Evaluating SKI as a candidate gene for non-syndromic cleft lip with or without cleft palate

Elisabeth Mangold, Heiko Reutter, Rafael B.R. León-Cachón, Kerstin U. Ludwig, Stefan Herms, Óscar Chacón-Camacho, Rocío Ortiz-López, Mario Paredes-Zenteno, Abelardo Arizpe-Cantú, Sergio G. Muñoz-Jiménez, Stefanie Nowak, Franz Josef Kramer, Thomas F. Wienker, Markus M. Nöthen, Michael Knapp, Augusto Rojas-Martínez

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Abstract

Non-syndromic cleft lip with or without cleft palate (NSCL/P) is one of the most common of all congenital malformations and has a multifactorial etiology. Findings in mice suggest that the v-ski sarcoma viral oncogene homolog (SKI) gene is a candidate gene for orofacial clefting. In humans, a significant association between rs2843159 within SKI and NSCL/P has been reported in patients from the Philippines and South America. In the South American patients, the association was driven by the subgroup of patients with non-syndromic cleft lip only (NSCLO). Here we investigated the association with rs2843159 in a Mayan Mesoamerican population (172 NSCL/P patients and 366 controls). In addition, we analyzed the phenotypic subgroups NSCLO and non-syndromic cleft of lip and palate (NSCLP). A trend towards association between rs2843159 and NSCL/P was observed in the Mayan cohort (P = 0.097), and we found a stronger association in the NSCLP subgroup (P = 0.072) despite a limited sample size. To investigate whether other common variants within the SKI gene contribute to NSCL/P susceptibility in European and Asian populations, we also analyzed genotypic data from two recent genome-wide association studies using set-based statistical approaches. These analyses detected a trend toward association in the European population. Our data provide limited support for the hypothesis that common SKI variants are susceptibility factors for NSCL/P. © 2012 Eur J Oral Sci.
Original languageEnglish
Pages (from-to)373-377
Number of pages5
JournalEuropean Journal of Oral Sciences
DOIs
Publication statusPublished - 1 Oct 2012
Externally publishedYes

Fingerprint

Cleft Lip
Cleft Palate
Genes
Population
Philippines
South America
Genome-Wide Association Study
Oncogenes
Sarcoma
Sample Size

All Science Journal Classification (ASJC) codes

  • Dentistry(all)

Cite this

Mangold, Elisabeth ; Reutter, Heiko ; León-Cachón, Rafael B.R. ; Ludwig, Kerstin U. ; Herms, Stefan ; Chacón-Camacho, Óscar ; Ortiz-López, Rocío ; Paredes-Zenteno, Mario ; Arizpe-Cantú, Abelardo ; Muñoz-Jiménez, Sergio G. ; Nowak, Stefanie ; Kramer, Franz Josef ; Wienker, Thomas F. ; Nöthen, Markus M. ; Knapp, Michael ; Rojas-Martínez, Augusto. / Evaluating SKI as a candidate gene for non-syndromic cleft lip with or without cleft palate. In: European Journal of Oral Sciences. 2012 ; pp. 373-377.
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abstract = "Non-syndromic cleft lip with or without cleft palate (NSCL/P) is one of the most common of all congenital malformations and has a multifactorial etiology. Findings in mice suggest that the v-ski sarcoma viral oncogene homolog (SKI) gene is a candidate gene for orofacial clefting. In humans, a significant association between rs2843159 within SKI and NSCL/P has been reported in patients from the Philippines and South America. In the South American patients, the association was driven by the subgroup of patients with non-syndromic cleft lip only (NSCLO). Here we investigated the association with rs2843159 in a Mayan Mesoamerican population (172 NSCL/P patients and 366 controls). In addition, we analyzed the phenotypic subgroups NSCLO and non-syndromic cleft of lip and palate (NSCLP). A trend towards association between rs2843159 and NSCL/P was observed in the Mayan cohort (P = 0.097), and we found a stronger association in the NSCLP subgroup (P = 0.072) despite a limited sample size. To investigate whether other common variants within the SKI gene contribute to NSCL/P susceptibility in European and Asian populations, we also analyzed genotypic data from two recent genome-wide association studies using set-based statistical approaches. These analyses detected a trend toward association in the European population. Our data provide limited support for the hypothesis that common SKI variants are susceptibility factors for NSCL/P. {\circledC} 2012 Eur J Oral Sci.",
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Mangold, E, Reutter, H, León-Cachón, RBR, Ludwig, KU, Herms, S, Chacón-Camacho, Ó, Ortiz-López, R, Paredes-Zenteno, M, Arizpe-Cantú, A, Muñoz-Jiménez, SG, Nowak, S, Kramer, FJ, Wienker, TF, Nöthen, MM, Knapp, M & Rojas-Martínez, A 2012, 'Evaluating SKI as a candidate gene for non-syndromic cleft lip with or without cleft palate', European Journal of Oral Sciences, pp. 373-377. https://doi.org/10.1111/j.1600-0722.2012.00991.x

Evaluating SKI as a candidate gene for non-syndromic cleft lip with or without cleft palate. / Mangold, Elisabeth; Reutter, Heiko; León-Cachón, Rafael B.R.; Ludwig, Kerstin U.; Herms, Stefan; Chacón-Camacho, Óscar; Ortiz-López, Rocío; Paredes-Zenteno, Mario; Arizpe-Cantú, Abelardo; Muñoz-Jiménez, Sergio G.; Nowak, Stefanie; Kramer, Franz Josef; Wienker, Thomas F.; Nöthen, Markus M.; Knapp, Michael; Rojas-Martínez, Augusto.

In: European Journal of Oral Sciences, 01.10.2012, p. 373-377.

Research output: Contribution to journalArticle

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AU - Mangold, Elisabeth

AU - Reutter, Heiko

AU - León-Cachón, Rafael B.R.

AU - Ludwig, Kerstin U.

AU - Herms, Stefan

AU - Chacón-Camacho, Óscar

AU - Ortiz-López, Rocío

AU - Paredes-Zenteno, Mario

AU - Arizpe-Cantú, Abelardo

AU - Muñoz-Jiménez, Sergio G.

AU - Nowak, Stefanie

AU - Kramer, Franz Josef

AU - Wienker, Thomas F.

AU - Nöthen, Markus M.

AU - Knapp, Michael

AU - Rojas-Martínez, Augusto

PY - 2012/10/1

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N2 - Non-syndromic cleft lip with or without cleft palate (NSCL/P) is one of the most common of all congenital malformations and has a multifactorial etiology. Findings in mice suggest that the v-ski sarcoma viral oncogene homolog (SKI) gene is a candidate gene for orofacial clefting. In humans, a significant association between rs2843159 within SKI and NSCL/P has been reported in patients from the Philippines and South America. In the South American patients, the association was driven by the subgroup of patients with non-syndromic cleft lip only (NSCLO). Here we investigated the association with rs2843159 in a Mayan Mesoamerican population (172 NSCL/P patients and 366 controls). In addition, we analyzed the phenotypic subgroups NSCLO and non-syndromic cleft of lip and palate (NSCLP). A trend towards association between rs2843159 and NSCL/P was observed in the Mayan cohort (P = 0.097), and we found a stronger association in the NSCLP subgroup (P = 0.072) despite a limited sample size. To investigate whether other common variants within the SKI gene contribute to NSCL/P susceptibility in European and Asian populations, we also analyzed genotypic data from two recent genome-wide association studies using set-based statistical approaches. These analyses detected a trend toward association in the European population. Our data provide limited support for the hypothesis that common SKI variants are susceptibility factors for NSCL/P. © 2012 Eur J Oral Sci.

AB - Non-syndromic cleft lip with or without cleft palate (NSCL/P) is one of the most common of all congenital malformations and has a multifactorial etiology. Findings in mice suggest that the v-ski sarcoma viral oncogene homolog (SKI) gene is a candidate gene for orofacial clefting. In humans, a significant association between rs2843159 within SKI and NSCL/P has been reported in patients from the Philippines and South America. In the South American patients, the association was driven by the subgroup of patients with non-syndromic cleft lip only (NSCLO). Here we investigated the association with rs2843159 in a Mayan Mesoamerican population (172 NSCL/P patients and 366 controls). In addition, we analyzed the phenotypic subgroups NSCLO and non-syndromic cleft of lip and palate (NSCLP). A trend towards association between rs2843159 and NSCL/P was observed in the Mayan cohort (P = 0.097), and we found a stronger association in the NSCLP subgroup (P = 0.072) despite a limited sample size. To investigate whether other common variants within the SKI gene contribute to NSCL/P susceptibility in European and Asian populations, we also analyzed genotypic data from two recent genome-wide association studies using set-based statistical approaches. These analyses detected a trend toward association in the European population. Our data provide limited support for the hypothesis that common SKI variants are susceptibility factors for NSCL/P. © 2012 Eur J Oral Sci.

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