Celiac Sprue, Hyperhomocysteinemia, and MTHFR Gene Variants

  title={Celiac Sprue, Hyperhomocysteinemia, and MTHFR Gene Variants},
  author={Gilbert M. Wilcox and Anthony R. Mattia},
  journal={Journal of Clinical Gastroenterology},
Goals To describe the association of untreated celiac disease with hyperhomocysteinemia and variants of the methylenetetrahydrofolicacid reductase (MTHFR) gene found in clinical practice. Study Case studies with description of associated clinical, biochemical, and genetic findings and review of literature. Results Five new cases and 7 additional cases found from literature search of hyperhomocysteinemia with celiac sprue are reported. Treatment with gluten-free diet and folic acid led to the… 
Is hyperhomocysteinemia relevant in patients with celiac disease?
The systematic assessment of hyperhomocysteinemia seems, at present, unjustified in CD patients.
The thrombophilic network of autoantibodies in celiac disease
It is suggested that the intestinal injury, endothelial dysfunction, platelet abnormality and enhanced apoptosis recently described in celiac disease are at the origin of the increased exposure of phospholipids or new epitopes representing autoantigens.
Polymorphic variants of genes involved in homocysteine metabolism in celiac disease
No significant association with CD was found for all tested polymorphic variants of genes involved in homocysteine metabolism and the exhaustive Multifactor Dimensionality Reduction analysis revealed no combination of interactive polymorphisms predicting the incidence of CD.
Hypercoagulability in celiac disease--an update.
Association of MTHFR gene C677T mutation with recurrent aphthous stomatitis and number of oral ulcers
Number of oral ulcers was found to be associated with MTHFR C677T mutation in RAS patients, and evaluation for MTH FR mutations and perhaps folate supplementation may become necessary in selected patients.
The role of hyperhomocysteinemia in neurological features associated with coeliac disease.
Effect of B vitamin supplementation on plasma homocysteine levels in celiac disease.
Homocysteine levels are dependent on Marsh classification and the regular use of B-vitamin supplements is effective in reduction of homocysteines levels in patients with celiac disease and should be considered in disease management.
Celiac Disease and Autoimmune-Associated Conditions
General practitioners and other specialists must remember that CD may debut with extraintestinal manifestations, and associated illnesses may appear both at the time of diagnosis and throughout the evolution of the disease.
Rare Association of Budd-Chiari Syndrome With Celiac Disease: A Case Report
The patient presented in the out-patient department with symptoms of progressive abdominal distension, diffuse abdominal pain and shortness of breath for one year, and a diagnosis of Budd-Chiari syndrome was confirmed.
Celiac disease with Budd–Chiari syndrome: A rare association
Budd–Chiari syndrome should be considered as an important differential in a patient with unexplained ascites and celiac disease, and should be put on oral anticoagulant with a gluten-free diet.


Prevalence of hyperhomocysteinemia in adult gluten-sensitive enteropathy at diagnosis: role of B12, folate, and genetics.
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  • Medicine
    Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association
  • 2005
Genetic polymorphism of 5,10-methylenetetrahydrofolate reductase (MTHFR) as a risk factor for coronary artery disease.
The VV genotype associated with a predisposition to increased plasma homocyst(e)ine levels may represent a genetic risk factor for CAD.
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It has been demonstrated, that supplementation of folate, vitamin B12, or vitamin B6 can correct mild and moderate hyperhomocysteinemia.
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Additional genetic variants in MTHFR and in other enzymes of homocysteine metabolism are being identified as the cDNAs/genes become isolated, and additional investigations are required to determine their clinical significance with respect to mild hyperhomocysteinemia and vascular disease.
A methylenetetrahydrofolate reductase polymorphism and the risk of colorectal cancer.
The data suggest that dietary methyl supply is particularly critical among MTHFR val/val individuals, probably because higher levels of 5,10-methylenetetrahydrofolate may prevent imbalances of nucleotide pools during DNA synthesis when alcohol consumption is depleted, leading to potentially oncogenic alterations in DNA methylation.
The methylenetetrahydrofolate reductase TT677 genotype is associated with venous thrombosis independently of the coexistence of the FV Leiden and the prothrombin A20210 mutation.
The TT MTHFR genotype is independently associated with venous thrombosis, mainly among individuals with a high risk profile and after stratification for FV Leiden and prothrombin A20210 mutations, a significant association was observed.
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The data indicate that the 677 C-->T MTHFR mutation has a significantly heterogeneous distribution among different ethnic groups, a fact that may contribute to explain geographical or racial differences in the risk for vascular disease.
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The study provides a fair estimate for the prevalence of the C677T substitution of the MTHFR gene in the general population in Wisconsin, which will facilitate further investigations of the pathogenic effects of the gene.