Cited 9 times in
X-linked markers in the Duchenne muscular dystrophy gene associated with oral clefts
DC Field | Value | Language |
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dc.contributor.author | 지선하 | - |
dc.date.accessioned | 2014-12-18T08:54:51Z | - |
dc.date.available | 2014-12-18T08:54:51Z | - |
dc.date.issued | 2013 | - |
dc.identifier.issn | 0909-8836 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/87184 | - |
dc.description.abstract | As 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.statementOfResponsibility | open | - |
dc.relation.isPartOf | EUROPEAN JOURNAL OF ORAL SCIENCES | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.rights.uri | https://creativecommons.org/licenses/by-nc-nd/2.0/kr/ | - |
dc.subject.MESH | Adult | - |
dc.subject.MESH | Asian Continental Ancestry Group/genetics* | - |
dc.subject.MESH | Cleft Lip/genetics* | - |
dc.subject.MESH | Cleft Palate/genetics* | - |
dc.subject.MESH | European Continental Ancestry Group/genetics* | - |
dc.subject.MESH | Female | - |
dc.subject.MESH | Genes, X-Linked/physiology* | - |
dc.subject.MESH | Genetic Markers* | - |
dc.subject.MESH | Genome-Wide Association Study/methods | - |
dc.subject.MESH | Haplotypes/genetics | - |
dc.subject.MESH | Haplotypes/physiology | - |
dc.subject.MESH | Humans | - |
dc.subject.MESH | Male | - |
dc.subject.MESH | Muscular Dystrophy, Duchenne/genetics* | - |
dc.subject.MESH | Polymorphism, Single Nucleotide | - |
dc.subject.MESH | Principal Component Analysis | - |
dc.subject.MESH | Risk | - |
dc.title | X-linked markers in the Duchenne muscular dystrophy gene associated with oral clefts | - |
dc.type | Article | - |
dc.contributor.college | Graduate School of Public Health (보건대학원) | - |
dc.contributor.department | Graduate School of Public Health (보건대학원) | - |
dc.contributor.googleauthor | Poorav J. Patel | - |
dc.contributor.googleauthor | Terri H. Beaty | - |
dc.contributor.googleauthor | Ingo Ruczinski | - |
dc.contributor.googleauthor | Jeffrey C. Murray | - |
dc.contributor.googleauthor | Mary L. Marazita | - |
dc.contributor.googleauthor | Ronald G. Munger | - |
dc.contributor.googleauthor | Jacqueline B. Hetmanski | - |
dc.contributor.googleauthor | Tao Wu | - |
dc.contributor.googleauthor | Tanda Murray | - |
dc.contributor.googleauthor | Margaret Rose | - |
dc.contributor.googleauthor | Richard J. Redett | - |
dc.contributor.googleauthor | Sheng C. Jin | - |
dc.contributor.googleauthor | Rolv T. Lie | - |
dc.contributor.googleauthor | Yah-Huei Wu-Chou | - |
dc.contributor.googleauthor | Hong Wang | - |
dc.contributor.googleauthor | Xiaoqian Ye | - |
dc.contributor.googleauthor | Vincent Yeow | - |
dc.contributor.googleauthor | Samuel Chong | - |
dc.contributor.googleauthor | Sun H. Jee | - |
dc.contributor.googleauthor | Bing Shi | - |
dc.contributor.googleauthor | Alan F. Scott | - |
dc.identifier.doi | 10.1111/eos.12025 | - |
dc.admin.author | false | - |
dc.admin.mapping | false | - |
dc.contributor.localId | A03965 | - |
dc.relation.journalcode | J00836 | - |
dc.identifier.eissn | 1600-0722 | - |
dc.identifier.pmid | 23489894 | - |
dc.subject.keyword | case-parent trios | - |
dc.subject.keyword | Duchenne muscular dystrophy(DMD) | - |
dc.subject.keyword | family-based association | - |
dc.subject.keyword | oral clefts | - |
dc.subject.keyword | X-linked | - |
dc.contributor.alternativeName | Jee, Sun Ha | - |
dc.contributor.affiliatedAuthor | Jee, Sun Ha | - |
dc.rights.accessRights | free | - |
dc.citation.volume | 121 | - |
dc.citation.number | 2 | - |
dc.citation.startPage | 63 | - |
dc.citation.endPage | 68 | - |
dc.identifier.bibliographicCitation | EUROPEAN JOURNAL OF ORAL SCIENCES, Vol.121(2) : 63-68, 2013 | - |
dc.identifier.rimsid | 32542 | - |
dc.type.rims | ART | - |
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