Author, as appears in the article.: Colomina J, Cavallé-Busquets P, Fernàndez-Roig S, Solé-Navais P, Fernandez-Ballart J, Ballesteros M, Ueland P, Meyer K, Murphy M

Department: Ciències Mèdiques Bàsiques

e-ISSN: 2072-6643

URV's Author/s: Fernández Ballart, Joan Domènech / Murphy, Michelle

Keywords: Synthase Risk Pregnancy Plasma homocysteine Methionine metabolism Mammals Homocysteine methyltransferase Gene-expression Folic-acid supplementation Folate Down-syndrome Dimethylglycine Bhmt c.716g>a Bhmt c.716g > a Betaine: homocysteine methyltransferase Betaine Association folate bhmt c.716g> dimethylglycine betaine: homocysteine methyltransferase betaine a

Abstract: The effect of the betaine: homocysteine methyltransferase BHMT c.716G>A (G: guanosine; A: adenosine) single nucleotide polymorphism (SNP) on the BHMT pathway is unknown during pregnancy. We hypothesised that it impairs betaine to dimethylglycine conversion and that folate status modifies its effect. We studied 612 women from the Reus Tarragona Birth Cohort from ¿12 gestational weeks (GW) throughout pregnancy. The frequency of the variant BHMT c.716A allele was 30.8% (95% confidence interval (CI): 28.3, 33.5). In participants with normal-high plasma folate status (>13.4 nmol/L), least square geometric mean [95% CI] plasma dimethylglycine (pDMG, µmol/L) was lower in the GA (2.35 [2.23, 2.47]) versus GG (2.58 [2.46, 2.70]) genotype at ¿12 GW (p < 0.05) and in the GA (2.08 [1.97, 2.19]) and AA (1.94 [1.75, 2.16]) versus GG (2.29 [2.18, 2.40]) genotypes at 15 GW (p < 0.05). No differences in pDMG between genotypes were observed in participants with possible folate deficiency (¿13.4 µmol/L) (p for interactions at ¿12 GW: 0.023 and 15 GW: 0.038). PDMG was lower in participants with the AA versus GG genotype at 34 GW (2.01 [1.79, 2.25] versus 2.44 [2.16, 2.76] and at labour, 2.51 [2.39, 2.64] versus 3.00 [2.84, 3.18], (p < 0.01)). Possible deficiency compared to normal-high folate status was associated with higher pDMG in multiple linear regression analysis (¿ coefficients [SEM] ranging from 0.07 [0.04], p < 0.05 to 0.20 [0.04], p < 0.001 in models from early and mid-late pregnancy) and the AA compared to GG genotype was associated with lower pDMG (¿ coefficients [SEM] ranging from -0.11 [0.06], p = 0.055 to -0.23 [0.06], p < 0.001). Conclusion: During pregnancy, the BHMT pathway is affected by folate status and by the variant BHMT c.716A allele.

Thematic Areas: Zootecnia / recursos pesqueiros Saúde coletiva Química Psicología Planejamento urbano e regional / demografia Nutrition and dietetics Nutrition & dietetics Nutrição Medicina veterinaria Medicina iii Medicina ii Medicina i Interdisciplinar Food science Farmacia Engenharias iv Engenharias ii Enfermagem Educação física Economia Ciências biológicas iii Ciências biológicas ii Ciências biológicas i Ciências agrárias i Ciência de alimentos Biotecnología

licence for use: https://creativecommons.org/licenses/by/3.0/es/

ISSN: 20726643

Author's mail: michelle.murphy@urv.cat

Author identifier: 0000-0002-6304-6204

Record's date: 2023-02-22

Journal volume: 8

Papper version: info:eu-repo/semantics/publishedVersion

Link to the original source: https://www.mdpi.com/2072-6643/8/10/621

Licence document URL: http://repositori.urv.cat/ca/proteccio-de-dades/

Papper original source: Nutrients. 8 (10):

APA: Colomina J, Cavallé-Busquets P, Fernàndez-Roig S, Solé-Navais P, Fernandez-Ballart J, Ballesteros M, Ueland P, Meyer K, Murphy M (2016). Maternal folate status and the BHMT c.716g>A polymorphism affect the betaine dimethylglycine pathway during pregnancy. Nutrients, 8(10), -. DOI: 10.3390/nu8100621

Article's DOI: 10.3390/nu8100621

Entity: Universitat Rovira i Virgili

Journal publication year: 2016

Publication Type: Journal Publications