scholarly journals Association of MTHFR rs1801133 and Homocysteine With Legg-Calvé-Perthes Disease in Mexican Patients

2021 ◽  
Author(s):  
José Guillermo Buendía Pazarán ◽  
Edgar Hernández Zamora ◽  
Armando Odiseo Rodríguez-Olivas ◽  
Leonora Casas Ávila ◽  
Margarita Valdés Flores ◽  
...  
Keyword(s):  
Mthfr C677t ◽  
Recessive Model ◽  
Perthes Disease ◽  
C677t Polymorphism ◽  
Avascular Osteonecrosis ◽  
Mthfr C677t Polymorphism ◽  
Mexican Children ◽  
Hardy Weinberg Equilibrium ◽  
Student’S T ◽  
Unclear Etiology

Abstract Background: Legg-Calvé-Perthes disease (LCPD) is an avascular osteonecrosis of the femoral epiphysis. It is a rare disease of unclear etiology in children. Alterations in coagulation, or the collagen gene have been described and could be associated with its etiology. Therefore, we set out to evaluate the following alterations: COL1A1 (rs1107946, rs2412298), COL2A1 (rs121912891 and rs387106558), MTHFR rs1801133, CBS rs115742905, and PT rs1799963 and their relationship with LCPD.Methods: DNA was obtained and genotyped by real-time PCR with TaqMan probes. It was determined prothrombin and homocysteine (Hcy) by a coagulometric method. The variables were described as mean and standard deviation or percentages, and genotypic and allelic distributions were analyzed using the Student's t-test. In addition, the Hardy-Weinberg equilibrium, and OR.Results: We studied 23 patients with LCPD and 46 controls. We did not find any association of the MTHFR, CBS, PT, COL1A1, and COL2A1 genetic variants with LCPD. However, when adjusting the data with the Hcy values for the MTHFR C677T polymorphism, the C/C genotypes showed an association with the recessive model (p = 0.038) with susceptibility to LCPD.Conclusion: No association was found with the CBS, PT, COL1A1, and COL2A1 genes. Nevertheless, our results suggest a significant link between moderately elevated Hcy levels and the MTHFR C677T polymorphism in a cohort of Mexican children with LCPD.

Familial cases of Mexican patients with Legg-Calvé-Perthes disease

2021 ◽  
Author(s):  
Armando Odiseo Rodríguez-Olivas ◽  
Edgar Hernández Zamora ◽  
Erika Rosales-Cruz ◽  
Leonora Casas-Ávila ◽  
Maragarita Valdés-Flores ◽  
...  
Keyword(s):  
Femoral Head ◽  
Protein S ◽  
Mthfr C677t ◽  
Factor Ix ◽  
Perthes Disease ◽  
C677t Polymorphism ◽  
Mthfr C677t Polymorphism ◽  
Familial Cases ◽  
Hemostatic Disorders ◽  
Collagen Genes

Abstract BackgroundLegg-Calvé-Perthes Disease (LCPD) is described as an avascular necrosis of the femoral head. Although its etiology is still not fully understood, evidences suggest heritable thrombotic disorders and other factors may be implicated in its onset and progress. Our objective is to describe, in three enrolled families, the genetic, biochemical and environmental factors that may be associated with the etiology and development of LCPD. MethodsTherefore, we set out to evaluate the following alterations of collagen genes: MTHFR rs1801133, CBS rs115742905, and PT rs1799963 and their relationship with LCPD. Thrombophilia associated markers (FI, FII, FV, FVII, FVIII, FIX, FX, FXI, FXII, FvW, PC, PS, AT, and homocysteine) were evaluated using coagulometry methods. Results: Seven LCPD patients and 14 healthy volunteers were enrolled. Concentrations in hemoglobin (p ≤ 0.0001), fibrinogen (P ≤ 0.0001), homocysteine (p = 0.0414), factor IX activity percentage (p ≤ 0.0001), and protein S (p = 0.0478) showed statistically significant differences. None of the evaluated polymorphisms showed statistically significant differences. However, all patients presented the mutated MTHFR C677T polymorphism in a homozygous (T/T) or heterozygous manner (C/T).ConclusionsOur results show environmental elements from every family and hemostatic disorders may be involved in suffering and developing LCPD. Also, heritable factors could contribute to the onset of the disease. Clearly, environmental, genetic, and prothrombotic factors are involved in this pathology.

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

MTHFR C677T polymorphism in chronic pancreatitis and pancreatic adenocarcinoma

2008 ◽  
Vol 26 (6) ◽  
pp. 659-663 ◽  
Author(s):  
Ivan Nisevic ◽  
Jelena Dinic ◽  
Aleksandra Nikolic ◽  
Valentina Djordjevic ◽  
Snezana Lukic ◽  
...  
Keyword(s):  
Chronic Pancreatitis ◽  
Pancreatic Adenocarcinoma ◽  
Mthfr C677t ◽  
C677t Polymorphism ◽  
Mthfr C677t Polymorphism

Lack of evidence of association between MTHFR C677T polymorphism and congenital heart disease in a TDT study design

2005 ◽  
Vol 105 (1) ◽  
pp. 15-18 ◽  
Author(s):  
Alexandre C. Pereira ◽  
José Xavier-Neto ◽  
Sônia M. Mesquita ◽  
Glória F.A. Mota ◽  
Antônio Augusto Lopes ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Study Design ◽  
Congenital Heart ◽  
Mthfr C677t ◽  
C677t Polymorphism ◽  
Mthfr C677t Polymorphism

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.

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