P
P. Frosst
Researcher at National Institutes of Health
Publications - 17
Citations - 9593
P. Frosst is an academic researcher from National Institutes of Health. The author has contributed to research in topics: Methylenetetrahydrofolate reductase & Homocysteine. The author has an hindex of 13, co-authored 17 publications receiving 9416 citations. Previous affiliations of P. Frosst include Montreal Children's Hospital & Scripps Research Institute.
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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 Article
Molecular genetic analysis in mild hyperhomocysteinemia: a common mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease.
Leo A. J. Kluijtmans,L.P.W.J. van den Heuvel,Godfried H.J. Boers,P. Frosst,Erik M. B. Stevens,B.A. van Oost,M. den Heijer,F.J.M. Trijbels,Rima Rozen,Henk J. Blom +9 more
TL;DR: It is concluded that heterozygosity for CBS deficiency does not appear to be involved in premature cardiovascular disease, however, a frequent homozygous mutation in the MTHFR gene is associated with a threefold increase in risk for prematurely cardiovascular disease.
Journal ArticleDOI
Methylenetetrahydrofolate Reductase Polymorphism, Plasma Folate, Homocysteine, and Risk of Myocardial Infarction in US Physicians
Jing Ma,Meir J. Stampfer,C H Hennekens,P. Frosst,Jacob Selhub,J. Horsford,M R Malinow,Walter C. Willett,Rima Rozen +8 more
TL;DR: In this population of myocardial infarction patients, MTHFR polymorphism was associated with higher homocysteine levels but not with risk of MI, suggesting a gene-environment interaction might increase the risk by elevating tHCY, especially when folate intake is low.