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- Title
Evaluating SKI as a candidate gene for non-syndromic cleft lip with or without cleft palate.
- Authors
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
- 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.
- Publication
European journal of oral sciences, 2012, Vol 120, Issue 5, p373
- ISSN
1600-0722
- Publication type
Journal Article
- DOI
10.1111/j.1600-0722.2012.00991.x