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Differential parental transmission of markers in BCL3 among Korean cleft case-parent trios

DC FieldValueLanguage
dc.contributor.author박병윤-
dc.contributor.author설재웅-
dc.contributor.author지선하-
dc.date.accessioned2015-04-24T16:33:22Z-
dc.date.available2015-04-24T16:33:22Z-
dc.date.issued2009-
dc.identifier.issn2545-5985-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/103734-
dc.description.abstractOBJECTIVES: Isolated cleft lip with or without cleft palate (CL/P) is among the most common human birth defects, with a prevalence of approximately 1 in 700 live births. The B-Cell Leukemia/lymphoma 3 (BCL3) gene has been suggested as a candidate gene for CL/P based on association and linkage studies in some populations. This study tests for an association between markers in BCL3 and isolated, non-syndromic CL/P using a case-parent trio design, while considering parent-of-origin effects. METHODS: Forty case-parent trios were genotyped for two single nucleotide polymorphisms (SNPs) in the BCL3 gene. We performed a transmission disequilibrium test (TDT) on individual SNPs, and the FAMHAP package was used to estimate haplotype frequencies and to test for excess transmission of multi-SNP haplotypes. RESULTS: The odds ratio for transmission of the minor allele, OR (transmission), was significant for SNP rs8100239 (OR=3.50, p=0.004) and rs2965169 (OR=2.08, p=0.027) when parent-of-origin was not considered. Parent-specific TDT revealed that SNP rs8100239 showed excess maternal transmission. Analysis of haplotypes of rs2965169 and rs8100239 also suggested excess maternal transmission. CONCLUSIONS: BCL3 appears to influence risk of CL/P through a parent-of-origin effect with excess maternal transmission.-
dc.description.statementOfResponsibilityopen-
dc.format.extent1~4-
dc.relation.isPartOfJournal of Preventive Medicine and Public Health-
dc.rightsCC BY-NC-ND 2.0 KR-
dc.rights.urihttps://creativecommons.org/licenses/by-nc-nd/2.0/kr/-
dc.subject.MESHAdolescent-
dc.subject.MESHAdult-
dc.subject.MESHAlgorithms-
dc.subject.MESHAlleles-
dc.subject.MESHChi-Square Distribution-
dc.subject.MESHChild-
dc.subject.MESHChild, Preschool-
dc.subject.MESHChromosomes, Human, Pair 19/genetics-
dc.subject.MESHCleftLip/genetics*-
dc.subject.MESHCleftPalate/genetics*-
dc.subject.MESHFemale-
dc.subject.MESHGeneticMarkers-
dc.subject.MESHGenetic Predisposition to Disease-
dc.subject.MESHGenotype-
dc.subject.MESHHaplotypes-
dc.subject.MESHHumans-
dc.subject.MESHInfant-
dc.subject.MESHKorea-
dc.subject.MESHMale-
dc.subject.MESHMonte Carlo Method-
dc.subject.MESHOdds Ratio-
dc.subject.MESHPolymorphism, Single Nucleotide/genetics*-
dc.subject.MESHRisk Factors-
dc.subject.MESHYoung Adult-
dc.titleDifferential parental transmission of markers in BCL3 among Korean cleft case-parent trios-
dc.typeArticle-
dc.contributor.collegeGraduate School of Public Health (보건대학원)-
dc.contributor.departmentGraduate School of Public Health (보건대학원)-
dc.contributor.googleauthorBeyoung Yun Park-
dc.contributor.googleauthorJae Woong Sull-
dc.contributor.googleauthorJung Yong Park-
dc.contributor.googleauthorSun Ha Jee-
dc.contributor.googleauthorTerri H Beaty-
dc.identifier.doi10.3961/jpmph.2009.42.1.1-
dc.admin.authorfalse-
dc.admin.mappingfalse-
dc.contributor.localIdA01476-
dc.contributor.localIdA01942-
dc.contributor.localIdA03965-
dc.relation.journalcodeJ01716-
dc.identifier.pmid19229118-
dc.subject.keywordBCL3-
dc.subject.keywordOral cleft-
dc.subject.keywordMaternal transmission effects-
dc.subject.keywordParent-of-origin-
dc.contributor.alternativeNamePark, Beyoung Yun-
dc.contributor.alternativeNameSull, Jae Woong-
dc.contributor.alternativeNameJee, Sun Ha-
dc.contributor.affiliatedAuthorPark, Beyoung Yun-
dc.contributor.affiliatedAuthorSull, Jae Woong-
dc.contributor.affiliatedAuthorJee, Sun Ha-
dc.citation.volume42-
dc.citation.number1-
dc.citation.startPage1-
dc.citation.endPage4-
dc.identifier.bibliographicCitationJournal of Preventive Medicine and Public Health, Vol.42(1) : 1-4, 2009-
dc.identifier.rimsid36658-
dc.type.rimsART-
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Plastic and Reconstructive Surgery (성형외과학교실) > 1. Journal Papers
4. Graduate School of Public Health (보건대학원) > Graduate School of Public Health (보건대학원) > 1. Journal Papers

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