SynthesisNature communications2018
Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways.
Erratum issuedOpen access · goldAbstract readMeta-Analysis
In one paragraph
Synthesis in Nature communications, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 67 papers, 5 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
67citing papers in PubMed, 5 pooled it
7.5field-weighted citation impact, top 2% of its field
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
67 citing papers in PubMed, 5 syntheses or guidelines pooled it, 119 citations in OpenAlex.
- A large-scale genome-wide association meta-analysis for nevus count provides direct insights into the genetics of melanoma.Nature communications · 2026Pooled it
- Higher polygenic risk for melanoma is associated with improved survival in a high ultraviolet radiation setting.Journal of translational medicine · 2022Pooled it
- A multi-level investigation of the genetic relationship between endometriosis and ovarian cancer histotypes.Cell reports. Medicine · 2022Pooled it
- Cross-cancer evaluation of polygenic risk scores for 16 cancer types in two large cohorts.Nature communications · 2021Pooled it
- Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility.Nature genetics · 2020Pooled it
- Functional characterization of the 9q34.13 locus identifies RAPGEF1 as a candidate gene modulating risk for melanoma and nevi via RAS activation.American journal of human genetics · 2026Article
- Unique Features of Melanoma Risk and Diagnosis in Red-Haired Populations.International journal of molecular sciences · 2026Review
- A high-penetrance intergenic variant at 9p21 confers melanoma susceptibility.Research square · 2026Article
- Functional characterization of the 9q34.13 locus identifiesbioRxiv : the preprint server for biology · 2026Article
- Female Reproductive Factors in Relation to Risk of Exfoliation Glaucoma or Glaucoma Suspect.American journal of ophthalmology · 2025Observational
- Metabolomic Signatures and Predictive Utility ofMetabolites · 2025Article
- Mapping chromatin interactions at melanoma susceptibility loci uncovers distant cis-regulatory gene targets.American journal of human genetics · 2025Article
- Assessment of the Influence of UVR in Cutaneous Melanoma.Photodermatology, photoimmunology & photomedicine · 2025Review
- Age-Related Variations in Clinical, Histological, and Genetic Characteristics in Multiple and Familial Melanomas: A Study of 333 Patients.Journal of clinical medicine · 2025Article
- In vivo investigation of STN1 downregulation in melanoma formation in adult mice following UV irradiation.PloS one · 2025Article
- A genetically informed study reveals modifiable pathways in skin cancer.Journal of translational medicine · 2024Article
- Nevi and Melanoma.Hematology/oncology clinics of North America · 2024Review
- Genetic effects on the skin methylome in healthy older twins.American journal of human genetics · 2024Article
- Oxidative Metabolism as a Cause of Lipid Peroxidation in the Execution of Ferroptosis.International journal of molecular sciences · 2024Review
- Variant ranking pipeline for complex familial disorders.Scientific reports · 2024Article
7 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issued
Authors and funding
45 authors at 20 institutions in 16 countries.
David L DuffyQIMR Berghofer Medical Research Institute, Brisbane, Australia. David.Duffy@qimrberghofer.edu.au.ORCID http://orcid.org/0000-0001-7227-632X
Gu ZhuQIMR Berghofer Medical Research Institute, Brisbane, Australia.
Xin LiDepartment of Epidemiology, Richard M. Fairbanks School of Public Health, Melvin and Bren Simon Cancer Center, Indiana University, Indianapolis, IN, 63110, USA.
Marianna SannaDepartment of Twin Research & Genetic Epidemiology, St Thomas Hospital Campus, Kings College, London, UK.
Mark M IlesSection of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, University of Leeds, Leeds, UK.
Leonie C JacobsDepartment of Dermatology, Erasmus MC, University Medical Centre Rotterdam, Rotterdam, The Netherlands.
David M EvansMRC Integrative Epidemiology Unit, University of Bristol, Bristol, UK.
Seyhan YazarCentre for Ophthalmology and Vision Science, University of Western Australia and the Lions Eye Institute, Perth, Australia.ORCID http://orcid.org/0000-0003-0994-6196
Jonathan BeesleyQIMR Berghofer Medical Research Institute, Brisbane, Australia.
Matthew H LawQIMR Berghofer Medical Research Institute, Brisbane, Australia.ORCID http://orcid.org/0000-0002-4303-8821
Peter KraftDepartment of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, 02115, MA, USA.
Alessia ViscontiDepartment of Twin Research & Genetic Epidemiology, St Thomas Hospital Campus, Kings College, London, UK.ORCID http://orcid.org/0000-0003-4144-2019
John C TaylorSection of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, University of Leeds, Leeds, UK.ORCID http://orcid.org/0000-0002-2518-5799
Fan LiuDepartment of Genetic Identification, Erasmus MC, University Medical Centre Rotterdam, Rotterdam, The Netherlands.
Margaret J WrightQIMR Berghofer Medical Research Institute, Brisbane, Australia.ORCID http://orcid.org/0000-0001-7133-4970
Anjali K HendersQIMR Berghofer Medical Research Institute, Brisbane, Australia.
Lisa BowdlerQIMR Berghofer Medical Research Institute, Brisbane, Australia.
Dan GlassDepartment of Twin Research & Genetic Epidemiology, St Thomas Hospital Campus, Kings College, London, UK.
M Arfan IkramDepartment of Epidemiology, Erasmus MC, Rotterdam, Netherlands.ORCID http://orcid.org/0000-0003-0372-8585
André G UitterlindenDepartment of Epidemiology, Erasmus MC, Rotterdam, Netherlands.
Pamela A MaddenDepartment of Psychiatry, Washington University School of Medicine, St. Louis, MO, 63110, USA.
Andrew C HeathDepartment of Psychiatry, Washington University School of Medicine, St. Louis, MO, 63110, USA.
Elliot C NelsonDepartment of Psychiatry, Washington University School of Medicine, St. Louis, MO, 63110, USA.
Adele C GreenQIMR Berghofer Medical Research Institute, Brisbane, Australia.ORCID http://orcid.org/0000-0002-2753-4841
Stephen ChanockDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA.ORCID http://orcid.org/0000-0002-2324-3393
Jennifer H BarrettSection of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, University of Leeds, Leeds, UK.ORCID http://orcid.org/0000-0002-1720-7724
Matthew A BrownUniversity of Queensland Diamantina Institute, Translational Research Institute, Brisbane, Australia.ORCID http://orcid.org/0000-0003-0538-8211
Nicholas K HaywardQIMR Berghofer Medical Research Institute, Brisbane, Australia.
Stuart MacGregorQIMR Berghofer Medical Research Institute, Brisbane, Australia.ORCID http://orcid.org/0000-0001-6731-8142
Richard A SturmDermatology Research Centre, University of Queensland Diamantina Institute, Translational Research Institute, Brisbane, Australia.
Alex W HewittCentre for Ophthalmology and Vision Science, University of Western Australia and the Lions Eye Institute, Perth, Australia.ORCID http://orcid.org/0000-0002-5123-5999
Melanoma GWAS Consortium
Manfred KayserDepartment of Genetic Identification, Erasmus MC, University Medical Centre Rotterdam, Rotterdam, The Netherlands.ORCID http://orcid.org/0000-0002-4958-847X
David J HunterDepartment of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, 02115, MA, USA.
Julia A Newton BishopSection of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, University of Leeds, Leeds, UK.
Timothy D SpectorDepartment of Twin Research & Genetic Epidemiology, St Thomas Hospital Campus, Kings College, London, UK.
Grant W MontgomeryQIMR Berghofer Medical Research Institute, Brisbane, Australia.ORCID http://orcid.org/0000-0002-4140-8139
David A MackeyCentre for Ophthalmology and Vision Science, University of Western Australia and the Lions Eye Institute, Perth, Australia.ORCID http://orcid.org/0000-0001-7914-4709
George Davey SmithMRC Integrative Epidemiology Unit, University of Bristol, Bristol, UK.
Tamar E NijstenDepartment of Dermatology, Erasmus MC, University Medical Centre Rotterdam, Rotterdam, The Netherlands.
D Timothy BishopSection of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, University of Leeds, Leeds, UK.ORCID http://orcid.org/0000-0002-8752-8785
Veronique BatailleDepartment of Twin Research & Genetic Epidemiology, St Thomas Hospital Campus, Kings College, London, UK.
Mario FalchiDepartment of Twin Research & Genetic Epidemiology, St Thomas Hospital Campus, Kings College, London, UK.
Jiali HanDepartment of Epidemiology, Richard M. Fairbanks School of Public Health, Melvin and Bren Simon Cancer Center, Indiana University, Indianapolis, IN, 63110, USA.
Nicholas G MartinQIMR Berghofer Medical Research Institute, Brisbane, Australia.
QIMR Berghofer Medical Research Institute · AUUniversity of Leeds · GBErasmus MC · NLSt Thomas' Hospital · GBLeiden University Medical Center · NLNational Institutes of Health · USUniversity of Cambridge · GBLions Eye Institute · AUThe University of Texas MD Anderson Cancer Center · USTranslational Research Institute · AUWashington University in St. Louis · USHarvard University · USIndiana University Health · USInserm · FRInstitute of Cancer Research · GBInstitute of Oncology Ljubljana · SIInternational Hereditary Cancer Center · PLKarolinska University Hospital · SELund University · SENational and Kapodistrian University of Athens · GR
Funding
X-RAY CRYSTALLOGRAPHYP30CA008748 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI Hongbiao Carl Lekaye · 1985 to 2026
$347.4MCancer Research UK 10589Cancer Research UK 16563Cancer Research UK 16565Cancer Research UK 19167Medical Research Council MC_UU_00011/1Medical Research Council MC_UU_12013/4Medical Research Council MR/L01629X/1NCI NIH HHS P30 CA008748
Abstract
The total number of acquired melanocytic nevi on the skin is strongly correlated with melanoma risk. Here we report a meta-analysis of 11 nevus GWAS from Australia, Netherlands, UK, and USA comprising 52,506 individuals. We confirm known loci including MTAP, PLA2G6, and IRF4, and detect novel SNPs in KITLG and a region of 9q32. In a bivariate analysis combining the nevus results with a recent melanoma GWAS meta-analysis (12,874 cases, 23,203 controls), SNPs near GPRC5A, CYP1B1, PPARGC1B, HDAC4, FAM208B, DOCK8, and SYNE2 reached global significance, and other loci, including MIR146A and OBFC1, reached a suggestive level. Overall, we conclude that most nevus genes affect melanoma risk (KITLG an exception), while many melanoma risk loci do not alter nevus count. For example, variants in TERC and OBFC1 affect both traits, but other telomere length maintenance genes seem to affect melanoma risk only. Our findings implicate multiple pathways in nevogenesis.
Indexed as
Carrier ProteinsCytochrome P-450 CYP1B1Genetic PleiotropyGenetic Predisposition to DiseaseGenome-Wide Association StudyGroup VI Phospholipases A2Guanine Nucleotide Exchange FactorsHistone DeacetylasesHumansInterferon Regulatory Factor-4Interferon Regulatory FactorsMelanomaMicrofilament ProteinsMicroRNAsNerve Tissue ProteinsNevus, PigmentedCarrier ProteinsCYP1B1 protein, humanCytochrome P-450 CYP1B1DOCK8 protein, humanGPRC5A protein, humanGroup VI Phospholipases A2Guanine Nucleotide Exchange FactorsHDAC4 protein, humanHistone DeacetylasesInterferon Regulatory Factor-4Interferon Regulatory FactorsKITLG protein, humanMicrofilament ProteinsMicroRNAsMIRN146 microRNA, humanNerve Tissue ProteinsNuclear ProteinsPLA2G6 protein, humanPPARGC1B protein, humanReceptors, G-Protein-CoupledRepressor ProteinsRNARNA-Binding ProteinsStem Cell FactorStn1 protein, humanSYNE2 protein, humanTelomerasetelomerase RNATelomere-Binding Proteins
Identifiers
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Read underepoch 390
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.