title: Identification of Susceptibility Loci for Cutaneous Squamous Cell Carcinoma.
abstract: We report a genome-wide association study of cutaneous squamous cell carcinoma conducted among non-Hispanic white members of the Kaiser Permanente Northern California health care system. The study includes a genome-wide screen of 61,457 members (6,891 cases and 54,566 controls) genotyped on the Affymetrix Axiom European array and a replication phase involving an independent set of 6,410 additional members (810 cases and 5,600 controls). Combined analysis of screening and replication phases identified 10 loci containing single-nucleotide polymorphisms (SNPs) with P-values < 5 × 10(-8). Six loci contain genes in the pigmentation pathway; SNPs at these loci appear to modulate squamous cell carcinoma risk independently of the pigmentation phenotypes. Another locus contains HLA class II genes studied in relation to elevated squamous cell carcinoma risk following immunosuppression. SNPs at the remaining three loci include an intronic SNP in FOXP1 at locus 3p13, an intergenic SNP at 3q28 near TP63, and an intergenic SNP at 9p22 near BNC2. These findings provide insights into the genetic factors accounting for inherited squamous cell carcinoma susceptibility.
authors.affiliation: Department of Dermatology, Massachusetts General Hospital, Boston, Massachusetts, USA; Division of Research, Kaiser Permanente Northern California, Oakland, California, USA.
authors.forename: Maryam M
authors.initials: MM
authors.lastname: Asgari
authors.affiliation: Department of Health Research and Policy, Stanford University School of Medicine, Stanford, California, USA.
authors.forename: Wei
authors.initials: W
authors.lastname: Wang
authors.affiliation: Department of Health Research and Policy, Stanford University School of Medicine, Stanford, California, USA; Department of Genetics, Stanford University School of Medicine, Stanford, California, USA.
authors.forename: Nilah M
authors.initials: NM
authors.lastname: Ioannidis
authors.affiliation: Department of Health Research and Policy, Stanford University School of Medicine, Stanford, California, USA.
authors.forename: Jacqueline
authors.initials: J
authors.lastname: Itnyre
authors.affiliation: Department of Epidemiology and Biostatistics and Institute for Human Genetics, University of California, San Francisco, California, USA.
authors.forename: Thomas
authors.initials: T
authors.lastname: Hoffmann
authors.affiliation: Division of Research, Kaiser Permanente Northern California, Oakland, California, USA.
authors.forename: Eric
authors.initials: E
authors.lastname: Jorgenson
authors.affiliation: Department of Health Research and Policy, Stanford University School of Medicine, Stanford, California, USA. Electronic address: alicesw@stanford.edu.
authors.forename: Alice S
authors.initials: AS
authors.lastname: Whittemore
mesh_terms: D000328:Adult; D002140:California; D002294:Carcinoma, Squamous Cell / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D016022:Case-Control Studies; D015331:Cohort Studies; D005260:Female; D056426:Genetic Loci; D020022:Genetic Predisposition to Disease / Q000453:epidemiology*; D055106:Genome-Wide Association Study; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D012878:Skin Neoplasms / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D044465:White People / Q000235:genetics
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