ArticleGenome research2018
Cell-type-specific eQTL of primary melanocytes facilitates identification of melanoma susceptibility genes.
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Article in Genome research, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 65 papers, 5 of them syntheses that pooled it.
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65citing papers in PubMed, 5 pooled it
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What it found
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Who cites it
65 citing papers in PubMed, 5 syntheses or guidelines pooled it, 87 citations in OpenAlex.
- GWAS meta-analysis provides new insights into uveal melanoma risk.British journal of cancer · 2026Pooled it
- A large-scale genome-wide association meta-analysis for nevus count provides direct insights into the genetics of melanoma.Nature communications · 2026Pooled it
- Cross-ancestry genome-wide meta-analysis of 61,047 cases and 947,237 controls identifies new susceptibility loci contributing to lung cancer.Nature genetics · 2022Pooled it
- Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility.Nature genetics · 2020Pooled it
- Meta-analysis of GWA studies provides new insights on the genetic architecture of skin pigmentation in recently admixed populations.BMC genetics · 2019Pooled 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
- Identification of immune cell type-specific susceptibility genes in multiple cancers using transcriptome-wide association studies.Journal of the National Cancer Institute · 2026Article
- Beyond the Classics: The Synergy of AI and Genomics Reveals an Expanded Repertoire of Pigmentation Genes.Journal of experimental zoology. Part B, Molecular and developmental evolution · 2026Review
- Disruption of CTCF binding by germline non-coding variants inmedRxiv : the preprint server for health sciences · 2026Article
- A high-penetrance intergenic variant at 9p21 confers melanoma susceptibility.Research square · 2026Article
- Haplotype-Based Analysis of OCA2 Variants in Oculocutaneous Albinism.Pigment cell & melanoma research · 2026Article
- eQTL analysis: A bridge from genome to mechanism.Genes & diseases · 2026Review
- Functional characterization of the 9q34.13 locus identifiesbioRxiv : the preprint server for biology · 2026Article
- Functional characterization of a multi-cancer risk locus on chromosome band 2q33.1 nearbioRxiv : the preprint server for biology · 2026Article
- Mapping chromatin interactions at melanoma susceptibility loci uncovers distant cis-regulatory gene targets.American journal of human genetics · 2025Article
- Deep learning predicts DNA methylation regulatory variants in specific brain cell types and enhances fine mapping for brain disorders.Science advances · 2025Article
- Identifying Strong Neoantigen MHC-I/II Binding Candidates for Targeted Immunotherapy with SINE.International journal of molecular sciences · 2024Article
- Genome-Wide European Ancestry Study Identifies Coronary Artery Disease-Associated Loci Through Gene-Sex Hormone Interaction.Journal of the American Heart Association · 2024Article
- Analyzing sex imbalance in EGA and dbGaP biological databases: Recommendations for better practices.iScience · 2024Article
- Transcriptome-Wide Association Study Reveals New Molecular Interactions Associated with Melanoma Pathogenesis.Cancers · 2024Article
5 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
18 authors at 3 institutions in 3 countries.
Tongwu Zhang *Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.
Jiyeon Choi *Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.
Michael A KovacsLaboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.
Jianxin ShiBiostatistics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.
Mai XuLaboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.
NISC Comparative Sequencing Program
Melanoma Meta-Analysis Consortium
Alisa M GoldsteinClinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.
Adam J TrowerSection of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, University of Leeds, Leeds, LS9 7TF, United Kingdom.
D Timothy BishopSection of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, University of Leeds, Leeds, LS9 7TF, United Kingdom.
Mark M IlesSection of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, University of Leeds, Leeds, LS9 7TF, United Kingdom.
David L DuffyStatistical Genetics, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, 4006, Australia.
Stuart MacGregorStatistical Genetics, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, 4006, Australia.
Laufey T AmundadottirLaboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.
Matthew H LawStatistical Genetics, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, 4006, Australia.
Stacie K LoftusGenetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.
William J Pavan *Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.
Kevin M Brown *Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.ORCID 0000-0002-8558-6711
National Institutes of Health · USUniversity of Leeds · GBQIMR Berghofer Medical Research Institute · AU
Funding
Inter- and Intra-Species Comparative SequencingZIBHG000196 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI THOMAS, JAMES · 2009 to 2025
$177.6MTargeting the p53 pathway for reversal of oral premalignancyP50CA097007 · NCI · UNIVERSITY OF TX MD ANDERSON CAN CTR · PI MILLS, GORDON B. · 2002 to 2012
$26.1MUT M.D. Anderson Cancer Center SPORE in MelanomaP50CA093459 · NCI · UNIVERSITY OF TX MD ANDERSON CAN CTR · PI GRIMM, ELIZABETH A · 2004 to 2014
$23.7MGenetic Epidermiology of MelanomaR01CA083115 · NCI · UNIVERSITY OF PENNSYLVANIA · PI BISHOP, DAVID TIMOTHY, ELDER, DAVID ERIC · 2001 to 2017
$13.0MTexas Tech Center for Translational Research and Rural Health - Research Capacity CoreU54MD020892 · NIMHD · TEXAS TECH UNIVERSITY HEALTH SCIS CENTER · PI Lance R. McMahon, Naima Moustaid-Moussa · 2026 to 2026
$10.0MMolecular Epidemiology of Head and Neck CancerR01ES011740 · NIEHS · UNIVERSITY OF TX MD ANDERSON CAN CTR · PI WEI, QINGYI · 2001 to 2012
$6.3MStatistical Methods for Gene Environment Interactions In Lung CancerR01CA133996 · NCI · UNIVERSITY OF TX MD ANDERSON CAN CTR · PI AMOS, CHRISTOPHER I. · 2007 to 2009
$790kCancer Research UK 10589Cancer Research UK 19167Cancer Research UK C1287/A10118Cancer Research UK C490/A10124Cancer Research UK C588/A10589Cancer Research UK C588/A19167Cancer Research UK C588/A4994Cancer Research UK C8216/A6129Medical Research Council MR/L01629X/1NCI NIH HHS P50 CA093459NCI NIH HHS P50 CA097007NCI NIH HHS R01 CA083115NCI NIH HHS R01 CA133996NIEHS NIH HHS R01 ES011740NIMHD NIH HHS U54 MD020892
Abstract
Most expression quantitative trait locus (eQTL) studies to date have been performed in heterogeneous tissues as opposed to specific cell types. To better understand the cell-type-specific regulatory landscape of human melanocytes, which give rise to melanoma but account for <5% of typical human skin biopsies, we performed an eQTL analysis in primary melanocyte cultures from 106 newborn males. We identified 597,335
Indexed as
Genetic Predisposition to DiseaseQuantitative Trait LociBasic Helix-Loop-Helix ProteinsCarrier ProteinsCells, CulturedHeme-Binding ProteinsHemeproteinsHumansInterferon Regulatory Factor-4Interferon Regulatory FactorsLinkage DisequilibriumMelanocytesMelanomaPolymorphism, Single NucleotideRepressor ProteinsBasic Helix-Loop-Helix ProteinsCarrier ProteinsHEBP1 protein, humanHeme-Binding ProteinsHemeproteinsInterferon Regulatory Factor-4Interferon Regulatory FactorsMSC protein, humanRepressor ProteinsZFP90 protein, human
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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.