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. 2008 Sep 15;146A(18):2327-31.
doi: 10.1002/ajmg.a.32302.

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

Jae Woong Sull  1 , 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
Affiliations

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

Jae Woong Sull et al. Am J Med Genet A. .

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.

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References

    1. Becker T, Knapp M. Maximum-likelihood estimation of haplotype frequencies in nuclear families. Genet Epidemiol. 2004;27:21–32. - PubMed
    1. Becker T, Baur MP, Knapp M. Detection of parent-of-origin effects in nuclear families using haplotype analysis. Hum Hered. 2006;62:64–76. - PubMed
    1. Bellus GA, Hefferon TW, Ortiz de Luna RI, Hecht JT, Horton WA, Machado M, Kaitila I, McIntosh I, Francomano CA. Achondroplasia is defined by recurrent G380R mutations of FG FR3. Am J Hum Genet. 1995;56:368–373. - PMC - PubMed
    1. Cobourne MT. The complex genetics of cleft lip and palate. Eur J Orthod. 2004;26:7–16. - PubMed
    1. Cordell HJ, Barratt BJ, Clayton DG. Case/pseudocontrol analysis in genetic association studies: A unified framework for detection of genotype and haplotype associations, gene-gene and gene-environment interactions, and parent-of-origin effects. Genet Epidemiol. 2004;26:167–185. - PubMed

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