{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,13]],"date-time":"2026-01-13T05:38:36Z","timestamp":1768282716456,"version":"3.49.0"},"reference-count":33,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2009,7,29]],"date-time":"2009-07-29T00:00:00Z","timestamp":1248825600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Human Genetics"],"published-print":{"date-parts":[[2009,9]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Low folate status may be a consequence of suboptimal intake, transport or cellular utilization of folate and, together with elevated homocysteine, is a recognized risk factor or marker for several human pathologies. As folate transport across cell membranes is mediated in part by the reduced folate carrier (RFC1), variants within <jats:italic>SLC19A1,<\/jats:italic> the gene that encodes <jats:italic>RFC1,<\/jats:italic> may influence disease risk via an effect on folate and\/or homocysteine levels. The present study was undertaken to assess the association between the <jats:italic>SLC19A1<\/jats:italic> c.80G&gt;A polymorphism and folate\/homocysteine concentrations in healthy young adults from Northern Ireland.<\/jats:p><jats:p>The <jats:italic>SLC19A1<\/jats:italic> c.80G&gt;A polymorphism was not strongly associated with either serum folate or homocysteine concentrations in either men or women. However, in women, but not in men, this polymorphism explained 5% of the variation in red blood cell (RBC) folate levels (<jats:italic>P<\/jats:italic>= 0.02). Relative to women with the <jats:italic>SLC19A1<\/jats:italic> c.80GG genotype, women with the GA and AA genotypes had higher RBC folate concentrations. Consequently, compared to women with the <jats:italic>SLC19A1<\/jats:italic> c.80GA and AA genotypes, women who are homozygous for the 80G allele may be at increased risk of having a child affected with a neural tube defect and of developing pathologies that have been associated with folate insufficiency, such as cardiovascular disease.<\/jats:p>","DOI":"10.1111\/j.1469-1809.2009.00529.x","type":"journal-article","created":{"date-parts":[[2009,7,29]],"date-time":"2009-07-29T06:26:34Z","timestamp":1248848794000},"page":"484-491","source":"Crossref","is-referenced-by-count":43,"title":["The Reduced Folate Carrier (<i>SLC19A1<\/i>) c.80G&gt;A Polymorphism is Associated with Red Cell Folate Concentrations Among Women"],"prefix":"10.1111","volume":"73","author":[{"given":"Anna","family":"Stanis\u0142awska\u2010Sachadyn","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura E.","family":"Mitchell","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jayne V.","family":"Woodside","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter T.","family":"Buckley","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carmel","family":"Kealey","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ian S.","family":"Young","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John M.","family":"Scott","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Liam","family":"Murray","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Colin A.","family":"Boreham","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Helene","family":"McNulty","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J. 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