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

Research output: Contribution to journalArticlepeer-review

4 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)373-377
Number of pages5
JournalEuropean Journal of Oral Sciences
Issue number5
Publication statusPublished - 1 Oct 2012
Externally publishedYes

Bibliographical note

Copyright 2013 Elsevier B.V., All rights reserved.

All Science Journal Classification (ASJC) codes

  • General Dentistry


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