title: A Genome-Wide Association Study of Cutaneous Squamous Cell Carcinoma among European Descendants.
abstract: No GWAS on the risk of cutaneous squamous cell carcinoma (SCC) has been published. We conducted a multistage genome-wide association study (GWAS) to identify novel genetic loci for SCC.
  
  
  
  The study included 745 SCC cases and 12,805 controls of European descent in the discovery stage and 531 SCC cases and 551 controls of European ancestry in the replication stage. We selected 64 independent loci that showed the most significant associations with SCC in the discovery stage (linkage disequilibrium r(2) < 0.4) for replication.
  
  
  
  Rs8063761 in the DEF8 gene on chromosome 16 showed the strongest association with SCC (P = 1.7 × 10(-9) in the combined set; P = 1.0 × 10(-6) in the discovery set and P = 4.1 × 10(-4) in the replication set). The variant allele of rs8063761 (T allele) was associated with a decreased expression of DEF8 (P = 1.2 × 10(-6)). Besides, we validated four other SNPs associated with SCC in the replication set, including rs9689649 in PARK2 gene (P = 2.7 × 10(-6) in combined set; P = 3.2 × 10(-5) in the discovery; and P = 0.02 in the replication), rs754626 in the SRC gene (P = 1.1 × 10(-6) in combined set; P = 1.4 × 10(-5) in the discovery and P = 0.02 in the replication), rs9643297 in ST3GAL1 gene (P = 8.2 × 10(-6) in combined set; P = 3.3 × 10(-5) in the discovery; and P = 0.04 in the replication), and rs17247181 in ERBB2IP gene (P = 4.2 × 10(-6) in combined set; P = 3.1 × 10(-5) in the discovery; and P = 0.048 in the replication).
  
  
  
  Several genetic variants were associated with risk of SCC in a multistage GWAS of subjects of European ancestry.
  
  
  
  Further studies are warranted to validate our finding and elucidate the genetic function of these variants. Cancer Epidemiol Biomarkers Prev; 25(4); 714-20. ©2016 AACR.
authors.affiliation: Department of Dermatology, Erasmus Medical Center, Rotterdam, the Netherlands.
authors.forename: Satu J
authors.initials: SJ
authors.lastname: Siiskonen
authors.affiliation: Department of Dermatology, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts. zhmingfeng@gmail.com.
authors.forename: Mingfeng
authors.initials: M
authors.lastname: Zhang
authors.affiliation: Department of Dermatology, Warren Alpert Medical School, Brown University, Providence, Rhode Island. Department of Epidemiology, School of Public Health, Brown University, Providence, Rhode Island.
authors.forename: Wen-Qing
authors.initials: WQ
authors.lastname: Li
authors.affiliation: Department of Epidemiology, Harvard School of Public Health, Boston, Massachusetts. Department of Biostatistics, Harvard School of Public Health, Boston, Massachusetts.
authors.forename: Liming
authors.initials: L
authors.lastname: Liang
authors.affiliation: Department of Epidemiology, Harvard School of Public Health, Boston, Massachusetts. Department of Biostatistics, Harvard School of Public Health, Boston, Massachusetts.
authors.forename: Peter
authors.initials: P
authors.lastname: Kraft
authors.affiliation: Department of Dermatology, Erasmus Medical Center, Rotterdam, the Netherlands.
authors.forename: Tamar
authors.initials: T
authors.lastname: Nijsten
authors.affiliation: Department of Epidemiology, Harvard School of Public Health, Boston, Massachusetts. Department of Epidemiology, Richard M. Fairbanks School of Public Health, Simon Cancer Center, Indiana University, Indianapolis, Indiana. Melvin and Bren Simon Cancer Center, Indiana University, Indianapolis, Indiana.
authors.forename: Jiali
authors.initials: J
authors.lastname: Han
authors.affiliation: Department of Dermatology, Warren Alpert Medical School, Brown University, Providence, Rhode Island. Department of Epidemiology, School of Public Health, Brown University, Providence, Rhode Island. Department of Dermatology, Rhode Island Hospital, Providence, Rhode Island. Channing Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts.
authors.forename: Abrar A
authors.initials: AA
authors.lastname: Qureshi
mesh_terms: D002294:Carcinoma, Squamous Cell / Q000235:genetics*; D016022:Case-Control Studies; D005260:Female; D055106:Genome-Wide Association Study; D005838:Genotype; D006801:Humans; D008297:Male; D012307:Risk Factors; D012878:Skin Neoplasms / Q000235:genetics*; D044465:White People