ArticleCancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology2020
Leveraging Genome and Phenome-Wide Association Studies to Investigate Genetic Risk of Acute Lymphoblastic Leukemia.
Article in Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
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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.
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Who cites it
18 citing papers in PubMed, 1 synthesis or guideline pooled it, 38 citations in OpenAlex.
- Systematic review of Mendelian randomization studies on risk of cancer.BMC medicine · 2022Pooled it
- Association of lipid-lowering drugs with venous thromboembolism outcomes: a phenome-wide association study and a drug-target Mendelian randomization study.Journal of thrombosis and thrombolysis · 2026Article
- Low frequency and rare coding variants affect susceptibility and progression of childhood acute lymphoblastic leukemia.Cancer cell international · 2026Article
- Review
- Integrative multi-omics investigation of sleep apnea: gut microbiome metabolomics, proteomics and phenome-wide association study.Nutrition & metabolism · 2025Article
- The role of IKZF1 rs4132601 and Δ4-7 somatic deletion in acute lymphoblastic leukemia: a bioinformatics and case-control study.Molecular biology reports · 2025Article
- Causal inference of inflammatory proteins in infertility: a Mendelian randomization study.Frontiers in endocrinology · 2025Article
- Advancing allergic rhinitis research through phenome-wide association studies: Insights from known genetic loci.The World Allergy Organization journal · 2025Article
- The multiple roles of interferon regulatory factor family in health and disease.Signal transduction and targeted therapy · 2024Review
- Retinol intake and PCOS management: a plasma metabolite and protein analysis via Mendelian randomization and NHANES 2011-2016.Frontiers in nutrition · 2024Article
- Cis-meQTL for cocaine use-associated DNA methylation in an HIV-positive cohort show pleiotropic effects on multiple traits.BMC genomics · 2023Article
- The genetic risk of acute lymphoblastic leukemia and its implications for children of Latin American origin.Frontiers in oncology · 2023Review
- An integrated genome and phenome-wide association study approach to understanding Alzheimer's disease predisposition.Neurobiology of aging · 2022Article
- Identification of Genomic Variants Associated with the Risk of Acute Lymphoblastic Leukemia in Native Americans from Brazilian Amazonia.Journal of personalized medicine · 2022Article
- Genetic determinants of blood-cell traits influence susceptibility to childhood acute lymphoblastic leukemia.American journal of human genetics · 2021Article
- Phenome-wide and expression quantitative trait locus associations of coronavirus disease 2019 genetic risk loci.iScience · 2021Article
- Genetic variation associated with childhood and adult stature and risk of MYCN-amplified neuroblastoma.Cancer medicine · 2020Article
- PleiotropicNeuro-oncology advancesArticle
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 2 countries.
Funding
Abstract
backgroundGenome-wide association studies (GWAS) of childhood cancers remain limited, highlighting the need for novel analytic strategies. We describe a hybrid GWAS and phenome-wide association study (PheWAS) approach to uncover genotype-phenotype relationships and candidate risk loci, applying it to acute lymphoblastic leukemia (ALL).
methodsPheWAS was performed for 12 ALL SNPs identified by prior GWAS and two control SNP-sets using UK Biobank data. PheWAS-traits significantly associated with ALL SNPs compared with control SNPs were assessed for association with ALL risk (959 cases, 2,624 controls) using polygenic score and Mendelian randomization analyses. Trait-associated SNPs were tested for association with ALL risk in single-SNP analyses, with replication in an independent case-control dataset (1,618 cases, 9,409 controls).
resultsPlatelet count was the trait most enriched for association with known ALL risk loci. A polygenic score for platelet count (223 SNPs) was not associated with ALL risk (
conclusionsIn our hybrid GWAS-PheWAS approach, we identify pleiotropic genetic variation contributing to ALL risk and platelet count. Three SNPs known to influence platelet count were reproducibly associated with ALL risk, implicating genomic regions containing IMPACT: Incorporating PheWAS data into association studies can leverage genetic pleiotropy to identify cancer risk loci, highlighting the utility of our novel approach.
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Registered trials
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.