Print Email Facebook Twitter Red blood cell folate vitamer distribution in healthy subjects is determined by the methylenetetrahydrofolate reductase C677T polymorphism and by the total folate status Title Red blood cell folate vitamer distribution in healthy subjects is determined by the methylenetetrahydrofolate reductase C677T polymorphism and by the total folate status Author Smulders, Y.M. Smith, D.E.C. Kok, R.M. Teerlink, T. Gellekink, H. Vaes, W.H.J. Stehouwer, C.D.A. Jakobs, C. TNO Kwaliteit van Leven Publication year 2007 Abstract Background: Red blood cells (RBCs) represent a storage pool for folate. In contrast to plasma, RBC folate can appear in different biochemical isoforms. So far, only the methylenetetrahydrofolate reductase (MTHFR) 677 TT genotype has been identified as a determinant of RBC folate vitamer distribution. Objective: The purpose of this study is to identify clinical and biochemical determinants of RBC folate vitamer distribution in healthy subjects. Design: In an observational study, 109 subjects, aged 18 to 65 years, were studied. Red blood cell folate vitamers were analyzed using a liquid chromatography-tandem mass spectrometry method. Other variables recorded included vitamin B2, B6 and B12 status, homocysteine, plasma and RBC S-adenosylhomocysteine and S-adenosylmethionine, renal function and the MTHFR C677T polymorphism. Results: The MTHFR C677T genotype was the dominant determinant of nonmethylfolate accumulation. The median (range) nonmethylfolate/total folate ratio was 0.58% (0-12.2%) in the MTHFR CC group (n=55), 0.99% (0-14.3%) in the CT group (n=39) and 30.3% (5.7-73.3%) in the TT genotype group (n=15), P<.001. The 95th percentile for the nonmethylfolate/total folate ratio was 2.8% for the CC group, 9.1% for the CT group and 73.3% for the TT group. In the CC and CT genotype subjects, the T-allele and total folate status were positively and independently correlated with nonmethylfolate accumulation, but the degree of nonmethylfolate accumulation in these subjects was usually minor compared with those with the TT genotype. None of the other studied variables was associated with nonmethylfolate accumulation. Conclusions: The MTHFR C677T genotype is the dominant determinant of nonmethylfolate accumulation in RBCs. In addition, high total folate status may contribute to minor to moderate nonmethylfolate accumulation in MTHFR CC and CT subjects. © 2007 Elsevier Inc. All rights reserved. Subject BiologyAnalytical researchB vitaminsFolateMass spectrometryMethylenetetrahydrofolate reductase (MTHFR)Red blood cell5,10 methylenetetrahydrofolate reductase (FADH2)cyanocobalaminfolic acidhomocysteinepyridoxineriboflavins adenosylhomocysteines adenosylmethionineadultagedallelearticlecontrolled studyenzyme polymorphismerythrocytefemalegenotypehumankidney functionliquid chromatographymalenormal humanplasmatandem mass spectrometryAdolescentAdultErythrocytesFemaleFolic AcidHumansMaleMethylenetetrahydrofolate Reductase (NADPH2)Middle AgedPolymorphism, Genetic To reference this document use: http://resolver.tudelft.nl/uuid:d06500e3-3552-47d8-a6f6-671e0d0eb16e DOI https://doi.org/10.1016/j.jnutbio.2006.11.010 TNO identifier 240213 ISSN 0955-2863 Source Journal of Nutritional Biochemistry, 18 (10), 693-699 Document type article Files To receive the publication files, please send an e-mail request to TNO Library.