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Fernandez-Ballart, Joan DAuthor or co-author of article in journal with external admissions assessment committeeMurphy, Michelle MCorresponding Author

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Common polymorphisms that affect folate transport or metabolism modify the effect of the MTHFR 677C > T polymorphism on folate status

Publicated to:Journal Of Nutrition. 146 (1): 1-8 - 2016-01-01 146(1), DOI: 10.3945/jn.115.223685

Authors: Bueno, Olalla; Molloy, Anne M; Fernandez-Ballart, Joan D; Garcia-Minguillan, Carlos J; Ceruelo, Santiago; Rios, Lidia; Ueland, Per M; Meyer, Klaus; Murphy, Michelle M

Affiliations

BeVital AS, Bergen, Norway - Author
Inst Hlth Carlos III, Biomed Res Network, Pathophysiol Obes & Nutr CIBEROBN, Madrid, Spain - Author
Primary Hlth Ctr, El Morell, Spain - Author
Primary Hlth Ctr, Tarragona, Spain - Author
Trinity Coll Dublin, Sch Biochem & Immunol, Dublin, Ireland - Author
Trinity Coll Dublin, Sch Med, Dublin, Ireland - Author
Univ Bergen, Pharmacol Sect, Dept Clin Sci, Bergen, Norway - Author
Univ Rovira & Virgili, Pere Virgili Inst Hlth Res, Fac Med & Hlth Sci, Area Prevent Med & Publ Hlth, E-43201 Reus, Spain - Author
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Abstract

Background: Although combinations of biologically relevant polymorphic variants affect folate status, most studies have focused on the effects of individual polymorphisms; however, these effects may be altered by interactions between polymorphisms. Objective: We investigated the individual and combined effects of polymorphisms that affect folate transport or metabolism on folate status. Methods: The associations between the methylenetetrahydrofolate reductase (MTHFR) 677C > T, methionine transferase reductase (MTRR) 66A > G, MTRR 524C > T, 5,10-methylenetetrahydrofolate dehydrogenase-5,10-methylenetetrahydrofolate cyclohydrolase-10-formyltetrahydrofolate synthetase (MTHFD1) 1958G > A, MTHFD1 -105C > T, dihydrofolate reductase (DHFR) 19-bp insertion/deletion, and solute carrier family 19A, member 1 (SLC19A1) 80G > A polymorphisms and fasting plasma folate (PF), red cell folate (RCF), and plasma total homocysteine (tHcy) were tested by ANCOVA and Cox regression analysis in 781 Spanish adults. Results: Folate deficiency (PF <7 nmol/L) was observed in 18.8% of the participants. Geometric mean PF (nmol/L) was lower in MTHFR 677TT (10.0; 95% CI: 9.2, 11.9) compared with 677CC (12.4; 95% CI: 11.6, 13.2; P < 0.001). RCF (nmol/L) was lower in MTHFR 677TT (652; 95% CI: 611, 695) compared with 677CC (889; 95% CI: 851, 929; P < 0.001) and in SLC19A1 80AA (776; 95% CI: 733, 822) compared with 80GG (861; 95% CI: 815, 910; P < 0.01). RCF and tHcy (μmol/L) did not differ in MTHFR + MTRR 677TT/524TT compared with 677CC/524CC: 780 (95% CI: 647, 941) compared with 853 (95% CI: 795, 915; P = 0.99) and 10.2 (95% CI: 8.4, 12.3) compared with 8.9 (95% CI: 8.5, 9.4; P = 0.99), respectively. The RR of lowest-tertile RCF (≤680 nmol/L) was 2.1 (95% CI: 1.0, 4.5) for MTHFR + MTRR 677TT/66GG compared with 677CC/66AA, 2.2 (95% CI: 1.2, 4.1) for MTHFR + MTHFD1 677TT/1958AA compared with 677CC/1958GG, 2.9 (95% CI: 1.4, 6.0) for MTHFR + MTHFD1 677TT/-105TT compared with 677CC/-105CC, and 3.5 (95% CI: 1.5, 8.1) for MTHFR + SLC19A1 677TT/80AA compared with 677CC/80GG. Confining the analysis to the MTHFR 677TT genotype, the risk of lowest-tertile RCF was reduced for MTHFR + MTRR 677TT/66GG compared with 677TT/66AA (RR: 0.5; 95% CI: 0.3, 0.9). Conclusions: Folate status was lower in the MTHFR 677TT and SLC19A1 80AA genotypes compared with corresponding reference genotypes. Low folate status risk associated with the MTHFR 677TT genotype varied depending on its combination with other polymorphisms.

Keywords

homocysteinemthfd1 -105c > tmthfd1 1958g > amthfr 677c > tmtrr 524c > tmtrr 66a > gplasma folatepopulation studyslc19a1 80g > aAAdolescentAdultAgedAllelesCross-sectional studiesFastingFemaleFolic acidFolic acid deficiencyGGene frequencyGenotypeHomocysteineHumansMaleMethylenetetrahydrofolate reductase (nadph2)Middle agedMthfd1 -105c &gtMthfd1 -105c &gttMthfd1 -105c > tMthfd1 1958g &gtMthfd1 1958g &gtaMthfd1 1958g > aMthfr 677c &gtMthfr 677c &gttMthfr 677c > tMthfr protein, humanMtrr 524c &gtMtrr 524c &gttMtrr 524c > tMtrr 66a &gtMtrr 66a &gtgMtrr 66a > gPlasma folatePolymorphismPolymorphism, geneticPopulation studyProportional hazards modelsRed cell folateSlc19a1 80g &gtSlc19a1 80g &gtaSlc19a1 80g > aSpainTYoung adult

Quality index

Bibliometric impact. Analysis of the contribution and dissemination channel

The work has been published in the journal Journal Of Nutrition due to its progression and the good impact it has achieved in recent years, according to the agency WoS (JCR), it has become a reference in its field. In the year of publication of the work, 2016, it was in position 16/81, thus managing to position itself as a Q1 (Primer Cuartil), in the category Nutrition & Dietetics.

From a relative perspective, and based on the normalized impact indicator calculated from the Field Citation Ratio (FCR) of the Dimensions source, it yields a value of: 5.18, which indicates that, compared to works in the same discipline and in the same year of publication, it ranks as a work cited above average. (source consulted: Dimensions Jun 2025)

Specifically, and according to different indexing agencies, this work has accumulated citations as of 2025-06-27, the following number of citations:

  • WoS: 25
  • Scopus: 27
  • Europe PMC: 20

Impact and social visibility

From the perspective of influence or social adoption, and based on metrics associated with mentions and interactions provided by agencies specializing in calculating the so-called "Alternative or Social Metrics," we can highlight as of 2025-06-27:

  • The use, from an academic perspective evidenced by the Altmetric agency indicator referring to aggregations made by the personal bibliographic manager Mendeley, gives us a total of: 67.
  • The use of this contribution in bookmarks, code forks, additions to favorite lists for recurrent reading, as well as general views, indicates that someone is using the publication as a basis for their current work. This may be a notable indicator of future more formal and academic citations. This claim is supported by the result of the "Capture" indicator, which yields a total of: 68 (PlumX).

With a more dissemination-oriented intent and targeting more general audiences, we can observe other more global scores such as:

  • The Total Score from Altmetric: 0.25.
  • The number of mentions on the social network Facebook: 1 (Altmetric).

It is essential to present evidence supporting full alignment with institutional principles and guidelines on Open Science and the Conservation and Dissemination of Intellectual Heritage. A clear example of this is:

  • The work has been submitted to a journal whose editorial policy allows open Open Access publication.

Leadership analysis of institutional authors

This work has been carried out with international collaboration, specifically with researchers from: Norway; United Kingdom.

There is a significant leadership presence as some of the institution’s authors appear as the first or last signer, detailed as follows: Last Author (Murphy, Michelle).

the author responsible for correspondence tasks has been Murphy, Michelle.