ArticleHuman molecular genetics2020
Inherited variants at 3q13.33 and 3p24.1 are associated with risk of diffuse large B-cell lymphoma and implicate immune pathways.
Article in Human molecular genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.
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Who cites it
19 citing papers in PubMed, 1 synthesis or guideline pooled it, 26 citations in OpenAlex.
- Genetic susceptibility of diffuse large B-cell lymphoma: a meta genome-wide association study in Asian population.Leukemia · 2025Pooled it
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- European-based polygenic risk score and genome-wide association study of B-cell non-Hodgkin lymphoma subtypes in Israeli Jews and Palestinian Arabs.British journal of haematology · 2025Article
- A genome-wide association study integrated with single-cell and bulk profiles uncovers susceptibility genes for nasopharyngeal carcinoma involved in tumorigenesis via regulation of T cells.Genome biology · 2025Article
- Risk of lymphoid malignancy associated with cancer predisposition genes.Blood cancer journal · 2025Article
- Hidden secrets of the cancer genome: unlocking the impact of non-coding mutations in gene regulatory elements.Cellular and molecular life sciences : CMLS · 2024Review
- Epidemiology and etiology of diffuse large B-cell lymphoma.Seminars in hematology · 2023Article
- Superenhancers as master gene regulators and novel therapeutic targets in brain tumors.Experimental & molecular medicine · 2023Review
- Distinct germline genetic susceptibility profiles identified for common non-Hodgkin lymphoma subtypes.Leukemia · 2022Article
- Etiology of non-Hodgkin lymphoma: A review from epidemiologic studies.Journal of the National Cancer Center · 2022Review
- Extensive Chromatin Structure-Function Associations Revealed by Accurate 3D Compartmentalization Characterization.Frontiers in cell and developmental biology · 2022Article
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- Genetically Engineered Mouse Models Support a Major Role of Immune Checkpoint-Dependent Immunosurveillance Escape in B-Cell Lymphomas.Frontiers in immunology · 2021Review
- Tracking the Genetic Susceptibility Background of B-Cell Non-Hodgkin's Lymphomas from Genome-Wide Association Studies.International journal of molecular sciences · 2020Review
- Targeting complexes of super-enhancers is a promising strategy for cancer therapy.Oncology letters · 2020Review
- Oncogenic seRNA functional activation: a novel mechanism of tumorigenesis.Molecular cancer · 2020Review
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Authors and funding
38 authors at 20 institutions in 10 countries.
Funding
Abstract
We previously identified five single nucleotide polymorphisms (SNPs) at four susceptibility loci for diffuse large B-cell lymphoma (DLBCL) in individuals of European ancestry through a large genome-wide association study (GWAS). To further elucidate genetic susceptibility to DLBCL, we sought to validate two loci at 3q13.33 and 3p24.1 that were suggestive in the original GWAS with additional genotyping. In the meta-analysis (5662 cases and 9237 controls) of the four original GWAS discovery scans and three replication studies, the 3q13.33 locus (rs9831894; minor allele frequency [MAF] = 0.40) was associated with DLBCL risk [odds ratio (OR) = 0.83, P = 3.62 × 10-13]. rs9831894 is in linkage disequilibrium (LD) with additional variants that are part of a super-enhancer that physically interacts with promoters of CD86 and ILDR1. In the meta-analysis (5510 cases and 12 817 controls) of the four GWAS discovery scans and four replication studies, the 3p24.1 locus (rs6773363; MAF = 0.45) was also associated with DLBCL risk (OR = 1.20, P = 2.31 × 10-12). This SNP is 29 426-bp upstream of the nearest gene EOMES and in LD with additional SNPs that are part of a highly lineage-specific and tumor-acquired super-enhancer that shows long-range interaction with AZI2 promoter. These loci provide additional evidence for the role of immune function in the etiology of DLBCL, the most common lymphoma subtype.
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