MPN) are commonly associated with thrombotic complications, which constitute the major cause for morbidity and mortality in these patients. While the pathogenesis of Thrombosis is not yet fully elucidated, the impact of inherited thrombophilia on MPN patients is unknown. MTHFR-C677T polymorphism is a usual variation of the MTHFR gene and exerts weak, if any, prothrombotic role mainly through increased homocysteine levels. Up to date there are no specific guidelines for treatment of thrombotic events in MPN patients. Objectives: The purpose of our study is to determine the impact of inherited thrombophilia factors on thrombotic risk in patients with newly diagnosed BCR- abl (-) myeloproliferative neoplasms. We also tried to assess the role of the MTHFR- C677T polymorphism in thrombotic risk in our MPN patients. Material and Methods: Our study population consisted of 68 patients diagnosed with BCR- abl (-) myeloproliferative neoplasms in the Hematology Department of our Hospital during the period 2005– 2008. Diagnosis was set according to the World Health Organization and Updated European Clinical and Pathological criteria for the Diagnosis, Clasification and Staging of the Philadelphia chromosome (-) chronic myeloproliferative disorders. Age, Sex, Platelet count, serum homocysteine levels, presence of Jak-2 mutation, together with genetic polymorphisms of Factor V-Leiden and FII- G121120A prothrombin mutations, and MTHFR- C677T polymorphism were assessed. Among our patients, whose median age was 65 years (range 21– 83), 40 were male and 28 female. 41 patients were diagnosed with essential thrombocythemia (ET), 22 with Polycythemia Vera (PV), 3 with essential myelofibrosis and 2 with Unclassified Chronic bcr- abl (-) MPN. Statistical analysis was conducted with SPSS 20. 0. At first a monovariate statistical model was used with significant level set at p= 0. 05. For the multivariable statistical analysis model we used all variables with p<0, 05 from the previous model and those mentioned at recent medical literature as significantly related with thrombotic risk. Results: From our patients, 31 suffered a thrombotic event (arterial or venous thrombosis, microvascular disorders). Regarding their thrombophilia profile patients were found to be: 4 carriers of the FVL mutation, 4 carriers of the FII- G121120A and 13 were carrying the MTHFR- C677T polymorphism. Moreover, 56 patients were tested for Jak-2V617F, and 42 of them were found to be positive (100% patients with P. V., 79% ET patients). We tried to define whether the following variables are high risk factors for thrombotic events in our population: Platelet count, serum homocystein levels, presence of Jak-2 mutation, Factor V-Leiden and FII- G121120A, mutations, and MTHFR- C677T. Surprisingly, the presence of MTHFR- C677T reached statistical significance on the monovariate analysis (p= 0. 001), while published data on general thrombosis population don't show any correlation of the MTHFR- C677T with thrombotic events. Jak-2 mutation was studied in a subgroup of patients, which didn't include patients with PV and was found to be statistically significant thrombosis risk factor in the monovariate analysis. Multiple regression analysis revealed MTHFR- C677T genetic polymorphism as independent risk factor concerning thrombotic events in patients with BCR- abl (-) MPNs (p= 0. 01, Exp (B)= 39. 227, 95%CI: 2. 41 –638. 547). The mean concentration of serum homocystein and the mean platelet count didn't show any statistically significant difference between patients carying MTHFR- C677T polymorphism and MTHFR- C677T negative patients. So serum homocystein levels and platelet count were not found to be confounding factors. In addition the co- existence of MTHFR- C677T with either G121120A or FVL mutations was detected in 4 patients, and all of them suffered from thrombotic events. Conclusions: Our study is the first to demonstrate a prothrombotic role of MTHFR- C677T polymorphism in a MPN population. Thrombophilia studies are needed in MPN patients in order to better assess the thrombotic risk for the patients but foremost to properly tailor anticoagulant treatment after a thrombotic episode. Disclosures: No relevant conflicts of interest to declare.

scholarly journals The Role of Polymorphism Gen Methylene Tetra Hydrofolate Reductase (MTHFR) C677T in Ischaemic Stroke Patients with and Without Hypertension

2019 ◽  
Vol 7 (1) ◽  
pp. 29-32 ◽  
Author(s):  
Cut Aria Arina ◽  
Darwin Amir ◽  
Yahwardiah Siregar ◽  
Rosita J. Sembiring
Keyword(s):  
Ischaemic Stroke ◽  
Mthfr C677t ◽  
Cross Sectional Study ◽  
Sectional Study ◽  
Stroke Patients ◽  
Exclusion Criteria ◽  
Cross Sectional ◽  
Mthfr Genotype ◽  
Pcr Rflp

BACKGROUND: Stroke is a leading cause of disability and remains the second leading cause of death in the world. Some of the pathogenesis of stroke are interactions between genetic and acquired risk factors, the interaction is related with the atherosclerotic which is the main pathogenesis of ischaemic stroke. Previous studies demonstrated an association between methylene tetra hydro folate reductase (MTHFR) genotype and ischaemic stroke; the MTHFR C677T genotype is one of the independent risk factor. AIM: This study aims to know about the role of polymorphism gen MTHFR C677T in ischaemic stroke patients with and without hypertension. METHODS: This study is a cross-sectional study, the sample was taken consecutively, after approval by the Medical Faculty Science’s Ethics Committee at University Sumatera Utara. All sample matched with inclusion and exclusion criteria, demography data and blood sample were taken. Demography data were analysed using descriptive statistic. RESULTS: Of the 106 ischaemic stroke patients were divided into two groups, the first group is patients with hypertension (53 patients), and the second group is without hypertension (53 patients). We have done the PCR- RFLP to all the patients, we got 78 patients with 677CC of MTHFR genotype, 23 patients with 677CT genotype and 5 patients with 677TT genotype. We found polymorphism C677T is more frequent in ischaemic stroke patients with hypertension (16 patients; 69.5%), and all the patient with 677TT genotype are an ischaemic stroke with hypertension (5 patients; 100%). CONCLUSION: We concluded that polymorphism MTHFR C677T have an important role in hypertension and ischaemic stroke.

A case-control study investigating the effect of MTHFR C677T variant on performance of elite athletes

2020 ◽  
Vol 20 ◽  
Author(s):  
Ayse Feyda Nursal ◽  
Serbulent Yigit ◽  
Husniye Rustemoglu ◽  
Abdullah Cenikli
Keyword(s):  
Athletic Performance ◽  
Methylenetetrahydrofolate Reductase ◽  
Elite Athletes ◽  
Mthfr C677t ◽  
Mthfr Gene ◽  
Control Group ◽  
Genotype Distribution ◽  
Significant Difference ◽  
Pcr Rflp ◽  
Strength Of Association

Objective: Increased level of plasma homocysteine (Hcy) is a potential risk factor for several multi-system diseases. The Methylenetetrahydrofolate reductase (MTHFR) gene C677T variant has been established as an important genetic determinant of hyperhomocysteinemia. There are conflicting reports about the effects of physical activity on plasma Hcy. Therefore, the main aim of this study was to investigate whether the MTHFR C677T variant affects the elite athletic performance. Methods: This study was carried out on 214 individuals (114 elite athletes and 100 sedentary controls). Genotyping was performed using PCR- RFLP method. Odds ratios (ORs) with 95% confidence intervals (CIs) were used to assess the strength of association. Results: There was a significant difference between the athletes and the control group in genotype distribution and allele frequency of the MTHFR C677T variant. MTHFR C677T CC genotype and C allele were more prevalent in elite athletes than those in the sedentary controls (p =0.007, OR: 2.16, 95%:1.26-3.70; p=0.009, OR: 1.84, 95%:1.18-2.89, respectively). The control group had a higher MTHFR C677T CT genotype than the athletes had (p=0.019, OR: 0.51, 95%:0.30-0.88). There was no deviation from HWE for the MTHFR C677T variant in the groups. Conclusion: Our findings support that there is an association between the MTHFR C677T C allele and athletic performance among the elite Turkish athletes.

scholarly journals Plasma Homocysteine Level And C677T Polymorphism In MTHFR Gene In Patients With Acute Coronary Syndrome

2015 ◽  
Vol 8 (1) ◽  
pp. 46-51
Author(s):  
Andrey V. Grek ◽  
Lyudmyla N. Prystupa ◽  
Tatiana V. Sytnik
Keyword(s):  
Acute Coronary Syndrome ◽  
Endothelial Dysfunction ◽  
Homocysteine Level ◽  
Mthfr C677t ◽  
Mthfr Gene ◽  
Control Group ◽  
C677t Polymorphism ◽  
Mthfr Polymorphism ◽  
Mthfr C677t Polymorphism ◽  
Coronary Syndrome

SummaryCardiovascular diseases (CVD) of atherosclerotic origin and accompanying complications are a major cause of mortality in the world and Ukraine, in particular. Endothelial dysfunction is the key cause of atherosclerosis and atherothrombosis. One of the causes of endothelial dysfunction is hyperhomocysteinemia that may occur on the background of MTHFR (methylenetetrahydrofolate reductase) mutation.Thus, the goal of the study was to investigate the interrelation between homocysteine (Hc) level and MTHFR polymorphism in patients with acute coronary syndrome (ACS).161 patients with ischemic heart disease and ACS have been examined. The control group comprised 87 healthy individuals. Homocysteine level was the highest in the patients having ACS with ST-segment elevation and complicated course, and was 1.8 times higher than Hc level in the control group. The patients with the most severe ACS course comprised 27 % of homozygotes for the major allele C and 41 % of homozygotes for the minor allele T. Comparing the distribution of MTHFR gene C677T polymorphism in patients with ACS that were stratified by plasma Hc level, we observed a statistically significant association, P < 0.030 by chi-square test. We confirmed that these patients had a high T/T genotype frequency of MTHFR C677T polymorphism. The obtained data proved the association of T/T genotype of MTHFR C677T polymorphism with increased Hc level as well as ACS severity.

scholarly journals METHYLENETETRAHYDROFOLATE REDUCTASE C677T GENE POLYMORPHISM AND PROSTATE CANCER RISK

2018 ◽  
Vol 11 (5) ◽  
pp. 387
Author(s):  
Samah Tellouche-bouhouhou ◽  
Djalila Chellat-rezgoune ◽  
Noureddine Abadi ◽  
Dalila Satta ◽  
Abderrezak Dahdouh
Keyword(s):  
Prostate Cancer ◽  
Methylenetetrahydrofolate Reductase ◽  
Cancer Susceptibility ◽  
Prostate Cancer Risk ◽  
Mthfr C677t ◽  
Mthfr Gene ◽  
Single Nucleotide ◽  
Mthfr C677t Polymorphism ◽  
Increased Risk ◽  
Significant Difference

Objective: The single nucleotide polymorphism C677T of the methylenetetrahydrofolate reductase (MTHFR) gene encodes a thermolabile enzyme. This polymorphism was found to be implicated in cancer susceptibility. In this study, we analyzed the distribution of the MTHFR C677T polymorphism in two cohorts; patients and controls native of East of Algeria to explore the possible association between this polymorphism and prostate cancer susceptibility.Methods: Our examination has been conducted in 98 cases and 98 healthy controls. Genotyping was realized by polymerase chain reaction-restriction fragment length polymorphism method.Results: Compared with CC homozygous, the CT heterozygous was found to have a significantly increased risk of prostate cancer (p=0.04; odds ratio [OR]=2.01, 95% confidence interval [CI]: 1.02–3.95). However, no statistically significant difference was observed concerning the TT homozygous (p=0.74; OR=1.25, 95% CI: 0.51–3.04).Conclusion: Our results indicate that the genotype CT is a risk factor for prostate cancer in East of Algeria.

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