Genomics Data (Dec 2016)

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

  • Eva Dunkhase,
  • Kerstin U. Ludwig,
  • Michael Knapp,
  • Christine F. Skibola,
  • Jane C. Figueiredo,
  • Fay Julie Hosking,
  • Eva Ellinghaus,
  • Maria Teresa Landi,
  • Hongxia Ma,
  • Hidewaki Nakagawa,
  • Jong-Won Kim,
  • Jiali Han,
  • Ping Yang,
  • Anne C. Böhmer,
  • Manuel Mattheisen,
  • Markus M. Nöthen,
  • Elisabeth Mangold

DOI
https://doi.org/10.1016/j.gdata.2016.08.017
Journal volume & issue
Vol. 10, no. C
pp. 22 – 29

Abstract

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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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