King's College London

Research portal

Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility

Research output: Contribution to journalArticle

Standard

Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility. / AMFS Investigators; MelaNostrum Consortium; GenoMEL Consortium; Q-MEGA and QTWIN Investigators; ATHENS Melanoma Study Group; 23andMe; The SDH Study Group; IBD Investigators; Essen-Heidelberg Investigators.

In: Nature Genetics, Vol. 52, No. 5, 01.05.2020, p. 494-504.

Research output: Contribution to journalArticle

Harvard

AMFS Investigators, MelaNostrum Consortium, GenoMEL Consortium, Q-MEGA and QTWIN Investigators, ATHENS Melanoma Study Group, 23andMe, The SDH Study Group, IBD Investigators & Essen-Heidelberg Investigators 2020, 'Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility', Nature Genetics, vol. 52, no. 5, pp. 494-504. https://doi.org/10.1038/s41588-020-0611-8

APA

AMFS Investigators, MelaNostrum Consortium, GenoMEL Consortium, Q-MEGA and QTWIN Investigators, ATHENS Melanoma Study Group, 23andMe, ... Essen-Heidelberg Investigators (2020). Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility. Nature Genetics, 52(5), 494-504. https://doi.org/10.1038/s41588-020-0611-8

Vancouver

AMFS Investigators, MelaNostrum Consortium, GenoMEL Consortium, Q-MEGA and QTWIN Investigators, ATHENS Melanoma Study Group, 23andMe et al. Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility. Nature Genetics. 2020 May 1;52(5):494-504. https://doi.org/10.1038/s41588-020-0611-8

Author

AMFS Investigators ; MelaNostrum Consortium ; GenoMEL Consortium ; Q-MEGA and QTWIN Investigators ; ATHENS Melanoma Study Group ; 23andMe ; The SDH Study Group ; IBD Investigators ; Essen-Heidelberg Investigators. / Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility. In: Nature Genetics. 2020 ; Vol. 52, No. 5. pp. 494-504.

Bibtex Download

@article{035eb284ed514d8db0c4a721f7adbbf3,
title = "Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility",
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 × 10−8) 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.",
author = "{AMFS Investigators} and {MelaNostrum Consortium} and {GenoMEL Consortium} and {Q-MEGA and QTWIN Investigators} and {ATHENS Melanoma Study Group} and 23andMe and {The SDH Study Group} and {IBD Investigators} and {Essen-Heidelberg Investigators} and Landi, {Maria Teresa} and Bishop, {D. Timothy} and Stuart MacGregor and Machiela, {Mitchell J.} and Stratigos, {Alexander J.} and Paola Ghiorzo and Myriam Brossard and Donato Calista and Jiyeon Choi and Fargnoli, {Maria Concetta} and Tongwu Zhang and Monica Rodolfo and Trower, {Adam J.} and Chiara Menin and Jacobo Martinez and Andreas Hadjisavvas and Lei Song and Irene Stefanaki and Richard Scolyer and Rose Yang and Goldstein, {Alisa M.} and Miriam Potrony and Kypreou, {Katerina P.} and Lorenza Pastorino and Paola Queirolo and Cristina Pellegrini and Laura Cattaneo and Matthew Zawistowski and Pol Gimenez-Xavier and Arantxa Rodriguez and Lisa Elefanti and Siranoush Manoukian and Licia Rivoltini and Smith, {Blair H.} and Loizidou, {Maria A.} and {Del Regno}, Laura and Daniela Massi and Mario Mandala and Kiarash Khosrotehrani and Akslen, {Lars A.} and Amos, {Christopher I.} and Andresen, {Per A.} and Avril, {Marie Fran{\cc}oise} and Esther Azizi and Soyer, {H. Peter} and Veronique Bataille and Mario Falchi and Scott Gordon and Marianna Sanna and Alessia Visconti",
year = "2020",
month = "5",
day = "1",
doi = "10.1038/s41588-020-0611-8",
language = "English",
volume = "52",
pages = "494--504",
journal = "Nature Genetics",
issn = "1061-4036",
publisher = "Nature Publishing Group, a division of Macmillan Publishers Limited. All Rights Reserved. SN -",
number = "5",

}

RIS (suitable for import to EndNote) Download

TY - JOUR

T1 - Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility

AU - AMFS Investigators

AU - MelaNostrum Consortium

AU - GenoMEL Consortium

AU - Q-MEGA and QTWIN Investigators

AU - ATHENS Melanoma Study Group

AU - 23andMe

AU - The SDH Study Group

AU - IBD Investigators

AU - Essen-Heidelberg Investigators

AU - Landi, Maria Teresa

AU - Bishop, D. Timothy

AU - MacGregor, Stuart

AU - Machiela, Mitchell J.

AU - Stratigos, Alexander J.

AU - Ghiorzo, Paola

AU - Brossard, Myriam

AU - Calista, Donato

AU - Choi, Jiyeon

AU - Fargnoli, Maria Concetta

AU - Zhang, Tongwu

AU - Rodolfo, Monica

AU - Trower, Adam J.

AU - Menin, Chiara

AU - Martinez, Jacobo

AU - Hadjisavvas, Andreas

AU - Song, Lei

AU - Stefanaki, Irene

AU - Scolyer, Richard

AU - Yang, Rose

AU - Goldstein, Alisa M.

AU - Potrony, Miriam

AU - Kypreou, Katerina P.

AU - Pastorino, Lorenza

AU - Queirolo, Paola

AU - Pellegrini, Cristina

AU - Cattaneo, Laura

AU - Zawistowski, Matthew

AU - Gimenez-Xavier, Pol

AU - Rodriguez, Arantxa

AU - Elefanti, Lisa

AU - Manoukian, Siranoush

AU - Rivoltini, Licia

AU - Smith, Blair H.

AU - Loizidou, Maria A.

AU - Del Regno, Laura

AU - Massi, Daniela

AU - Mandala, Mario

AU - Khosrotehrani, Kiarash

AU - Akslen, Lars A.

AU - Amos, Christopher I.

AU - Andresen, Per A.

AU - Avril, Marie Françoise

AU - Azizi, Esther

AU - Soyer, H. Peter

AU - Bataille, Veronique

AU - Falchi, Mario

AU - Gordon, Scott

AU - Sanna, Marianna

AU - Visconti, Alessia

PY - 2020/5/1

Y1 - 2020/5/1

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=85084007486&partnerID=8YFLogxK

U2 - 10.1038/s41588-020-0611-8

DO - 10.1038/s41588-020-0611-8

M3 - Article

C2 - 32341527

AN - SCOPUS:85084007486

VL - 52

SP - 494

EP - 504

JO - Nature Genetics

JF - Nature Genetics

SN - 1061-4036

IS - 5

ER -

View graph of relations

© 2018 King's College London | Strand | London WC2R 2LS | England | United Kingdom | Tel +44 (0)20 7836 5454