Differential parental transmission of markers in BCL3 among Korean cleft case-parent trios.
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.
Park
Beyoung Yun
BY
Yonsei University School of Medicine, Seoul, Korea.
Sull
Jae Woong
JW
Park
Jung Yong
JY
Jee
Sun Ha
SH
Beaty
Terri H
TH
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
D005819:Genetic Markers