title: Nonsyndromic cleft lip with or without cleft palate and cancer: Evaluation of a possible common genetic background through the analysis of GWAS data.
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.
authors.affiliation: Institute of Human Genetics, University of Bonn, Sigmund-Freud-Straße 25, 53127 Bonn, Germany.
authors.forename: Eva
authors.initials: E
authors.lastname: Dunkhase
authors.affiliation: Institute of Human Genetics, University of Bonn, Sigmund-Freud-Straße 25, 53127 Bonn, Germany; Department of Genomics, Life and Brain Center, University of Bonn, Sigmund-Freud-Straße 25, 53127 Bonn, Germany.
authors.forename: Kerstin U
authors.initials: KU
authors.lastname: Ludwig
authors.affiliation: Institute of Medical Biometry, Informatics, and Epidemiology, University of Bonn, Sigmund-Freud-Straße 25, 53127 Bonn, Germany.
authors.forename: Michael
authors.initials: M
authors.lastname: Knapp
authors.affiliation: Department of Epidemiology, University of Alabama at Birmingham, 1665 University Boulevard, Birmingham, AL 35294, USA.
authors.forename: Christine F
authors.initials: CF
authors.lastname: Skibola
authors.affiliation: Department of Preventive Medicine, Keck School of Medicine, University of Southern California, 1975 Zonal Ave, Los Angeles, CA 90033, USA.
authors.forename: Jane C
authors.initials: JC
authors.lastname: Figueiredo
authors.affiliation: Division of Genetics and Epidemiology, The Institute of Cancer Research, 15 Cotswold Road, Sutton SM2 5NG, Surrey, UK.
authors.forename: Fay Julie
authors.initials: FJ
authors.lastname: Hosking
authors.affiliation: Institute of Clinical Molecular Biology, Christian-Albrechts-University Kiel, Schittenhelmstr. 12, 24105 Kiel, Germany.
authors.forename: Eva
authors.initials: E
authors.lastname: Ellinghaus
authors.affiliation: National Cancer Institute, NIH, DHHS, 9609 Medical Center Dr, Rockville, MD 20850, USA.
authors.forename: Maria Teresa
authors.initials: MT
authors.lastname: Landi
authors.affiliation: Department of Epidemiology, School of Public Health, Nanjing Medical University, 140 Hanzhong Rd, Gulou, Nanjing 210029, Jiangsu, China.
authors.forename: Hongxia
authors.initials: H
authors.lastname: Ma
authors.affiliation: Laboratory for Genome Sequencing Analysis, RIKEN Center for Integrative Medical Sciences, 1-7-22 Suehiro-cho, Tsurumi-ku,Yokohama, Kanagawa 230-0045, Japan.
authors.forename: Hidewaki
authors.initials: H
authors.lastname: Nakagawa
authors.affiliation: Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, (06351) 81 Irwon-Ro Gangnam-gu. Seoul, Republic of Korea.
authors.forename: Jong-Won
authors.initials: JW
authors.lastname: Kim
authors.affiliation: Department of Epidemiology, Richard M. Fairbanks School of Public Health, Melvin & Bren Simon Cancer Center, Indiana University, 535 Barnhill Dr, Indianapolis, IN 46202, USA.
authors.forename: Jiali
authors.initials: J
authors.lastname: Han
authors.affiliation: Mayo Clinic, 200 First St. SW Rochester, MN 55905, USA.
authors.forename: Ping
authors.initials: P
authors.lastname: Yang
authors.affiliation: Department of Genomics, Life and Brain Center, University of Bonn, Sigmund-Freud-Straße 25, 53127 Bonn, Germany.
authors.forename: Anne C
authors.initials: AC
authors.lastname: Böhmer
authors.affiliation: Institute of Human Genetics, University of Bonn, Sigmund-Freud-Straße 25, 53127 Bonn, Germany; Department of Genomics, Life and Brain Center, University of Bonn, Sigmund-Freud-Straße 25, 53127 Bonn, Germany; Institute of Medical Biometry, Informatics, and Epidemiology, University of Bonn, Sigmund-Freud-Straße 25, 53127 Bonn, Germany.
authors.forename: Manuel
authors.initials: M
authors.lastname: Mattheisen
authors.affiliation: Institute of Human Genetics, University of Bonn, Sigmund-Freud-Straße 25, 53127 Bonn, Germany; Department of Genomics, Life and Brain Center, University of Bonn, Sigmund-Freud-Straße 25, 53127 Bonn, Germany.
authors.forename: Markus M
authors.initials: MM
authors.lastname: Nöthen
authors.affiliation: Institute of Human Genetics, University of Bonn, Sigmund-Freud-Straße 25, 53127 Bonn, Germany.
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Mangold
keywords: Cancer; Cleft lip; Cleft palate; Genome-wide association study; Single nucleotide polymorphism