Differential Parental Transmission of Markers in BCL3 among Korean Cleft Case-parent Trios / 예방의학회지
Journal of Preventive Medicine and Public Health
;
: 1-4, 2009.
Article
in English
| WPRIM
| ID: wpr-95332
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. 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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Algorithms
/
Chromosomes, Human, Pair 19
/
Haplotypes
/
Genetic Markers
/
Chi-Square Distribution
/
Odds Ratio
/
Monte Carlo Method
/
Risk Factors
/
Cleft Lip
/
Cleft Palate
Type of study:
Etiology study
/
Health economic evaluation
/
Risk factors
Limits:
Adolescent
/
Adult
/
Child
/
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
Country/Region as subject:
Asia
Language:
English
Journal:
Journal of Preventive Medicine and Public Health
Year:
2009
Type:
Article
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