Multi-ancestry genome-wide meta-analysis identifies novel basal cell carcinoma loci and shared genetic effects with squamous cell carcinoma.

Autor: Choquet H; Kaiser Permanente Northern California (KPNC), Division of Research, Oakland, CA, USA. Helene.Choquet@kp.org., Jiang C; Kaiser Permanente Northern California (KPNC), Division of Research, Oakland, CA, USA., Yin J; Kaiser Permanente Northern California (KPNC), Division of Research, Oakland, CA, USA., Kim Y; Department of Dermatology, Massachusetts General Hospital, Boston, MA, USA.; Department of Population Medicine, Harvard Medical School and Harvard Pilgrim Health Care Institute, Boston, MA, USA., Hoffmann TJ; Institute for Human Genetics, University of California, San Francisco (UCSF), San Francisco, CA, USA.; Department of Epidemiology and Biostatistics, UCSF, San Francisco, CA, USA., Jorgenson E; Regeneron Genetics Center, Tarrytown, NY, USA., Asgari MM; Department of Dermatology, Massachusetts General Hospital, Boston, MA, USA.; Department of Population Medicine, Harvard Medical School and Harvard Pilgrim Health Care Institute, Boston, MA, USA.
Jazyk: angličtina
Zdroj: Communications biology [Commun Biol] 2024 Jan 05; Vol. 7 (1), pp. 33. Date of Electronic Publication: 2024 Jan 05.
DOI: 10.1038/s42003-023-05753-7
Abstrakt: Basal cell carcinoma (BCC) is one of the most common malignancies worldwide, yet its genetic determinants are incompletely defined. We perform a European ancestry genome-wide association (GWA) meta-analysis and a Hispanic/Latino ancestry GWA meta-analysis and meta-analyze both in a multi-ancestry GWAS meta-analysis of BCC, totaling 50,531 BCC cases and 762,234 controls from four cohorts (GERA, Mass-General Brigham Biobank, UK Biobank, and 23andMe research cohort). Here we identify 122 BCC-associated loci, of which 36 were novel, and subsequently fine-mapped these associations. We also identify an association of the well-known pigment gene SLC45A2 as well as associations at RCC2 and CLPTM1L with BCC in Hispanic/Latinos. We examine these BCC loci for association with cutaneous squamous cell carcinoma (cSCC) in 16,407 SCC cases and 762,486 controls of European ancestry, and 33 SNPs show evidence of association. Our study findings provide important insights into the genetic basis of BCC and cSCC susceptibility.
(© 2024. The Author(s).)
Databáze: MEDLINE
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