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Excess maternal transmission of markers in TCOF1 among cleft palate case-parent trios from three populations

DC Field Value Language
dc.contributor.author설재웅-
dc.contributor.author지선하-
dc.date.accessioned2015-05-19T16:31:50Z-
dc.date.available2015-05-19T16:31:50Z-
dc.date.issued2008-
dc.identifier.issn0250-8095-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/106476-
dc.description.abstractIsolated cleft palate is among the most common human birth defects. The TCOF1 gene has been suggested as a candidate gene for cleft palate based on animal models. This study tests for association between markers in TCOF1 and isolated, nonsyndromic cleft palate using a case-parent trio design considering parent-of-origin effects. Case-parent trios from three populations (comprising a total of 81 case-parent trios) were genotyped for single nucleotide polymorphisms (SNPs) in the TCOF1 gene. We used the transmission disequilibrium test and the transmission asymmetry test on individual SNPs. When all trios were combined, the odds ratio for transmission of the minor allele, OR(transmission), was significant for SNP rs15251 (OR = 2.88, P = 0.007), as well as rs2255796 and rs2569062 (OR = 2.08, P = 0.03; OR = 2.43, P = 0.041; respectively) when parent of origin was not considered. The transmission asymmetry test also revealed one SNP (rs15251) showing excess maternal transmission significant at the P = 0.005 level (OR = 6.50). Parent-of-origin effects were assessed using the parent-of-origin likelihood ratio test on both SNPs and haplotypes. While the parent-of-origin likelihood ratio test was only marginally significant for this SNP (P = 0.136), analysis of haplotypes of rs2255796 and rs15251 suggested excess maternal transmission. Therefore, these data suggest TCOF1 may influence risk of cleft palate through a parent-of-origin effect.-
dc.description.statementOfResponsibilityopen-
dc.format.extent2327~2331-
dc.relation.isPartOfAMERICAN JOURNAL OF NEPHROLOGY-
dc.rightsCC BY-NC-ND 2.0 KR-
dc.rights.urihttps://creativecommons.org/licenses/by-nc-nd/2.0/kr/-
dc.subject.MESHChi-Square Distribution-
dc.subject.MESHCleft Palate/epidemiology-
dc.subject.MESHCleft Palate/genetics*-
dc.subject.MESHFemale-
dc.subject.MESHGene Frequency-
dc.subject.MESHGenetic Markers-
dc.subject.MESHGenomic Imprinting*-
dc.subject.MESHHaplotypes-
dc.subject.MESHHumans-
dc.subject.MESHLikelihood Functions-
dc.subject.MESHLinkage Disequilibrium-
dc.subject.MESHMale-
dc.subject.MESHMaryland/epidemiology-
dc.subject.MESHNuclear Proteins/genetics*-
dc.subject.MESHPhosphoproteins/genetics*-
dc.subject.MESHPolymorphism, Single Nucleotide*-
dc.subject.MESHRisk Factors-
dc.subject.MESHSingapore/epidemiology-
dc.subject.MESHTaiwan/epidemiology-
dc.titleExcess maternal transmission of markers in TCOF1 among cleft palate case-parent trios from three populations-
dc.typeArticle-
dc.contributor.collegeGraduate School of Public Health (보건대학원)-
dc.contributor.departmentGraduate School of Public Health (보건대학원)-
dc.contributor.googleauthorJae Woong Sull-
dc.contributor.googleauthorKung-Yee Liang-
dc.contributor.googleauthorJacqueline B. Hetmanski-
dc.contributor.googleauthorM. Daniele Fallin-
dc.contributor.googleauthorRoxanne G. Ingersoll-
dc.contributor.googleauthorJi Wan Park-
dc.contributor.googleauthorYah-Huei Wu-Chou-
dc.contributor.googleauthorPhilip K. Chen-
dc.contributor.googleauthorSamuel S. Chong-
dc.contributor.googleauthorFelicia Cheah-
dc.contributor.googleauthorVincent Yeow-
dc.contributor.googleauthorBeyoung Yun Park-
dc.contributor.googleauthorSun Ha Jee-
dc.contributor.googleauthorEthylin W. Jabs-
dc.contributor.googleauthorRichard Redett-
dc.contributor.googleauthorAlan F. Scott-
dc.contributor.googleauthorTerri H. Beaty-
dc.identifier.doi10.1002/ajmg.a.32302-
dc.admin.authorfalse-
dc.admin.mappingfalse-
dc.contributor.localIdA01942-
dc.contributor.localIdA03965-
dc.relation.journalcodeJ00094-
dc.identifier.eissn1421-9670-
dc.identifier.pmid18688869-
dc.subject.keywordTCOF1-
dc.subject.keywordoral cleft palate-
dc.subject.keywordmaternal transmission effects-
dc.subject.keywordparent‐of‐origin-
dc.contributor.alternativeNameSull, Jae Woong-
dc.contributor.alternativeNameJee, Sun Ha-
dc.contributor.affiliatedAuthorSull, Jae Woong-
dc.contributor.affiliatedAuthorJee, Sun Ha-
dc.rights.accessRightsfree-
dc.citation.volume146A-
dc.citation.number18-
dc.citation.startPage2327-
dc.citation.endPage2331-
dc.identifier.bibliographicCitationAMERICAN JOURNAL OF NEPHROLOGY, Vol.146A(18) : 2327-2331, 2008-
dc.identifier.rimsid45946-
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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