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

doi:10.1002/bdra.23413

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

School of Medicine

Research output: Contribution to journal › Article › peer-review

9 Scopus citations

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 language	English (US)
Pages (from-to)	857-862
Number of pages	6
Journal	Birth Defects Research Part A - Clinical and Molecular Teratology
Volume	103
Issue number	10
DOIs	https://doi.org/10.1002/bdra.23413
State	Published - 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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10.1002/bdra.23413

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Bu, L., Chen, Q., Wang, H., Zhang, T., Hetmanski, J. B., Schwender, H., Parker, M., Chou, Y. H. W., Yeow, V., Chong, S. S., Zhang, B., Jabs, E. W., Scott, A. F., & Beaty, T. H. (2015). 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. Birth Defects Research Part A - Clinical and Molecular Teratology, 103(10), 857-862. https://doi.org/10.1002/bdra.23413

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. / Bu, Lingxue; Chen, Qianqian; Wang, Hong et al.
In: Birth Defects Research Part A - Clinical and Molecular Teratology, Vol. 103, No. 10, 10.2015, p. 857-862.

Research output: Contribution to journal › Article › peer-review

Bu, L, Chen, Q, Wang, H, Zhang, T, Hetmanski, JB, Schwender, H, Parker, M, Chou, YHW, Yeow, V, Chong, SS, Zhang, B, Jabs, EW, Scott, AF & Beaty, TH 2015, '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', Birth Defects Research Part A - Clinical and Molecular Teratology, vol. 103, no. 10, pp. 857-862. https://doi.org/10.1002/bdra.23413

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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.",

keywords = "FBAT, FOXF2, Nonsyndromic cleft lip with or without cleft palate, PLINK, SNP, Transmission disequilibrium test",

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

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doi = "10.1002/bdra.23413",

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AU - Bu, Lingxue

AU - Chen, Qianqian

AU - Wang, Hong

AU - Zhang, Tianxiao

AU - Hetmanski, Jacqueline B.

AU - Schwender, Holger

AU - Parker, Margaret

AU - Chou, Yah Huei Wu

AU - Yeow, Vincent

AU - Chong, Samuel S.

AU - Zhang, Bo

AU - Jabs, Ethylin Wang

AU - Scott, Alan F.

AU - Beaty, Terri H.

PY - 2015/10

Y1 - 2015/10

N2 - 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.

AB - 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.

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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

Abstract

Keywords

ASJC Scopus subject areas

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