Cited 14 times in
Differential parental transmission of markers in BCL3 among Korean cleft case-parent trios
DC Field | Value | Language |
---|---|---|
dc.contributor.author | 박병윤 | - |
dc.contributor.author | 설재웅 | - |
dc.contributor.author | 지선하 | - |
dc.date.accessioned | 2015-04-24T16:33:22Z | - |
dc.date.available | 2015-04-24T16:33:22Z | - |
dc.date.issued | 2009 | - |
dc.identifier.issn | 2545-5985 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/103734 | - |
dc.description.abstract | OBJECTIVES: 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.statementOfResponsibility | open | - |
dc.format.extent | 1~4 | - |
dc.relation.isPartOf | Journal of Preventive Medicine and Public Health | - |
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 | Adolescent | - |
dc.subject.MESH | Adult | - |
dc.subject.MESH | Algorithms | - |
dc.subject.MESH | Alleles | - |
dc.subject.MESH | Chi-Square Distribution | - |
dc.subject.MESH | Child | - |
dc.subject.MESH | Child, Preschool | - |
dc.subject.MESH | Chromosomes, Human, Pair 19/genetics | - |
dc.subject.MESH | CleftLip/genetics* | - |
dc.subject.MESH | CleftPalate/genetics* | - |
dc.subject.MESH | Female | - |
dc.subject.MESH | GeneticMarkers | - |
dc.subject.MESH | Genetic Predisposition to Disease | - |
dc.subject.MESH | Genotype | - |
dc.subject.MESH | Haplotypes | - |
dc.subject.MESH | Humans | - |
dc.subject.MESH | Infant | - |
dc.subject.MESH | Korea | - |
dc.subject.MESH | Male | - |
dc.subject.MESH | Monte Carlo Method | - |
dc.subject.MESH | Odds Ratio | - |
dc.subject.MESH | Polymorphism, Single Nucleotide/genetics* | - |
dc.subject.MESH | Risk Factors | - |
dc.subject.MESH | Young Adult | - |
dc.title | Differential parental transmission of markers in BCL3 among Korean cleft case-parent trios | - |
dc.type | Article | - |
dc.contributor.college | Graduate School of Public Health (보건대학원) | - |
dc.contributor.department | Graduate School of Public Health (보건대학원) | - |
dc.contributor.googleauthor | Beyoung Yun Park | - |
dc.contributor.googleauthor | Jae Woong Sull | - |
dc.contributor.googleauthor | Jung Yong Park | - |
dc.contributor.googleauthor | Sun Ha Jee | - |
dc.contributor.googleauthor | Terri H Beaty | - |
dc.identifier.doi | 10.3961/jpmph.2009.42.1.1 | - |
dc.admin.author | false | - |
dc.admin.mapping | false | - |
dc.contributor.localId | A01476 | - |
dc.contributor.localId | A01942 | - |
dc.contributor.localId | A03965 | - |
dc.relation.journalcode | J01716 | - |
dc.identifier.pmid | 19229118 | - |
dc.subject.keyword | BCL3 | - |
dc.subject.keyword | Oral cleft | - |
dc.subject.keyword | Maternal transmission effects | - |
dc.subject.keyword | Parent-of-origin | - |
dc.contributor.alternativeName | Park, Beyoung Yun | - |
dc.contributor.alternativeName | Sull, Jae Woong | - |
dc.contributor.alternativeName | Jee, Sun Ha | - |
dc.contributor.affiliatedAuthor | Park, Beyoung Yun | - |
dc.contributor.affiliatedAuthor | Sull, Jae Woong | - |
dc.contributor.affiliatedAuthor | Jee, Sun Ha | - |
dc.citation.volume | 42 | - |
dc.citation.number | 1 | - |
dc.citation.startPage | 1 | - |
dc.citation.endPage | 4 | - |
dc.identifier.bibliographicCitation | Journal of Preventive Medicine and Public Health, Vol.42(1) : 1-4, 2009 | - |
dc.identifier.rimsid | 36658 | - |
dc.type.rims | ART | - |
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