ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testing (Q34320780)

1 August 2017

title

ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testing (English)

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1 August 2017

Scott E Hickey

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1 August 2017

Cynthia J Curry

series ordinal

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1 August 2017

Helga V Toriello

series ordinal

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1 August 2017

language of work or name

English

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publication date

3 January 2013

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1 August 2017

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1 August 2017

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1 August 2017

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1 August 2017

page(s)

153-156

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A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase

1 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.165

A second genetic polymorphism in methylenetetrahydrofolate reductase (MTHFR) associated with decreased enzyme activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.165

Genotype and haplotype distributions of MTHFR677C>T and 1298A>C single nucleotide polymorphisms: a meta-analysis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.165

Detection of 677CT/1298AC "double variant" chromosomes: implications for interpretation of MTHFR genotyping results

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.165

Correlation of a common mutation in the methylenetetrahydrofolate reductase gene with plasma homocysteine in patients with premature coronary artery disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.165

MTHFR 677C->T genotype is associated with folate and homocysteine concentrations in a large, population-based, double-blind trial of folic acid supplementation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.165

Hyperhomocysteinemia as a risk factor for deep-vein thrombosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.165

Homocysteine and risk of ischemic heart disease and stroke: a meta-analysis

21 January 2018

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https://api.crossref.org/works/10.1038%2FGIM.2012.165

Use of Framingham risk score and new biomarkers to predict cardiovascular mortality in older people: population based observational cohort study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.165

Reconciling the evidence on serum homocysteine and ischaemic heart disease: a meta-analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.165

Genetic and environmental determinants of plasma total homocysteine levels: impact of population-wide folate fortification

21 January 2018

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https://api.crossref.org/works/10.1038%2FGIM.2012.165

Homocysteine lowering with folic acid and B vitamins in vascular disease

21 January 2018

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https://api.crossref.org/works/10.1038%2FGIM.2012.165

Homocysteine lowering and cardiovascular events after acute myocardial infarction

21 January 2018

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https://api.crossref.org/works/10.1038%2FGIM.2012.165

Efficacy of folic acid supplementation in stroke prevention: a meta-analysis

21 January 2018

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https://api.crossref.org/works/10.1038%2FGIM.2012.165

Effects of lowering homocysteine levels with B vitamins on cardiovascular disease, cancer, and cause-specific mortality: Meta-analysis of 8 randomized trials involving 37 485 individuals

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.165

Homocysteine and coronary heart disease: meta-analysis of MTHFR case-control studies, avoiding publication bias

21 January 2018

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https://api.crossref.org/works/10.1038%2FGIM.2012.165

Homocysteine, MTHFR and risk of venous thrombosis: a meta-analysis of published epidemiological studies.

21 January 2018

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https://api.crossref.org/works/10.1038%2FGIM.2012.165

Impact of thrombophilia on risk of arterial ischemic stroke or cerebral sinovenous thrombosis in neonates and children: a systematic review and meta-analysis of observational studies.

21 January 2018

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https://api.crossref.org/works/10.1038%2FGIM.2012.165

Gene polymorphisms and risk of adult early-onset ischemic stroke: A meta-analysis

21 January 2018

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https://api.crossref.org/works/10.1038%2FGIM.2012.165

Genes associated with adult cerebral venous thrombosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.165

Peripheral arterial disease and methylenetetrahydrofolate reductase (MTHFR) C677T mutations: A case-control study and meta-analysis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.165

MTHFR 677C>T and ACE D/I polymorphisms in migraine: a systematic review and meta-analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.165

Strong association of methylenetetrahydrofolate reductase gene C677T polymorphism with hypertension and hypertension-in-pregnancy in Chinese: a meta-analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.165

Association of C677T polymorphism in the methylenetetrahydrofolate reductase gene with hypertension in pregnancy and pre-eclampsia: a meta-analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.165

Hyperhomocysteinemia and recurrent early pregnancy loss: a meta-analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.165

Association of parental hyperhomocysteinemia and C677T Methylene tetrahydrofolate reductase (MTHFR) polymorphism with recurrent pregnancy loss

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.165

Strong association of 677 C>T substitution in the MTHFR gene with male infertility--a study on an indian population and a meta-analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.165

Neural tube defects and folate: case far from closed

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.165

Meta- and pooled analyses of the methylenetetrahydrofolate reductase C677T and A1298C polymorphisms and gastric cancer risk: a huge-GSEC review

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.165

Review and pooled analysis of studies on MTHFR C677T polymorphism and esophageal cancer.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.165

Methylenetetrahydrofolate reductase polymorphisms and breast cancer risk: a meta-analysis from 41 studies with 16,480 cases and 22,388 controls.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.165

Meta-analysis of MTHFR gene variants in schizophrenia, bipolar disorder and unipolar depressive disorder: evidence for a common genetic vulnerability?

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.165

Metaanalysis of methylenetetrahydrofolate reductase (MTHFR) polymorphisms affecting methotrexate toxicity

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.165

Methylene tetrahydrofolate reductase gene polymorphisms and their association with methotrexate toxicity: a meta-analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.165

A field synopsis and meta-analysis of genetic association studies in peripheral arterial disease: The CUMAGAS-PAD database

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.165

MTHFR and the risk for cerebral venous thrombosis--a meta-analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.165

Ischaemic stroke subtypes and their genetic basis: a comprehensive meta-analysis of small and large vessel stroke

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.165

The genetics of primary haemorrhagic stroke, subarachnoid haemorrhage and ruptured intracranial aneurysms in adults

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.165

ACE and MTHFR gene polymorphisms in unexplained recurrent pregnancy loss

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.165

Frequency of the thermolabile variant C677T in the MTHFR gene and lack of association with neural tube defects in the State of Yucatan, Mexico

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.165

Maternal one-carbon metabolism, MTHFR and TCN2 genotypes and neural tube defects in India.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.165

Mutations C677T and A1298C of the 5,10-methylenetetrahydrofolate reductase gene and fasting plasma homocysteine levels are not associated with the increased risk of venous thromboembolic disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.165

No association between the MTHFR A1298C and transcobalamin C776G genetic polymorphisms and hyperhomocysteinemia in thrombotic disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.165

Methylenetetrahydrofolate reductase gene C677T and A1298C polymorphisms, plasma homocysteine, folate, and vitamin B12 levels and the extent of coronary artery disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.165

Clinical utility of genotyping the 677C>T variant of methylenetetrahydrofolate reductase in humans is decreased in the post-folic acid fortification era.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.165

Effect modification by population dietary folate on the association between MTHFR genotype, homocysteine, and stroke risk: a meta-analysis of genetic studies and randomised trials

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.165

Practice bulletin no. 124: inherited thrombophilias in pregnancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.165

Clinical guidelines for testing for heritable thrombophilia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.165

American College of Medical Genetics consensus statement on factor V Leiden mutation testing

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.165

Age, homocysteine, and oxidative stress: relation to hypertension and type 2 diabetes mellitus

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.165

Homocysteine and folate in pregnancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.165

Prospective study of methylenetetrahydrofolate reductase (MTHFR) variant C677T and risk of all-cause and cardiovascular disease mortality among 6000 US adults

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.165

Methylenetetrahydrofolate reductase 677 C/T genotype and cardiovascular disease mortality in postmenopausal women

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.165

Meta- and pooled analyses of the methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism and colorectal cancer: a HuGE-GSEC review

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.165

Interaction between hyperhomocysteinemia and inherited thrombophilic factors in venous thromboembolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.165

Prevention of neural tube defects: results of the Medical Research Council Vitamin Study. MRC Vitamin Study Research Group

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.165

Prevention of the First Occurrence of Neural-Tube Defects by Periconceptional Vitamin Supplementation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.165

The common 'thermolabile' variant of methylene tetrahydrofolate reductase is a major determinant of mild hyperhomocysteinaemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.165

7 January 2021

The genetics of venous thromboembolism. A meta-analysis involving approximately 120,000 cases and 180,000 controls

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.165

7 January 2021

Methylenetetrahydrofolate reductase C677T polymorphism and the risk of male infertility: a meta-analysis

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.165

7 January 2021

Methylenetetrahydrofolate reductase C677T polymorphism and the risk of unexplained recurrent pregnancy loss: a meta-analysis

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.165

7 January 2021

Functional inference of the methylenetetrahydrofolate reductase 677C > T and 1298A > C polymorphisms from a large-scale epidemiological study

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.165

7 January 2021

Association between MTHFR A1298C polymorphism and neural tube defect susceptibility: a metaanalysis

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.165

7 January 2021

The effect of folic acid fortification on plasma folate and total homocysteine concentrations

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.165

7 January 2021

Methylenetetrahydrofolate reductase gene polymorphisms and acute lymphoblastic leukemia risk: a meta-analysis based on 28 case-control studies

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.165

7 January 2021

Hyperhomocysteinemia, methylenetetrahydrofolate reductase c.677C>T polymorphism and risk of cancer: cross-sectional and prospective studies and meta-analyses of 75,000 cases and 93,000 controls

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.165

7 January 2021

Policy statement on folic acid and neural tube defects

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.165

7 January 2021

Identifiers

DOI

10.1038/GIM.2012.165

1 reference

release_xewd465b5japhcak2pglcxbys4

1 August 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/xewd465b5japhcak2pglcxbys4

24 November 2022

mapped directly with Wikidata item

1 reference