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X-linked markers in the Duchenne muscular dystrophy gene associated with oral clefts

DC Field Value Language
dc.contributor.author지선하-
dc.date.accessioned2014-12-18T08:54:51Z-
dc.date.available2014-12-18T08:54:51Z-
dc.date.issued2013-
dc.identifier.issn0909-8836-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/87184-
dc.description.abstractAs part of an international consortium, case-parent trios were collected for a genome-wide association study of isolated, non-syndromic oral clefts, including cleft lip (CL), cleft palate (CP), and cleft lip and palate (CLP). Non-syndromic oral clefts have a complex and heterogeneous etiology. Risk is influenced by genes and environmental factors, and differs markedly by gender. Family-based association tests (FBAT) were used on 14,486 single nucleotide polymorphisms (SNPs) spanning the X chromosome, stratified by type of cleft and racial group. Significant results, even after multiple-comparisons correction, were obtained for the Duchenne muscular dystrophy (DMD) gene, the largest single gene in the human genome, among CL/P (i.e., both CL and CLP combined) trios. When stratified into groups of European and Asian ancestry, stronger signals were obtained for Asian subjects. Although conventional sliding-window haplotype analysis showed no increase in significance, selected combinations of the 25 most significant SNPs in the DMD gene identified four SNPs together that attained genome-wide significance among Asian CL/P trios, raising the possibility of interaction between distant SNPs within the DMD gene.-
dc.description.statementOfResponsibilityopen-
dc.relation.isPartOfEUROPEAN JOURNAL OF ORAL SCIENCES-
dc.rightsCC BY-NC-ND 2.0 KR-
dc.rights.urihttps://creativecommons.org/licenses/by-nc-nd/2.0/kr/-
dc.subject.MESHAdult-
dc.subject.MESHAsian Continental Ancestry Group/genetics*-
dc.subject.MESHCleft Lip/genetics*-
dc.subject.MESHCleft Palate/genetics*-
dc.subject.MESHEuropean Continental Ancestry Group/genetics*-
dc.subject.MESHFemale-
dc.subject.MESHGenes, X-Linked/physiology*-
dc.subject.MESHGenetic Markers*-
dc.subject.MESHGenome-Wide Association Study/methods-
dc.subject.MESHHaplotypes/genetics-
dc.subject.MESHHaplotypes/physiology-
dc.subject.MESHHumans-
dc.subject.MESHMale-
dc.subject.MESHMuscular Dystrophy, Duchenne/genetics*-
dc.subject.MESHPolymorphism, Single Nucleotide-
dc.subject.MESHPrincipal Component Analysis-
dc.subject.MESHRisk-
dc.titleX-linked markers in the Duchenne muscular dystrophy gene associated with oral clefts-
dc.typeArticle-
dc.contributor.collegeGraduate School of Public Health (보건대학원)-
dc.contributor.departmentGraduate School of Public Health (보건대학원)-
dc.contributor.googleauthorPoorav J. Patel-
dc.contributor.googleauthorTerri H. Beaty-
dc.contributor.googleauthorIngo Ruczinski-
dc.contributor.googleauthorJeffrey C. Murray-
dc.contributor.googleauthorMary L. Marazita-
dc.contributor.googleauthorRonald G. Munger-
dc.contributor.googleauthorJacqueline B. Hetmanski-
dc.contributor.googleauthorTao Wu-
dc.contributor.googleauthorTanda Murray-
dc.contributor.googleauthorMargaret Rose-
dc.contributor.googleauthorRichard J. Redett-
dc.contributor.googleauthorSheng C. Jin-
dc.contributor.googleauthorRolv T. Lie-
dc.contributor.googleauthorYah-Huei Wu-Chou-
dc.contributor.googleauthorHong Wang-
dc.contributor.googleauthorXiaoqian Ye-
dc.contributor.googleauthorVincent Yeow-
dc.contributor.googleauthorSamuel Chong-
dc.contributor.googleauthorSun H. Jee-
dc.contributor.googleauthorBing Shi-
dc.contributor.googleauthorAlan F. Scott-
dc.identifier.doi10.1111/eos.12025-
dc.admin.authorfalse-
dc.admin.mappingfalse-
dc.contributor.localIdA03965-
dc.relation.journalcodeJ00836-
dc.identifier.eissn1600-0722-
dc.identifier.pmid23489894-
dc.subject.keywordcase-parent trios-
dc.subject.keywordDuchenne muscular dystrophy(DMD)-
dc.subject.keywordfamily-based association-
dc.subject.keywordoral clefts-
dc.subject.keywordX-linked-
dc.contributor.alternativeNameJee, Sun Ha-
dc.contributor.affiliatedAuthorJee, Sun Ha-
dc.rights.accessRightsfree-
dc.citation.volume121-
dc.citation.number2-
dc.citation.startPage63-
dc.citation.endPage68-
dc.identifier.bibliographicCitationEUROPEAN JOURNAL OF ORAL SCIENCES, Vol.121(2) : 63-68, 2013-
dc.identifier.rimsid32542-
dc.type.rimsART-
Appears in Collections:
4. Graduate School of Public Health (보건대학원) > Graduate School of Public Health (보건대학원) > 1. Journal Papers

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