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

Woong Sull Jae, Kung Yee Liang, Jacqueline B. Hetmanski, M. Daniele Fallin, Roxanne G. Ingersoll, Wan Park Ji, Yah Huei Wu-Chou, Philip K. Chen, Samuel S. Chong, Felicia Cheah, Vincent Yeow, Yun Park Beyoung, Ha Jee Sun, Ethylin W. Jabs, Richard Redett, Alan F. Scott, Terri H. Beaty

研究成果: 雜誌貢獻文章同行評審

8 引文 斯高帕斯(Scopus)


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.
頁(從 - 到)2327-2331
期刊American Journal of Medical Genetics, Part A
出版狀態已發佈 - 9月 15 2008

ASJC Scopus subject areas

  • 遺傳學
  • 遺傳學(臨床)


深入研究「Excess maternal transmission of markers in TCOF1 among cleft palate case-parent trios from three populations」主題。共同形成了獨特的指紋。