Journal ArticleDOI
A Second Genetic Polymorphism in Methylenetetrahydrofolate Reductase (MTHFR) Associated with Decreased Enzyme Activity
TLDR
A second common variant in MTHFR (A1298C), an E to A substitution, was characterized, associated with decreased enzyme activity; homozygotes had approximately 60% of control activity in lymphocytes, lower than that seen in single heterozygotes for the C677T variant.About:
This article is published in Molecular Genetics and Metabolism.The article was published on 1998-07-01. It has received 1271 citations till now. The article focuses on the topics: Methylenetetrahydrofolate reductase & Allele frequency.read more
Citations
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Journal ArticleDOI
5, 10-Methylenetetrahydrofolate Reductase Gene Variants and Congenital Anomalies: A HuGE Review
Lorenzo D. Botto,Quanhe Yang +1 more
TL;DR: The risk for spina bifida associated with C677T homozygosity may depend on nutritional status or on the genotype of other folate-related genes (e.g., cystathionine-beta-synthase and methionine synthase reductase).
Journal ArticleDOI
Accounting for Human Polymorphisms Predicted to Affect Protein Function
Pauline C. Ng,Steven Henikoff +1 more
TL;DR: The SIFT (Sorting Intolerant From Tolerant) program was used to predict that 25% of 3084 nsSNPs from dbSNP, a public SNP database, would affect protein function, and found the number is likely to be much lower than reported.
Journal ArticleDOI
Genotyping of Single-Nucleotide Polymorphisms by High-Resolution Melting of Small Amplicons
Michael Liew,Robert J. Pryor,Robert Palais,Cindy Meadows,Maria Erali,Elaine Lyon,Elaine Lyon,Carl T. Wittwer,Carl T. Wittwer +8 more
TL;DR: In this article, high-resolution melting of PCR amplicons with the DNA dye LCGreen™ I was recently introduced as a homogeneous, closed-tube method of genotyping that does not require probes or real-time PCR.
Journal ArticleDOI
Polymorphisms in the methylenetetrahydrofolate reductase gene are associated with susceptibility to acute leukemia in adults
Christine F. Skibola,Martyn T. Smith,Eleanor Kane,Eve Roman,Sara Rollinson,Raymond A. Cartwright,Gareth J. Morgan +6 more
TL;DR: Individuals with the MTHFR 677TT, 1298AC, and 1298CC genotypes have a decreased risk of adult ALL, but not acute myeloid leukemia, which suggests that folate inadequacy may play a key role in the development of ALL.
Journal ArticleDOI
Polymorphisms in Genes Involved in Folate Metabolism and Colorectal Neoplasia: A HuGE Review
Linda Sharp,Julian Little +1 more
TL;DR: The roles of folate-pathway genes, folate, and related dietary factors in colorectal neoplasia are complex and research priorities are suggested.
References
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Journal ArticleDOI
A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase
P. Frosst,Henk J. Blom,Renate Milos,Philippe Goyette,Christal A. Sheppard,Rowena G. Matthews,G. J.H. Boers,M. den Heijer,Leo A. J. Kluijtmans,L.P.W.J. van den Heuvel,Rima Rozen +10 more
TL;DR: This work has identified a common mutation in MTHFR which alters a highly-conserved amino acid; the substitution occurs at a frequency of approximately 38% of unselected chromosomes and may represent an important genetic risk factor in vascular disease.
Mutated methylenetetrahydrofolate reductase as a risk factor for spina bifida [short report]
N.M.J. van der Put,Régine P.M. Steegers-Theunissen,P. Frosst,J. M. F. Trijbels,Tom K.A.B. Eskes,M. den Heyer,Rima Rozen,Henk J. Blom +7 more
Journal ArticleDOI
Mutated methylenetetrahydrofolate reductase as a risk factor for spina bifida
N.M.J. van der Put,F.J.M. Trijbels,L.P.W.J. van den Heuvel,Henk J. Blom,R.P.M. Steegers-Theunissen,Tom K.A.B. Eskes,Edwin C. M. Mariman,M. den Heyer,P. Frosst,Rima Rozen +9 more
TL;DR: The mutation was associated with decreased MTHFR activity, low plasma folate, and high plasma homocysteine and red-cell folate concentrations and should be regarded as a genetic risk factor for spina bifida.
Journal ArticleDOI
A genetic defect in 5,10 methylenetetrahydrofolate reductase in neural tube defects
Alexander S. Whitehead,Paula M. Gallagher,James L. Mills,P.N. Kirke,Helen Burke,Anne M. Molloy,D. G. Weir,Denis C. Shields,John M. Scott +8 more
TL;DR: Genetic screening could identify women who will require folic acid supplements to reduce their risk of having a child with an NTD, and explains the association between some NTDs and elevated homocysteine, given that the reductase is important in homocy steine metabolism.
Journal ArticleDOI
Genetic polymorphisms in methylenetetrahydrofolate reductase and methionine synthase, folate levels in red blood cells, and risk of neural tube defects.
Benedicte Christensen,Laura Arbour,Pamela V. Tran,Daniel Leclerc,Nelly Sabbaghian,Robert W. Platt,Brian M. Gilfix,David S. Rosenblatt,Roy A. Gravel,Patricia Forbes,Rima Rozen +10 more
TL;DR: It is proposed that the genetic-nutrient interaction--MTHFR polymorphism and low folate status--is associated with a greater risk for NTDs than either variable alone.