Avtor/Urednik		Landi, Maria Teresa; Bishop, David Timothy; MacGregor, Stuart; Machiela, Mitchell J.; Stratigos, Alexander J.; Ghiorzo, Paola; Brossard, Myriam; Calista, Donato; Choi, Jiyeon; Hočevar, Marko; Novaković, Srdjan
Naslov		Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility
Tip		članek
Vol. in št.		Letnik 52, št. 5
Leto izdaje		2020
Obseg		str. 494-504
ISSN		1061-4036 - Nature genetics
Jezik		eng
Abstrakt		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 % 10-8) 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.
Proste vsebinske oznake		genetika rak kože patogeneza genetic cutaneous melanoma pathogenesis