{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,20]],"date-time":"2026-09-20T03:09:25Z","timestamp":1789873765712,"version":"4.0.1"},"reference-count":53,"publisher":"MDPI AG","issue":"10","license":[{"start":{"date-parts":[[2016,10,9]],"date-time":"2016-10-09T00:00:00Z","timestamp":1475971200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Nutrients"],"abstract":"<jats:p>The effect of the betaine: homocysteine methyltransferase BHMT c.716G&gt;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 \u226412 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 (&gt;13.4 nmol\/L), least square geometric mean [95% CI] plasma dimethylglycine (pDMG, \u00b5mol\/L) was lower in the GA (2.35 [2.23, 2.47]) versus GG (2.58 [2.46, 2.70]) genotype at \u226412 GW (p &lt; 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 &lt; 0.05). No differences in pDMG between genotypes were observed in participants with possible folate deficiency (\u226413.4 nmol\/L) (p for interactions at \u226412 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 &lt; 0.01)). Possible deficiency compared to normal-high folate status was associated with higher pDMG in multiple linear regression analysis (\u03b2 coefficients [SEM] ranging from 0.07 [0.04], p &lt; 0.05 to 0.20 [0.04], p &lt; 0.001 in models from early and mid-late pregnancy) and the AA compared to GG genotype was associated with lower pDMG (\u03b2 coefficients [SEM] ranging from \u22120.11 [0.06], p = 0.055 to \u22120.23 [0.06], p &lt; 0.001). Conclusion: During pregnancy, the BHMT pathway is affected by folate status and by the variant BHMT c.716A allele.<\/jats:p>","DOI":"10.3390\/nu8100621","type":"journal-article","created":{"date-parts":[[2016,10,10]],"date-time":"2016-10-10T10:35:19Z","timestamp":1476095719000},"page":"621","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Maternal Folate Status and the BHMT c.716G&gt;A Polymorphism Affect the Betaine Dimethylglycine Pathway during Pregnancy"],"prefix":"10.3390","volume":"8","author":[{"given":"Jose","family":"Colomina","sequence":"first","affiliation":[{"name":"Area of Preventive Medicine and Public Health, Faculty of Medicine and Health Sciences, Universitat Rovira i Virgili, IISPV, C\/Sant Lloren\u00e7 21, Reus 43201, Spain"},{"name":"Ciberobn Fisiopatolog\u00eda de la Obesidad y Nutrici\u00f3n (CB06\/03), Instituto Carlos III, Madrid 28029, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pere","family":"Cavall\u00e9-Busquets","sequence":"additional","affiliation":[{"name":"Ciberobn Fisiopatolog\u00eda de la Obesidad y Nutrici\u00f3n (CB06\/03), Instituto Carlos III, Madrid 28029, Spain"},{"name":"Area of Obstetrics and Gynaecology, Hospital Universitari Sant Joan, Reus and Universitat Rovira i Virgili, Reus 43204, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S\u00edlvia","family":"Fern\u00e0ndez-Roig","sequence":"additional","affiliation":[{"name":"Area of Preventive Medicine and Public Health, Faculty of Medicine and Health Sciences, Universitat Rovira i Virgili, IISPV, C\/Sant Lloren\u00e7 21, Reus 43201, Spain"},{"name":"Ciberobn Fisiopatolog\u00eda de la Obesidad y Nutrici\u00f3n (CB06\/03), Instituto Carlos III, Madrid 28029, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pol","family":"Sol\u00e9-Navais","sequence":"additional","affiliation":[{"name":"Area of Preventive Medicine and Public Health, Faculty of Medicine and Health Sciences, Universitat Rovira i Virgili, IISPV, C\/Sant Lloren\u00e7 21, Reus 43201, Spain"},{"name":"Ciberobn Fisiopatolog\u00eda de la Obesidad y Nutrici\u00f3n (CB06\/03), Instituto Carlos III, Madrid 28029, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1320-6484","authenticated-orcid":false,"given":"Joan","family":"Fernandez-Ballart","sequence":"additional","affiliation":[{"name":"Area of Preventive Medicine and Public Health, Faculty of Medicine and Health Sciences, Universitat Rovira i Virgili, IISPV, C\/Sant Lloren\u00e7 21, Reus 43201, Spain"},{"name":"Ciberobn Fisiopatolog\u00eda de la Obesidad y Nutrici\u00f3n (CB06\/03), Instituto Carlos III, Madrid 28029, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M\u00f3nica","family":"Ballesteros","sequence":"additional","affiliation":[{"name":"Area of Obstetrics and Gynaecology, Hospital Universitari Joan XXIII, Tarragona and Universitat Rovira i Virgili, Tarragona 43005, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Per","family":"Ueland","sequence":"additional","affiliation":[{"name":"Section for Pharmacology, Department of Internal Medicine, University of Bergen, Bergen N-5020, Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Klaus","family":"Meyer","sequence":"additional","affiliation":[{"name":"Bevital A\/S, Laboratory building, 9th floor, Bergen N-5021, Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michelle","family":"Murphy","sequence":"additional","affiliation":[{"name":"Area of Preventive Medicine and Public Health, Faculty of Medicine and Health Sciences, Universitat Rovira i Virgili, IISPV, C\/Sant Lloren\u00e7 21, Reus 43201, Spain"},{"name":"Ciberobn Fisiopatolog\u00eda de la Obesidad y Nutrici\u00f3n (CB06\/03), Instituto Carlos III, Madrid 28029, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2016,10,9]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"551","DOI":"10.1042\/cs0810551","article-title":"Betaine-homocysteine methyltransferase: Organ distribution in man, pig and rat and subcellular distribution in the rat","volume":"81","author":"McKeever","year":"1991","journal-title":"Clin. 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