Differential parental transmission of markers in BCL3 among Korean cleft case-parent trios

Beyoung Yun Park, Jae Woong Sull, Jung Yong Park, Sun Ha Jee, Terri H. Beaty

Research output: Contribution to journalArticle

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.

Original languageEnglish (US)
Pages (from-to)1-4
Number of pages4
JournalJournal of Preventive Medicine and Public Health
Volume42
Issue number1
DOIs
StatePublished - Jan 1 2009

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Keywords

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

ASJC Scopus subject areas

  • Public Health, Environmental and Occupational Health

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