Abstract
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.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 22-29 |
| Number of pages | 8 |
| Journal | Genomics Data |
| Volume | 10 |
| DOIs | |
| State | Published - Dec 1 2016 |
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Keywords
- Cancer
- Cleft lip
- Cleft palate
- Genome-wide association study
- Single nucleotide polymorphism
ASJC Scopus subject areas
- Biotechnology
- Biochemistry
- Molecular Medicine
- Genetics
Cite this
Nonsyndromic cleft lip with or without cleft palate and cancer : Evaluation of a possible common genetic background through the analysis of GWAS data. / 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.
In: Genomics Data, Vol. 10, 01.12.2016, p. 22-29.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Nonsyndromic cleft lip with or without cleft palate and cancer
T2 - Evaluation of a possible common genetic background through the analysis of GWAS data
AU - Dunkhase, Eva
AU - Ludwig, Kerstin U.
AU - Knapp, Michael
AU - Skibola, Christine F.
AU - Figueiredo, Jane C.
AU - Hosking, Fay Julie
AU - Ellinghaus, Eva
AU - Landi, Maria Teresa
AU - Ma, Hongxia
AU - Nakagawa, Hidewaki
AU - Kim, Jong Won
AU - Han, Jiali
AU - Yang, Ping
AU - Böhmer, Anne C.
AU - Mattheisen, Manuel
AU - Nöthen, Markus M.
AU - Mangold, Elisabeth
PY - 2016/12/1
Y1 - 2016/12/1
N2 - 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.
AB - 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.
KW - Cancer
KW - Cleft lip
KW - Cleft palate
KW - Genome-wide association study
KW - Single nucleotide polymorphism
UR - http://www.scopus.com/inward/record.url?scp=84985023582&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84985023582&partnerID=8YFLogxK
U2 - 10.1016/j.gdata.2016.08.017
DO - 10.1016/j.gdata.2016.08.017
M3 - Article
AN - SCOPUS:84985023582
VL - 10
SP - 22
EP - 29
JO - Genomics Data
JF - Genomics Data
SN - 2213-5960
ER -