Genetic Epidemiology, Translational Neurogenomics, Psychiatric Genetics and Statistical Genetics Laboratories investigate the pattern of disease in families, particularly identical and non-identical twins, to assess the relative importance of genes and environment in a variety of important health problems.
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PMID
34813871
TITLE
Multi-trait genetic analysis identifies auto-immune loci associated with cutaneous melanoma.
ABSTRACT
Genome-wide association studies (GWAS) have identified a number of risk loci for cutaneous melanoma. Cutaneous melanoma shares overlapping genetic risk (genetic correlation) with a number of other traits, including with its risk factors such as sunburn propensity. This genetic correlation can be exploited to identify additional cutaneous melanoma risk loci by multi-trait analysis of GWAS (MTAG). We used bivariate LD-score regression to identify traits that are genetically correlated with clinically-confirmed cutaneous melanoma, and then used publicly available GWAS for these traits in a MTAG. MTAG allows GWAS to be combined while accounting for sample overlap and incomplete genetic correlation. We identified a total of 74 genome-wide independent loci; 19 of them were not previously reported in the input cutaneous melanoma GWAS-meta-analysis. 55 of these loci were replicated (P < 0.05/74), Bonferroni corrected P -value in two independent cutaneous melanoma replication cohorts from Melanoma Institute Australia and 23andMe, Inc. Among the new cutaneous melanoma loci are ones that have also been associated with autoimmune traits including rs715199 near LPP, and rs10858023 near AP4B1. Our analysis indicates genetic correlation between traits can be leveraged to identify new risk genes for cutaneous melanoma.
Copyright © 2021 The Authors. Published by Elsevier Inc. All rights reserved.
DATE PUBLISHED
2021 Nov 20
HISTORY
PUBSTATUS PUBSTATUSDATE
received 2021/03/03
revised 2021/08/23
accepted 2021/08/25
entrez 2021/11/23 20:14
pubmed 2021/11/24 06:00
medline 2021/11/24 06:00
AUTHORS
NAME COLLECTIVENAME LASTNAME FORENAME INITIALS AFFILIATION AFFILIATIONINFO
Liyanage U Liyanage Upekha U Statistical Genetics Lab, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia; Faculty of Medicine, the University of Queensland, Herston, Brisbane, QLD 4006, Australia. Electronic address: Upekha.Liyanage@qimrberghofer.edu.au.
MacGregor S MacGregor Stuart S Statistical Genetics Lab, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia.
Bishop DT Bishop D Timothy DT Leeds Institute of Medical Research at St James's, Leeds Institute for Data Analytics, University of Leeds, Leeds, UK LS2 9NL.
Shi J Shi Jianxin J Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, 20850, USA.
An J An Jiyuan J Statistical Genetics Lab, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia.
Ong JS Ong Jue Sheng JS Statistical Genetics Lab, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia.
Han X Han Xikun X Statistical Genetics Lab, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia.
Scolyer RA Scolyer Richard A RA Melanoma Institute Australia, The University of Sydney, Sydney, NSW, 2065, Australia; Faculty of Medicine and Health, The University of Sydney, Sydney, NSW, 2050, Australia; Tissue Pathology and Diagnostic Oncology, Royal Prince Alfred Hospital and NSW Health Pathology, Sydney, NSW, 2050, Australia.
Martin NG Martin Nicholas G NG Genetic Epidemiology, QIMR Berghofer Medical Research Institute, 300 Herston road, Brisbane, QLD 4006.
Medland SE Medland Sarah E SE Genetic Epidemiology, QIMR Berghofer Medical Research Institute, 300 Herston road, Brisbane, QLD 4006.
Byrne EM Byrne Enda M EM Institute for Molecular Bioscience, University of Queensland, Brisbane, Queensland, Australia.
Green AC Green Adèle C AC Population Health Department, QIMR Berghofer Medical Research Institute, 300 Herston road, Brisbane, QLD 4006; Cancer Research UK Manchester Institute and Faculty of Biology Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, SK10 4TG, UK.
Saw RPM Saw Robyn P M RPM Melanoma Institute Australia, The University of Sydney, Sydney, NSW, 2065, Australia; Faculty of Medicine and Health, The University of Sydney, Sydney, NSW, 2050, Australia; Department of Melanoma, Mater Hospital, North Sydney, NSW, 2060, Australia; Royal Prince Alfred Hospital Department of Melanoma and Surgical Oncology, Sydney, NSW, 2050, Australia.
Thompson JF Thompson John F JF Melanoma Institute Australia, The University of Sydney, Sydney, NSW, 2065, Australia; Faculty of Medicine and Health, The University of Sydney, Sydney, NSW, 2050, Australia; Department of Melanoma, Mater Hospital, North Sydney, NSW, 2060, Australia.
Stretch J Stretch Jonathan J Melanoma Institute Australia, The University of Sydney, Sydney, NSW, 2065, Australia; Faculty of Medicine and Health, The University of Sydney, Sydney, NSW, 2050, Australia; Tissue Pathology and Diagnostic Oncology, Royal Prince Alfred Hospital and NSW Health Pathology, Sydney, NSW, 2050, Australia.
Spillane A Spillane Andrew A Melanoma Institute Australia, The University of Sydney, Sydney, NSW, 2065, Australia; Faculty of Medicine and Health, The University of Sydney, Sydney, NSW, 2050, Australia.
Jiang Y Jiang Yunxuan Y 23andMe Research Team, 23andMe Inc., Sunnyvale, CA 94086, USA.
Tian C Tian Chao C 23andMe Research Team, 23andMe Inc., Sunnyvale, CA 94086, USA.
23andMe Research Team 23andMe Research Team, 23andMe Inc., Sunnyvale, CA 94086, USA.
Gordon SG Gordon Scott G SG Genetic Epidemiology, QIMR Berghofer Medical Research Institute, 300 Herston road, Brisbane, QLD 4006.
Duffy DL Duffy David L DL Genetic Epidemiology, QIMR Berghofer Medical Research Institute, 300 Herston road, Brisbane, QLD 4006.
Olsen CM Olsen Catherine M CM Cancer Control Group, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia; Faculty of Medicine, the University of Queensland, Herston, Brisbane, QLD 4006, Australia.
Whiteman DC Whiteman David C DC Cancer Control Group, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia.
Long GV Long Georgina V GV Melanoma Institute Australia, The University of Sydney, Sydney, NSW, 2065, Australia; Faculty of Medicine and Health, The University of Sydney, Sydney, NSW, 2050, Australia; Department of Medical Oncology, Mater Hospital, North Sydney, NSW 2060 Australia; Department of Medical Oncology, Royal North Shore Hospital, St Leonards, NSW 2065, Australia.
Iles MM Iles Mark M MM Leeds Institute of Medical Research at St James's, Leeds Institute for Data Analytics, University of Leeds, Leeds, UK LS2 9NL.
Landi MT Landi Maria Teresa MT Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, 20850, USA.
Law MH Law Matthew H MH Statistical Genetics Lab, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia; Statistical Genetics Lab, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia.
INVESTIGATORS
JOURNAL
VOLUME:
ISSUE:
TITLE: The Journal of investigative dermatology
ISOABBREVIATION: J Invest Dermatol
YEAR: 2021
MONTH: Nov
DAY: 20
MEDLINEDATE:
SEASON:
CITEDMEDIUM: Internet
ISSN: 1523-1747
ISSNTYPE: Electronic
MEDLINE JOURNAL
MEDLINETA: J Invest Dermatol
COUNTRY: United States
ISSNLINKING: 0022-202X
NLMUNIQUEID: 0426720
PUBLICATION TYPE
PUBLICATIONTYPE TEXT
Journal Article
COMMENTS AND CORRECTIONS
GRANTS
GENERAL NOTE
KEYWORDS
KEYWORD
Autoimmune
Melanoma
Multi-trait analysis of GWAS
Pigmentation
genetic correlation
MESH HEADINGS
SUPPLEMENTARY MESH
GENE SYMBOLS
CHEMICALS
OTHER ID's
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