Show simple item record

dc.contributor.authorMOLLOY, ANNE MARIE
dc.date.accessioned2009-11-04T09:27:43Z
dc.date.available2009-11-04T09:27:43Z
dc.date.issued2008
dc.date.submitted2008en
dc.identifier.citationJ.L. Mills, A.M. Molloy, A. Parle-McDermott, J.F. Troendle, L.C. Brody, M.R. Conley, C. Cox, F. Pangilinan, D.J. Orr, M. Earley, E. McKiernan, E.C. Lynn, A. Doyle, J.M. Scott, P.N. Kirke `Folate-related gene polymorphisms as risk factors for cleft lip and cleft palate? Birth Defects Research Part A Clinical and Molecular Teratology, 82, (9), 2008, pp 636 - 643en
dc.identifier.otherY
dc.identifier.other56619
dc.descriptionPUBLISHEDen
dc.description.abstractBACKGROUND?Cleft lip with or without cleft palate (CLP) and cleft palate only (CPO) have an inherited component and, many studies suggest, a relationship with folate. Attempts to find folaterelated genes associated with clefts have, however, often been inconclusive. This study examined four SNPs related to folate metabolism (MTHFR 677 C?T, MTHFR 1298 A?C, MTHFD1 1958 G?A, and TC II 776 C?G) in a large Irish population to clarify their relationship with clefts. METHODS?Cases and their parents were recruited from major surgical centers performing cleft repairs in Ireland and a support organization. Data on risk factors, medical history, and DNA were collected. Controls were pregnant women from the greater Dublin area (n = 1,599). RESULTS?CLP cases numbered 536 and CPO cases 426 after exclusions. CPO mothers were significantly more likely than controls to be MTHFR 677 TT, OR 1.50 (95% CI: 1.05?2.16; p = .03). Log-linear analysis showed a borderline association (p = .07). Isolated CPO case mothers were significantly more likely than controls to be homozygous for the MTHFD1 1958 G?A variant, OR 1.50 (95%CI: 1.08?2.09; p = .02). When multiple cases were added, both CPO cases and case mothers were significantly more likely to be AA (p = .02 and p = .007, respectively). The CLP case-control and mother-control analyses also showed significant effects, ORs 1.38 (95% CI: 1.05?1.82; p = .03) and 1.39 (95% CI: 1.04?1.85; p = .03), respectively. CONCLUSIONS?Associations were found for both CPO and CLP and MTHFD1 1958 G?A in cases and case mothers. MTHFR 677 C?T could be a maternal risk factor for clefts but the association was not strong. Because multiple comparisons were made, these findings require additional investigation. Given the known association between MTHFD1 1958 G?A and NTDs, these findings should be explored in more detail.en
dc.description.sponsorshipThis work was supported by the Intramural Research Programs of NICHD and NHGRIen
dc.format.extent353305 bytes
dc.format.extent636en
dc.format.extent643en
dc.format.mimetypeapplication/pdf
dc.language.isoenen
dc.publisherJohn Wileyen
dc.relation.ispartofseriesBirth Defects Research Part A Clinical and Molecular Teratology.en
dc.relation.ispartofseries82en
dc.relation.ispartofseries9en
dc.rightsYen
dc.subjectcleft lip; cleft palate; oral clefts; folate; folate genes; vitamin B12; transcobalamin geneen
dc.titleFolate-related gene polymorphisms as risk factors for cleft lip and cleft palate.en
dc.typeJournal Articleen
dc.type.supercollectionscholarly_publicationsen
dc.type.supercollectionrefereed_publicationsen
dc.identifier.peoplefinderurlhttp://people.tcd.ie/amolloy
dc.identifier.rssurihttp://dx.doi.org/10.1002/bdra.20491
dc.contributor.sponsorHealth Research Board
dc.identifier.urihttp://hdl.handle.net/2262/34488


Files in this item

Thumbnail
Thumbnail

This item appears in the following Collection(s)

Show simple item record