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
em En
| WPRIM
| ID: wpr-95332
Biblioteca responsável:
WPRO
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.
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Índice:
WPRIM
Assunto principal:
Algoritmos
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Cromossomos Humanos Par 19
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Haplótipos
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Marcadores Genéticos
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Distribuição de Qui-Quadrado
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Razão de Chances
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Método de Monte Carlo
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Fatores de Risco
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Fenda Labial
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Fissura Palatina
Tipo de estudo:
Etiology_studies
/
Health_economic_evaluation
/
Risk_factors_studies
Limite:
Adolescent
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Adult
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Child
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Child, preschool
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Female
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Humans
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Infant
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Male
País/Região como assunto:
Asia
Idioma:
En
Revista:
Journal of Preventive Medicine and Public Health
Ano de publicação:
2009
Tipo de documento:
Article