{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,9,23]],"date-time":"2023-09-23T18:04:54Z","timestamp":1695492294558},"reference-count":29,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2012,4,20]],"date-time":"2012-04-20T00:00:00Z","timestamp":1334880000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Med Genet"],"published-print":{"date-parts":[[2012,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:sec>\n            <jats:title>Background<\/jats:title>\n            <jats:p>Polymorphisms within the <jats:italic>MTHFD1L<\/jats:italic> gene were previously associated with risk of neural tube defects in Ireland. We sought to test the most significant <jats:italic>MTHFD1L<\/jats:italic> polymorphisms for an association with risk of cleft in an Irish cohort. This required the development of a new melting curve assay to genotype the technically challenging <jats:italic>MTHFD1L<\/jats:italic> triallelic deletion\/insertion polymorphism (rs3832406).<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Methods<\/jats:title>\n            <jats:p>Melting curve analysis was used to genotype the <jats:italic>MTHFD1L<\/jats:italic> triallelic deletion\/insertion polymorphism (rs3832406) and a Single Nucleotide Polymorphism rs17080476 in an Irish cohort consisting of 981 Irish case-parent trios and 1,008 controls. Tests for association with nonsyndromic cleft lip with or without cleft palate and cleft palate included case\/control analysis, mother\/control analysis and Transmission Disequilibrium Tests of case-parent trios.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Results<\/jats:title>\n            <jats:p>A successful melting curve genotyping assay was developed for the deletion\/insertion polymorphism (rs3832406). The TDT analysis initially showed that the rs3832406 polymorphism was associated with isolated cleft lip with or without cleft palate. However, corrected p-values indicated that this association was not significant.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusions<\/jats:title>\n            <jats:p>Melting Curve Analysis can be employed to successfully genotype challenging polymorphisms such as the <jats:italic>MTHFD1L<\/jats:italic> triallelic deletion\/insertion polymorphism (DIP) reported here (rs3832406) and is a viable alternative to capillary electrophoresis. Corrected p-values indicate no association between <jats:italic>MTHFD1L<\/jats:italic> and risk of cleft in an Irish cohort.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1186\/1471-2350-13-29","type":"journal-article","created":{"date-parts":[[2012,4,20]],"date-time":"2012-04-20T14:14:35Z","timestamp":1334931275000},"update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Genotyping of a tri-allelic polymorphism by a novel melting curve assay in MTHFD1L: an association study of nonsyndromic Cleft in Ireland"],"prefix":"10.1186","volume":"13","author":[{"given":"Stefano","family":"Minguzzi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne M","family":"Molloy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kirke","family":"Peadar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James","family":"Mills","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John M","family":"Scott","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James","family":"Troendle","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Faith","family":"Pangilinan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lawrence","family":"Brody","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne","family":"Parle-McDermott","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2012,4,20]]},"reference":[{"key":"944_CR1","doi-asserted-by":"publisher","first-page":"440","DOI":"10.1002\/ajmg.a.32162","volume":"146","author":"AL Boyles","year":"2008","unstructured":"Boyles AL, Wilcox AJ, Taylor JA, Meyer K, Fredriksen A, Ueland PM, Drevon CA, Vollset SE, Lie RT: Folate and one-carbon metabolism gene polymorphisms and their associations with oral facial clefts. 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