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KMID : 0371020090420010001
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Journal of Preventive Medicine and Public Health
2009 Volume.42 No. 1 p.1 ~ p.4
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Differential Parental Transmission of Markers in BCL3 among Korean Cleft Case-parent Trios
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Park Beyoung-Yun
Beaty Terri H.
Jee Sun-Ha
Sull Jae-Woong
Park Jung-Yong
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Abstract
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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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KEYWORD
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BCL3, Oral cleft, Maternal transmission effects, Parent-of-origin
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