Vis enkel innførsel

dc.contributor.authorJugessur, Astananden_US
dc.contributor.authorSkare, Øivinden_US
dc.contributor.authorLie, Rolv Terjeen_US
dc.contributor.authorWilcox, Allen Jamesen_US
dc.contributor.authorChristensen, Kaareen_US
dc.contributor.authorChristiansen, Leneen_US
dc.contributor.authorNguyen, Truc Trungen_US
dc.contributor.authorMurray, Jeffrey Clarken_US
dc.contributor.authorGjessing, Håkon K.en_US
dc.date.accessioned2013-04-08T13:00:34Z
dc.date.available2013-04-08T13:00:34Z
dc.date.issued2012-06-19eng
dc.PublishedPLoS ONE 7(6): e39240eng
dc.identifier.issn1932-6203
dc.identifier.urihttps://hdl.handle.net/1956/6487
dc.description.abstractBackground: Orofacial clefts are common birth defects of complex etiology, with an excess of males among babies with cleft lip and palate, and an excess of females among those with cleft palate only. Although genes on the X chromosome have been implicated in clefting, there has been no association analysis of X-linked markers. Methodology/Principal Findings: We added new functionalities in the HAPLIN statistical software to enable association analysis of X-linked markers and an exploration of various causal scenarios relevant to orofacial clefts. Genotypes for 48 SNPs in 18 candidate genes on the X chromosome were analyzed in two population-based samples from Scandinavia (562 Norwegian and 235 Danish case-parent triads). For haplotype analysis, we used a sliding-window approach and assessed isolated cleft lip with or without cleft palate (iCL/P) separately from isolated cleft palate only (iCPO). We tested three statistical models in HAPLIN, allowing for: i) the same relative risk in males and females, ii) sex-specific relative risks, and iii) X-inactivation in females. We found weak but consistent associations with the oral-facial-digital syndrome 1 (OFD1) gene (formerly known as CXORF5) in the Danish iCL/P samples across all models, but not in the Norwegian iCL/P samples. In sex-specific analyses, the association with OFD1 was in male cases only. No analyses showed associations with iCPO in either the Norwegian or the Danish sample. Conclusions: The association of OFD1 with iCL/P is plausible given the biological relevance of this gene. However, the lack of replication in the Norwegian samples highlights the need to verify these preliminary findings in other large datasets. More generally, the novel analytic methods presented here are widely applicable to investigations of the role of X-linked genes in complex traits.en_US
dc.language.isoengeng
dc.publisherPublic Library of Scienceeng
dc.rightsAttribution CC BYeng
dc.rights.urihttp://creativecommons.org/licenses/by/2.5/eng
dc.titleX-Linked Genes and Risk of Orofacial Clefts: Evidence from Two Population-Based Studies in Scandinaviaen_US
dc.typePeer reviewed
dc.typeJournal article
dc.description.versionpublishedVersionen_US
dc.rights.holderCopyright 2012 Jugessur et al.
dc.identifier.doihttps://doi.org/10.1371/journal.pone.0039240
dc.identifier.cristin942812


Tilhørende fil(er)

Thumbnail

Denne innførselen finnes i følgende samling(er)

Vis enkel innførsel

Attribution CC BY
Med mindre annet er angitt, så er denne innførselen lisensiert som Attribution CC BY