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

Research output: Contribution to journalArticle

7 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)2327-2331
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Volume146
Issue number18
DOIs
Publication statusPublished - Sep 15 2008
Externally publishedYes

Fingerprint

Cleft Palate
Single Nucleotide Polymorphism
Mothers
Population
Haplotypes
Genes
Animal Models
Alleles
Odds Ratio

Keywords

  • Maternal transmission effects
  • Oral cleft palate
  • Parent-of-origin
  • TCOF1

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Jae, W. S., Liang, K. Y., Hetmanski, J. B., Fallin, M. D., Ingersoll, R. G., Ji, W. P., ... Beaty, T. H. (2008). Excess maternal transmission of markers in TCOF1 among cleft palate case-parent trios from three populations. American Journal of Medical Genetics, Part A, 146(18), 2327-2331. https://doi.org/10.1002/ajmg.a.32302

Excess maternal transmission of markers in TCOF1 among cleft palate case-parent trios from three populations. / Jae, Woong Sull; Liang, Kung Yee; Hetmanski, Jacqueline B.; Fallin, M. Daniele; Ingersoll, Roxanne G.; Ji, Wan Park; Wu-Chou, Yah Huei; Chen, Philip K.; Chong, Samuel S.; Cheah, Felicia; Yeow, Vincent; Beyoung, Yun Park; Sun, Ha Jee; Jabs, Ethylin W.; Redett, Richard; Scott, Alan F.; Beaty, Terri H.

In: American Journal of Medical Genetics, Part A, Vol. 146, No. 18, 15.09.2008, p. 2327-2331.

Research output: Contribution to journalArticle

Jae, WS, Liang, KY, Hetmanski, JB, Fallin, MD, Ingersoll, RG, Ji, WP, Wu-Chou, YH, Chen, PK, Chong, SS, Cheah, F, Yeow, V, Beyoung, YP, Sun, HJ, Jabs, EW, Redett, R, Scott, AF & Beaty, TH 2008, 'Excess maternal transmission of markers in TCOF1 among cleft palate case-parent trios from three populations', American Journal of Medical Genetics, Part A, vol. 146, no. 18, pp. 2327-2331. https://doi.org/10.1002/ajmg.a.32302
Jae, Woong Sull ; Liang, Kung Yee ; Hetmanski, Jacqueline B. ; Fallin, M. Daniele ; Ingersoll, Roxanne G. ; Ji, Wan Park ; Wu-Chou, Yah Huei ; Chen, Philip K. ; Chong, Samuel S. ; Cheah, Felicia ; Yeow, Vincent ; Beyoung, Yun Park ; Sun, Ha Jee ; Jabs, Ethylin W. ; Redett, Richard ; Scott, Alan F. ; Beaty, Terri H. / Excess maternal transmission of markers in TCOF1 among cleft palate case-parent trios from three populations. In: American Journal of Medical Genetics, Part A. 2008 ; Vol. 146, No. 18. pp. 2327-2331.
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