Novel evidence of association with nonsyndromic cleft lip with or without cleft palate was shown for single nucleotide polymorphisms in FOXF2 gene in an Asian population

Lingxue Bu, Qianqian Chen, Hong Wang, Tianxiao Zhang, Jacqueline B. Hetmanski, Holger Schwender, Margaret Parker, Yah Huei Wu Chou, Vincent Yeow, Samuel S. Chong, Bo Zhang, Ethylin Wang Jabs, Alan F. Scott, Terri H. Beaty

Research output: Contribution to journalArticlepeer-review

Abstract

BACKGROUND: The forkhead box F2 gene (FOXF2) located in chromosome 6p25.3 has been shown to play a crucial role in palatal development in mouse and rat models. To date, no evidence of linkage or association has been reported for this gene in humans with oral clefts. METHODS: Allelic transmission disequilibrium tests were used to robustly assess evidence of linkage and association with nonsyndromic cleft lip with or without cleft palate for nine single nucleotide polymorphisms (SNPs) in and around FOXF2 in both Asian and European trios using PLINK. RESULTS: Statistically significant evidence of linkage and association was shown for two SNPs (rs1711968 and rs732835) in 216 Asian trios where the empiric P values with permutation tests were 0.0016 and 0.005, respectively. The corresponding estimated odds ratios for carrying the minor allele at these SNPs were 2.05 (95% confidence interval = 1.41, 2.98) and 1.77 (95% confidence interval = 1.26, 2.49), respectively. CONCLUSION: Our results provided statistical evidence of linkage and association between FOXF2 and nonsyndromic cleft lip with or without cleft palate.

Original languageEnglish (US)
Pages (from-to)857-862
Number of pages6
JournalBirth Defects Research Part A - Clinical and Molecular Teratology
Volume103
Issue number10
DOIs
StatePublished - Oct 2015

Keywords

  • FBAT
  • FOXF2
  • Nonsyndromic cleft lip with or without cleft palate
  • PLINK
  • SNP
  • Transmission disequilibrium test

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Embryology
  • Developmental Biology

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