Identification of Susceptibility Loci for Cutaneous Squamous Cell Carcinoma
| Autor: | Alice S. Whittemore, Maryam M. Asgari, Eric Jorgenson, Wei Wang, Jacqueline Itnyre, Thomas J. Hoffmann, Nilah M. Ioannidis |
|---|---|
| Rok vydání: | 2016 |
| Předmět: |
Adult
Male 0301 basic medicine Linkage disequilibrium Skin Neoplasms Genotype Locus (genetics) Genome-wide association study Single-nucleotide polymorphism Dermatology Biology Polymorphism Single Nucleotide Biochemistry Article California White People Cohort Studies 03 medical and health sciences TP63 medicine Humans Genetic Predisposition to Disease Basal cell carcinoma Molecular Biology Genetics Intergenic SNP Cell Biology Middle Aged medicine.disease 030104 developmental biology Genetic Loci Case-Control Studies Carcinoma Squamous Cell Intronic SNP Female Genome-Wide Association Study |
| Zdroj: | Journal of Investigative Dermatology. 136:930-937 |
| ISSN: | 0022-202X |
| Popis: | 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 −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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|