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

다국어 초록 (Multilingual 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. Parentspecific
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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