Evidence of gene-environment interaction for the RUNX2 gene and environmental tobacco smoke in controlling the risk of cleft lip with/without cleft palate

Tao Wu; M. Daniele Fallin; Min Shi; Ingo Ruczinski; Kung Yee Liang; Jacqueline B. Hetmanski; Hong Wang; Roxann G. Ingersoll; Shangzhi Huang; Xiaoqian Ye; Yah Huei Wu-Chou; Philip K. Chen; Ethylin Wang Jabs; Bing Shi; Richard Redett; Alan F. Scott; Jeffrey C. Murray; Mary L. Marazita; Ronald G. Munger; Terri H. Beaty

doi:10.1002/bdra.22885

Evidence of gene-environment interaction for the RUNX2 gene and environmental tobacco smoke in controlling the risk of cleft lip with/without cleft palate

Tao Wu, M. Daniele Fallin, Min Shi, Ingo Ruczinski, Kung Yee Liang, Jacqueline B. Hetmanski, Hong Wang, Roxann G. Ingersoll, Shangzhi Huang, Xiaoqian Ye, Yah Huei Wu-Chou, Philip K. Chen, Ethylin Wang Jabs, Bing Shi, Richard Redett, Alan F. Scott, Jeffrey C. Murray, Mary L. Marazita, Ronald G. Munger, Terri H. Beaty

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

19 Scopus citations

Abstract

This study examined the association between 49 markers in the Runt-related transcription factor 2 (RUNX2) gene and nonsyndromic cleft lip with/without cleft palate (CL/P) among 326 Chinese case-parent trios, while considering gene-environment (GxE) interaction and parent-of-origin effects. Five single-nucleotide polymorphisms (SNPs) showed significant evidence of linkage and association with CL/P and these results were replicated in an independent European sample of 825 case-parent trios. We also report compelling evidence for interaction between markers in RUNX2 and environmental tobacco smoke (ETS). Although most marginal SNP effects (i.e., ignoring maternal exposures) were not statistically significant, eight SNPs were significant when considering possible interaction with ETS when testing for gene (G) and GxE interaction simultaneously or when considering GxE alone. Independent samples from European populations showed consistent evidence of significant GxETS interaction at two SNPs (rs6904353 and rs7748231). Our results suggest genetic variation in RUNX2 may influence susceptibility to CL/P through interacting with ETS.

Original language	English (US)
Pages (from-to)	76-83
Number of pages	8
Journal	Birth Defects Research Part A - Clinical and Molecular Teratology
Volume	94
Issue number	2
DOIs	https://doi.org/10.1002/bdra.22885
State	Published - Feb 2012

Keywords

Gene-environment interaction
Imprinting
Oral clefts
Parent-of-origin effects
RUNX2

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Embryology
Developmental Biology

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10.1002/bdra.22885

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Wu, T., Fallin, M. D., Shi, M., Ruczinski, I., Liang, K. Y., Hetmanski, J. B., Wang, H., Ingersoll, R. G., Huang, S., Ye, X., Wu-Chou, Y. H., Chen, P. K., Jabs, E. W., Shi, B., Redett, R., Scott, A. F., Murray, J. C., Marazita, M. L., Munger, R. G., & Beaty, T. H. (2012). Evidence of gene-environment interaction for the RUNX2 gene and environmental tobacco smoke in controlling the risk of cleft lip with/without cleft palate. Birth Defects Research Part A - Clinical and Molecular Teratology, 94(2), 76-83. https://doi.org/10.1002/bdra.22885

Evidence of gene-environment interaction for the RUNX2 gene and environmental tobacco smoke in controlling the risk of cleft lip with/without cleft palate. / Wu, Tao; Fallin, M. Daniele; Shi, Min et al.
In: Birth Defects Research Part A - Clinical and Molecular Teratology, Vol. 94, No. 2, 02.2012, p. 76-83.

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

Wu, T, Fallin, MD, Shi, M, Ruczinski, I, Liang, KY, Hetmanski, JB, Wang, H, Ingersoll, RG, Huang, S, Ye, X, Wu-Chou, YH, Chen, PK, Jabs, EW, Shi, B, Redett, R , Scott, AF, Murray, JC, Marazita, ML, Munger, RG & Beaty, TH 2012, 'Evidence of gene-environment interaction for the RUNX2 gene and environmental tobacco smoke in controlling the risk of cleft lip with/without cleft palate', Birth Defects Research Part A - Clinical and Molecular Teratology, vol. 94, no. 2, pp. 76-83. https://doi.org/10.1002/bdra.22885

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title = "Evidence of gene-environment interaction for the RUNX2 gene and environmental tobacco smoke in controlling the risk of cleft lip with/without cleft palate",

abstract = "This study examined the association between 49 markers in the Runt-related transcription factor 2 (RUNX2) gene and nonsyndromic cleft lip with/without cleft palate (CL/P) among 326 Chinese case-parent trios, while considering gene-environment (GxE) interaction and parent-of-origin effects. Five single-nucleotide polymorphisms (SNPs) showed significant evidence of linkage and association with CL/P and these results were replicated in an independent European sample of 825 case-parent trios. We also report compelling evidence for interaction between markers in RUNX2 and environmental tobacco smoke (ETS). Although most marginal SNP effects (i.e., ignoring maternal exposures) were not statistically significant, eight SNPs were significant when considering possible interaction with ETS when testing for gene (G) and GxE interaction simultaneously or when considering GxE alone. Independent samples from European populations showed consistent evidence of significant GxETS interaction at two SNPs (rs6904353 and rs7748231). Our results suggest genetic variation in RUNX2 may influence susceptibility to CL/P through interacting with ETS.",

keywords = "Gene-environment interaction, Imprinting, Oral clefts, Parent-of-origin effects, RUNX2",

author = "Tao Wu and Fallin, {M. Daniele} and Min Shi and Ingo Ruczinski and Liang, {Kung Yee} and Hetmanski, {Jacqueline B.} and Hong Wang and Ingersoll, {Roxann G.} and Shangzhi Huang and Xiaoqian Ye and Wu-Chou, {Yah Huei} and Chen, {Philip K.} and Jabs, {Ethylin Wang} and Bing Shi and Richard Redett and Scott, {Alan F.} and Murray, {Jeffrey C.} and Marazita, {Mary L.} and Munger, {Ronald G.} and Beaty, {Terri H.}",

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AU - Wu, Tao

AU - Fallin, M. Daniele

AU - Shi, Min

AU - Ruczinski, Ingo

AU - Liang, Kung Yee

AU - Hetmanski, Jacqueline B.

AU - Wang, Hong

AU - Ingersoll, Roxann G.

AU - Huang, Shangzhi

AU - Ye, Xiaoqian

AU - Wu-Chou, Yah Huei

AU - Chen, Philip K.

AU - Jabs, Ethylin Wang

AU - Shi, Bing

AU - Redett, Richard

AU - Scott, Alan F.

AU - Murray, Jeffrey C.

AU - Marazita, Mary L.

AU - Munger, Ronald G.

AU - Beaty, Terri H.

PY - 2012/2

Y1 - 2012/2

N2 - This study examined the association between 49 markers in the Runt-related transcription factor 2 (RUNX2) gene and nonsyndromic cleft lip with/without cleft palate (CL/P) among 326 Chinese case-parent trios, while considering gene-environment (GxE) interaction and parent-of-origin effects. Five single-nucleotide polymorphisms (SNPs) showed significant evidence of linkage and association with CL/P and these results were replicated in an independent European sample of 825 case-parent trios. We also report compelling evidence for interaction between markers in RUNX2 and environmental tobacco smoke (ETS). Although most marginal SNP effects (i.e., ignoring maternal exposures) were not statistically significant, eight SNPs were significant when considering possible interaction with ETS when testing for gene (G) and GxE interaction simultaneously or when considering GxE alone. Independent samples from European populations showed consistent evidence of significant GxETS interaction at two SNPs (rs6904353 and rs7748231). Our results suggest genetic variation in RUNX2 may influence susceptibility to CL/P through interacting with ETS.

AB - This study examined the association between 49 markers in the Runt-related transcription factor 2 (RUNX2) gene and nonsyndromic cleft lip with/without cleft palate (CL/P) among 326 Chinese case-parent trios, while considering gene-environment (GxE) interaction and parent-of-origin effects. Five single-nucleotide polymorphisms (SNPs) showed significant evidence of linkage and association with CL/P and these results were replicated in an independent European sample of 825 case-parent trios. We also report compelling evidence for interaction between markers in RUNX2 and environmental tobacco smoke (ETS). Although most marginal SNP effects (i.e., ignoring maternal exposures) were not statistically significant, eight SNPs were significant when considering possible interaction with ETS when testing for gene (G) and GxE interaction simultaneously or when considering GxE alone. Independent samples from European populations showed consistent evidence of significant GxETS interaction at two SNPs (rs6904353 and rs7748231). Our results suggest genetic variation in RUNX2 may influence susceptibility to CL/P through interacting with ETS.

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KW - Oral clefts

KW - Parent-of-origin effects

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Evidence of gene-environment interaction for the RUNX2 gene and environmental tobacco smoke in controlling the risk of cleft lip with/without cleft palate

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