AI Article Synopsis
- - A large meta-analysis involving genome-wide association studies (GWAS) of nearly 37,000 melanoma cases revealed 54 significant genetic locations (loci) linked to the disease, advancing our understanding of its genetic risk factors.
- - The study found that the acral melanoma subtype is not influenced by pigmentation, suggesting distinct genetic mechanisms compared to other melanoma types.
- - By combining findings from various genetic studies, researchers identified a total of 85 loci related to cutaneous melanoma, highlighting factors such as nevus count, pigmentation, and telomere maintenance as important in melanoma development.
Article Abstract
Most genetic susceptibility to cutaneous melanoma remains to be discovered. Meta-analysis genome-wide association study (GWAS) of 36,760 cases of melanoma (67% newly genotyped) and 375,188 controls identified 54 significant (P < 5 × 10) loci with 68 independent single nucleotide polymorphisms. Analysis of risk estimates across geographical regions and host factors suggests the acral melanoma subtype is uniquely unrelated to pigmentation. Combining this meta-analysis with GWAS of nevus count and hair color, and transcriptome association approaches, uncovered 31 potential secondary loci for a total of 85 cutaneous melanoma susceptibility loci. These findings provide insights into cutaneous melanoma genetic architecture, reinforcing the importance of nevogenesis, pigmentation and telomere maintenance, together with identifying potential new pathways for cutaneous melanoma pathogenesis.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7255059 | PMC |
| http://dx.doi.org/10.1038/s41588-020-0611-8 | DOI Listing |
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