title: Differential parental transmission of markers in BCL3 among Korean cleft case-parent trios.
abstract: OBJECTIVE
  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.
authors.affiliation: Yonsei University School of Medicine, Seoul, Korea.
authors.forename: Beyoung Yun
authors.initials: BY
authors.lastname: Park
authors.forename: Jae Woong
authors.initials: JW
authors.lastname: Sull
authors.forename: Jung Yong
authors.initials: JY
authors.lastname: Park
authors.forename: Sun Ha
authors.initials: SH
authors.lastname: Jee
authors.forename: Terri H
authors.initials: TH
authors.lastname: Beaty
mesh_terms: D000293:Adolescent; D000328:Adult; D000465:Algorithms; D000483:Alleles; D016009:Chi-Square Distribution; D002648:Child; D002675:Child, Preschool; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D005260:Female; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D007223:Infant; D007723:Korea; D008297:Male; D009010:Monte Carlo Method; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D012307:Risk Factors; D055815:Young Adult
chemical_list: D005819:Genetic Markers