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

 Beyoung Yun Park  ;  Jae Woong Sull  ;  Jung Yong Park  ;  Sun Ha Jee  ;  Terri H Beaty 
 Journal of Preventive Medicine and Public Health, Vol.42(1) : 1-4, 2009 
Journal Title
Journal of Preventive Medicine and Public Health
Issue Date
Adolescent ; Adult ; Algorithms ; Alleles ; Chi-Square Distribution ; Child ; Child, Preschool ; Chromosomes, Human, Pair 19/genetics ; CleftLip/genetics* ; CleftPalate/genetics* ; Female ; GeneticMarkers ; Genetic Predisposition to Disease ; Genotype ; Haplotypes ; Humans ; Infant ; Korea ; Male ; Monte Carlo Method ; Odds Ratio ; Polymorphism, Single Nucleotide/genetics* ; Risk Factors ; Young Adult
BCL3 ; Oral cleft ; Maternal transmission effects ; Parent-of-origin
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.
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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
Yonsei Authors
Park, Beyoung Yun(박병윤)
Sull, Jae Woong(설재웅)
Jee, Sun Ha(지선하) ORCID logo https://orcid.org/0000-0001-9519-3068
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