Journal of Preventive Medicine and Public Health  2009;42(1):1-4

doi:10.3961/jpmph.2009.42.1.1

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

Beyoung Yun PARK 1 ; Jae Woong SULL ; Jung Yong PARK ; Sun Ha JEE ; Terri H BEATY

Affiliations

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Keywords

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

Country

Republic of Korea

Language

English

MeSH

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.