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dc.contributor.authorMOLLOY, ANNEen
dc.date.accessioned2015-12-09T11:29:53Z
dc.date.available2015-12-09T11:29:53Z
dc.date.issued2012en
dc.date.submitted2012en
dc.identifier.citationMinguzzi S, Molloy AM, Peadar K, Mills J, Scott JM, Troendle J, Pangilinan F, Brody L, Parle-McDermott A, Genotyping of a tri-allelic polymorphism by a novel melting curve assay in MTHFD1L: an association study of nonsyndromic Cleft in Ireland., BMC medical genetics, 13, 2012, 29en
dc.identifier.issn1471-2350en
dc.identifier.otherYen
dc.identifier.urihttp://hdl.handle.net/2262/75128
dc.descriptionPUBLISHEDen
dc.description.abstractBackground: Polymorphisms within the MTHFD1L gene were previously associated with risk of neural tube defects in Ireland. We sought to test the most significant MTHFD1L 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 MTHFD1L triallelic deletion/insertion polymorphism (rs3832406). Methods: Melting curve analysis was used to genotype the MTHFD1L 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. Results: 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. Conclusions: Melting Curve Analysis can be employed to successfully genotype challenging polymorphisms such as the MTHFD1L triallelic deletion/insertion polymorphism (DIP) reported here (rs3832406) and is a viable alternative to capillary electrophoresis. Corrected p-values indicate no association between MTHFD1L and risk of cleft in an Irish cohorten
dc.description.sponsorshipThis work was supported by the IRCSET Embark initiative. The authors sincerely thank all the patients and families who participated in the study, the Cleft Lip and Palate Association of Ireland, and the Dublin Cleft Centre team. Recruitment of the Irish cleft cohort was supported by the Intramural Research Program of the Eunice Kennedy Shriver National Institute of Child Health and Human Development and the Health Research Board of Ireland.en
dc.format.extent29en
dc.relation.ispartofseriesBMC medical geneticsen
dc.relation.ispartofseries13en
dc.rightsYen
dc.subjectMTHFD1L geneen
dc.subject.lcshMTHFD1L geneen
dc.titleGenotyping of a tri-allelic polymorphism by a novel melting curve assay in MTHFD1L: an association study of nonsyndromic Cleft in Ireland.en
dc.typeJournal Articleen
dc.type.supercollectionscholarly_publicationsen
dc.type.supercollectionrefereed_publicationsen
dc.identifier.peoplefinderurlhttp://people.tcd.ie/amolloyen
dc.identifier.rssinternalid84419en
dc.identifier.doihttp://dx.doi.org/10.1186/1471-2350-13-29en
dc.rights.ecaccessrightsopenAccess
dc.subject.TCDThemeGenes & Societyen
dc.identifier.orcid_id0000-0002-1688-9049en


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