Association between genes on chromosome 4p16 and non-syndromic oral clefts in four populations

Roxann G. Ingersoll; Jacqueline Hetmanski; Ji Wan Park; M. Daniele Fallin; Iain McIntosh; Yah Huei Wu-Chou; Philip K. Chen; Vincent Yeow; Samuel S. Chong; Felicia Cheah; Jae Woong Sull; Sun Ha Jee; Hong Wang; Tao Wu; Tanda Murray; Shangzhi Huang; Xiaoqian Ye; Ethylin Wang Jabs; Richard Redett; Gerald Raymond; Alan F. Scott; Terri H. Beaty

doi:10.1038/ejhg.2009.228

Association between genes on chromosome 4p16 and non-syndromic oral clefts in four populations

Roxann G. Ingersoll, Jacqueline Hetmanski, Ji Wan Park, M. Daniele Fallin, Iain McIntosh, Yah Huei Wu-Chou, Philip K. Chen, Vincent Yeow, Samuel S. Chong, Felicia Cheah, Jae Woong Sull, Sun Ha Jee, Hong Wang, Tao Wu, Tanda Murray, Shangzhi Huang, Xiaoqian Ye, Ethylin Wang Jabs, Richard Redett, Gerald RaymondAlan F. Scott, Terri H. Beaty

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

19 Citations (Scopus)

Abstract

Isolated cleft lip with or without cleft palate and cleft palate are among the most common human birth defects. Several candidate gene studies on MSX1 have shown significant association between markers in MSX1 and risk of oral clefts, and re-sequencing studies have identified multiple mutations in MSX1 in a small minority of cases, which may account for 1-2% of all isolated oral clefts cases. We explored the 2-Mb region around MSX1, using a marker map of 393 single nucleotide polymorphisms (SNPs) in 297 cleft lip, with or without cleft palate, case-parent trios and 84 cleft palate trios from Maryland, Taiwan, Singapore, and Korea. Both individual markers and haplotypes of two to five SNPs showed several regions yielding statistical evidence for linkage and disequilibrium. Two genes (STK32B and EVC) yielded consistent evidence from cleft lip, with or without cleft palate, trios in all four populations. These two genes plus EVC2 also yielded suggestive evidence for linkage and disequilibrium among cleft palate trios. This analysis suggests that several genes, not just MSX1, in this region may influence risk of oral clefts.

Original language	English
Pages (from-to)	726-732
Number of pages	7
Journal	European Journal of Human Genetics
Volume	18
Issue number	6
DOIs	https://doi.org/10.1038/ejhg.2009.228
Publication status	Published - Jun 1 2010
Externally published	Yes

Keywords

Chromosome 4p16
Cleft lip with or without cleft palate
Cleft palate
MSX1
Oral clefts

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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10.1038/ejhg.2009.228

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Ingersoll, R. G., Hetmanski, J., Park, J. W., Fallin, M. D., McIntosh, I., Wu-Chou, Y. H., Chen, P. K., Yeow, V., Chong, S. S., Cheah, F., Sull, J. W., Jee, S. H., Wang, H., Wu, T., Murray, T., Huang, S., Ye, X., Jabs, E. W., Redett, R., ... Beaty, T. H. (2010). Association between genes on chromosome 4p16 and non-syndromic oral clefts in four populations. European Journal of Human Genetics, 18(6), 726-732. https://doi.org/10.1038/ejhg.2009.228

Ingersoll, RG, Hetmanski, J, Park, JW, Fallin, MD, McIntosh, I, Wu-Chou, YH, Chen, PK, Yeow, V, Chong, SS, Cheah, F, Sull, JW, Jee, SH, Wang, H, Wu, T, Murray, T, Huang, S, Ye, X, Jabs, EW, Redett, R, Raymond, G, Scott, AF & Beaty, TH 2010, 'Association between genes on chromosome 4p16 and non-syndromic oral clefts in four populations', European Journal of Human Genetics, vol. 18, no. 6, pp. 726-732. https://doi.org/10.1038/ejhg.2009.228

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abstract = "Isolated cleft lip with or without cleft palate and cleft palate are among the most common human birth defects. Several candidate gene studies on MSX1 have shown significant association between markers in MSX1 and risk of oral clefts, and re-sequencing studies have identified multiple mutations in MSX1 in a small minority of cases, which may account for 1-2% of all isolated oral clefts cases. We explored the 2-Mb region around MSX1, using a marker map of 393 single nucleotide polymorphisms (SNPs) in 297 cleft lip, with or without cleft palate, case-parent trios and 84 cleft palate trios from Maryland, Taiwan, Singapore, and Korea. Both individual markers and haplotypes of two to five SNPs showed several regions yielding statistical evidence for linkage and disequilibrium. Two genes (STK32B and EVC) yielded consistent evidence from cleft lip, with or without cleft palate, trios in all four populations. These two genes plus EVC2 also yielded suggestive evidence for linkage and disequilibrium among cleft palate trios. This analysis suggests that several genes, not just MSX1, in this region may influence risk of oral clefts.",

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AU - Ingersoll, Roxann G.

AU - Hetmanski, Jacqueline

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AU - Fallin, M. Daniele

AU - McIntosh, Iain

AU - Wu-Chou, Yah Huei

AU - Chen, Philip K.

AU - Yeow, Vincent

AU - Chong, Samuel S.

AU - Cheah, Felicia

AU - Sull, Jae Woong

AU - Jee, Sun Ha

AU - Wang, Hong

AU - Wu, Tao

AU - Murray, Tanda

AU - Huang, Shangzhi

AU - Ye, Xiaoqian

AU - Jabs, Ethylin Wang

AU - Redett, Richard

AU - Raymond, Gerald

AU - Scott, Alan F.

AU - Beaty, Terri H.

PY - 2010/6/1

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N2 - Isolated cleft lip with or without cleft palate and cleft palate are among the most common human birth defects. Several candidate gene studies on MSX1 have shown significant association between markers in MSX1 and risk of oral clefts, and re-sequencing studies have identified multiple mutations in MSX1 in a small minority of cases, which may account for 1-2% of all isolated oral clefts cases. We explored the 2-Mb region around MSX1, using a marker map of 393 single nucleotide polymorphisms (SNPs) in 297 cleft lip, with or without cleft palate, case-parent trios and 84 cleft palate trios from Maryland, Taiwan, Singapore, and Korea. Both individual markers and haplotypes of two to five SNPs showed several regions yielding statistical evidence for linkage and disequilibrium. Two genes (STK32B and EVC) yielded consistent evidence from cleft lip, with or without cleft palate, trios in all four populations. These two genes plus EVC2 also yielded suggestive evidence for linkage and disequilibrium among cleft palate trios. This analysis suggests that several genes, not just MSX1, in this region may influence risk of oral clefts.

AB - Isolated cleft lip with or without cleft palate and cleft palate are among the most common human birth defects. Several candidate gene studies on MSX1 have shown significant association between markers in MSX1 and risk of oral clefts, and re-sequencing studies have identified multiple mutations in MSX1 in a small minority of cases, which may account for 1-2% of all isolated oral clefts cases. We explored the 2-Mb region around MSX1, using a marker map of 393 single nucleotide polymorphisms (SNPs) in 297 cleft lip, with or without cleft palate, case-parent trios and 84 cleft palate trios from Maryland, Taiwan, Singapore, and Korea. Both individual markers and haplotypes of two to five SNPs showed several regions yielding statistical evidence for linkage and disequilibrium. Two genes (STK32B and EVC) yielded consistent evidence from cleft lip, with or without cleft palate, trios in all four populations. These two genes plus EVC2 also yielded suggestive evidence for linkage and disequilibrium among cleft palate trios. This analysis suggests that several genes, not just MSX1, in this region may influence risk of oral clefts.

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Association between genes on chromosome 4p16 and non-syndromic oral clefts in four populations

Abstract

Keywords

ASJC Scopus subject areas

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