Nonsyndromic cleft lip with or without cleft palate and cancer: Evaluation of a possible common genetic background through the analysis of GWAS data

Previous research suggests a genetic overlap between nonsyndromic cleft lip with or without cleft palate (NSCL/P) and cancer. The aim of the present study was to identify common genetic risk loci for NSCL/P and cancer entities that have been reported to co-occur with orofacial clefting. This was ach...

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Detalles Bibliográficos
Autores principales: Dunkhase, Eva, Ludwig, Kerstin U., Knapp, Michael, Skibola, Christine F., Figueiredo, Jane C., Hosking, Fay Julie, Ellinghaus, Eva, Landi, Maria Teresa, Ma, Hongxia, Nakagawa, Hidewaki, Kim, Jong-Won, Han, Jiali, Yang, Ping, Böhmer, Anne C., Mattheisen, Manuel, Nöthen, Markus M., Mangold, Elisabeth
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2016
Materias:
Regular Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5013250/
https://www.ncbi.nlm.nih.gov/pubmed/27630819
http://dx.doi.org/10.1016/j.gdata.2016.08.017
Descripción
Sumario:Previous research suggests a genetic overlap between nonsyndromic cleft lip with or without cleft palate (NSCL/P) and cancer. The aim of the present study was to identify common genetic risk loci for NSCL/P and cancer entities that have been reported to co-occur with orofacial clefting. This was achieved through the investigation of large genome-wide association study datasets. Investigations of 12 NSCL/P single nucleotide polymorphisms (SNPs) in 32 cancer datasets, and 204 cancer SNPs in two NSCL/P datasets, were performed. The SNPs rs13041247 (20q12) and rs6457327 (6p21.33) showed suggestive evidence for an association with both NSCL/P and a specific cancer entity. These loci harbor genes of biological relevance to oncogenesis (MAFB and OCT4, respectively). This study is the first to characterize possible pleiotropic risk loci for NSCL/P and cancer in a systematic manner. The data represent a starting point for future research by identifying a genetic link between NSCL/P and cancer.

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