J Prev Med Public Health.  2009 Jan;42(1):1-4. 10.3961/jpmph.2009.42.1.1.

Differential Parental Transmission of Markers in BCL3 among Korean Cleft Case-parent Trios

• Park BY
• Sull JW
• Park JY
• Jee SH
• Beaty TH

• KMID: 792601
• DOI: http://doi.org/10.3961/jpmph.2009.42.1.1

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.

Keyword

BCL3; Oral cleft; Maternal transmission effects; Parent-of-origin

MeSH Terms

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