Differential Parental Transmission of Markers in BCL3 among Korean Cleft Case-parent Trios.
10.3961/jpmph.2009.42.1.1
- Author:
Beyoung Yun PARK
1
;
Jae Woong SULL
;
Jung Yong PARK
;
Sun Ha JEE
;
Terri H BEATY
Author Information
1. Yonsei University School of Medicine, Seoul, Korea.
- Publication Type:Original Article ; Research Support, Non-U.S. Gov't
- Keywords:
BCL3;
Oral cleft;
Maternal transmission effects;
Parent-of-origin
- MeSH:
Adolescent;
Adult;
Algorithms;
Alleles;
Chi-Square Distribution;
Child;
Child, Preschool;
Chromosomes, Human, Pair 19/genetics;
Cleft Lip/*genetics;
Cleft Palate/*genetics;
Female;
Genetic Markers;
Genetic Predisposition to Disease;
Genotype;
Haplotypes;
Humans;
Infant;
Korea;
Male;
Monte Carlo Method;
Odds Ratio;
Polymorphism, Single Nucleotide/*genetics;
Risk Factors;
Young Adult
- From:Journal of Preventive Medicine and Public Health
2009;42(1):1-4
- CountryRepublic of Korea
- Language:English
-
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.
