| Title: | A multi-phenotype analysis reveals 19 susceptibility loci for basal cell carcinoma and 15 for squamous cell carcinoma |
| Journal: | Nature Communications |
| Published: | 10 Dec 2022 |
| Pubmed: | https://pubmed.ncbi.nlm.nih.gov/36496446/ |
| DOI: | https://doi.org/10.1038/s41467-022-35345-8 |
| URL: | https://www.nature.com/articles/s41467-022-35345-8.pdf |
| Citations: | 16 (16 in last 2 years) as of 8 Aug 2024 |
Publication 8044
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Abstract
Basal cell carcinoma and squamous cell carcinoma are the most common skin cancers, and have genetic overlap with melanoma, pigmentation traits, autoimmune diseases, and blood biochemistry biomarkers. In this multi-trait genetic analysis of over 300,000 participants from Europe, Australia and the United States, we reveal 78 risk loci for basal cell carcinoma (19 previously unknown and replicated) and 69 for squamous cell carcinoma (15 previously unknown and replicated). The previously unknown risk loci are implicated in cancer development and progression (e.g. CDKL1), pigmentation (e.g. TPCN2), cardiometabolic (e.g. FADS2), and immune-regulatory pathways for innate immunity (e.g. IFIH1), and HIV-1 viral load modulation (e.g. CCR5). We also report an optimised polygenic risk score for effective risk stratification for keratinocyte cancer in the Canadian Longitudinal Study of Aging (794 cases and 18139 controls), which could facilitate skin cancer surveillance e.g. in high risk subpopulations such as transplantees.8 Authors
- Mathias Seviiri
- Matthew H. Law
- Jue-Sheng Ong
- Puya Gharahkhani
- Pierre Fontanillas
- Catherine M. Olsen
- David C. Whiteman
- Stuart MacGregor
1 Application
| Application ID | Title |
|---|---|
| 25331 | Gene mapping and genetic correlation across complex traits |
Enabling scientific discoveries that improve human health