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Excess maternal transmission of markers in TCOF1 among cleft palate case-parent trios from three populations

Authors
 Jae Woong Sull  ;  Kung-Yee Liang  ;  Jacqueline B. Hetmanski  ;  M. Daniele Fallin  ;  Roxanne G. Ingersoll  ;  Ji Wan Park  ;  Yah-Huei Wu-Chou  ;  Philip K. Chen  ;  Samuel S. Chong  ;  Felicia Cheah  ;  Vincent Yeow  ;  Beyoung Yun Park  ;  Sun Ha Jee  ;  Ethylin W. Jabs  ;  Richard Redett  ;  Alan F. Scott  ;  Terri H. Beaty 
Citation
 AMERICAN JOURNAL OF NEPHROLOGY, Vol.146A(18) : 2327-2331, 2008 
Journal Title
AMERICAN JOURNAL OF NEPHROLOGY
ISSN
 0250-8095 
Issue Date
2008
MeSH
Chi-Square Distribution ; Cleft Palate/epidemiology ; Cleft Palate/genetics* ; Female ; Gene Frequency ; Genetic Markers ; Genomic Imprinting* ; Haplotypes ; Humans ; Likelihood Functions ; Linkage Disequilibrium ; Male ; Maryland/epidemiology ; Nuclear Proteins/genetics* ; Phosphoproteins/genetics* ; Polymorphism, Single Nucleotide* ; Risk Factors ; Singapore/epidemiology ; Taiwan/epidemiology
Keywords
TCOF1 ; oral cleft palate ; maternal transmission effects ; parent‐of‐origin
Abstract
Isolated cleft palate is among the most common human birth defects. The TCOF1 gene has been suggested as a candidate gene for cleft palate based on animal models. This study tests for association between markers in TCOF1 and isolated, nonsyndromic cleft palate using a case-parent trio design considering parent-of-origin effects. Case-parent trios from three populations (comprising a total of 81 case-parent trios) were genotyped for single nucleotide polymorphisms (SNPs) in the TCOF1 gene. We used the transmission disequilibrium test and the transmission asymmetry test on individual SNPs. When all trios were combined, the odds ratio for transmission of the minor allele, OR(transmission), was significant for SNP rs15251 (OR = 2.88, P = 0.007), as well as rs2255796 and rs2569062 (OR = 2.08, P = 0.03; OR = 2.43, P = 0.041; respectively) when parent of origin was not considered. The transmission asymmetry test also revealed one SNP (rs15251) showing excess maternal transmission significant at the P = 0.005 level (OR = 6.50). Parent-of-origin effects were assessed using the parent-of-origin likelihood ratio test on both SNPs and haplotypes. While the parent-of-origin likelihood ratio test was only marginally significant for this SNP (P = 0.136), analysis of haplotypes of rs2255796 and rs15251 suggested excess maternal transmission. Therefore, these data suggest TCOF1 may influence risk of cleft palate through a parent-of-origin effect.
Files in This Item:
T200800324.pdf Download
DOI
10.1002/ajmg.a.32302
Appears in Collections:
4. Graduate School of Public Health (보건대학원) > Graduate School of Public Health (보건대학원) > 1. Journal Papers
Yonsei Authors
Sull, Jae Woong(설재웅)
Jee, Sun Ha(지선하) ORCID logo https://orcid.org/0000-0001-9519-3068
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/106476
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