Genome-wide association study identifies susceptibility loci for B-cell childhood acute lymphoblastic leukemia
Open accessAbstract
Abstract Genome-wide association studies (GWAS) have advanced our understanding of susceptibility to B-cell precursor acute lymphoblastic leukemia (BCP-ALL); however, much of the heritable risk remains unidentified. Here, we perform a GWAS and conduct a meta-analysis with two existing GWAS, totaling 2442 cases and 14,609 controls. We identify risk loci for BCP-ALL at 8q24.21 (rs28665337, P = 3.86 × 10 −9 , odds ratio (OR) = 1.34) and for ETV6-RUNX1 fusion-positive BCP-ALL at 2q22.3 (rs17481869, P = 3.20 × 10 −8 , OR = 2.14). Our findings provide further insights into genetic susceptibility to ALL and its biology.
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
While clonal blood disorders or cancers are thought to primarily arise due to acquisition of somatic mutations in HSCs or other hematopoietic cells, inherited genetic variation can alter this risk significantly.
“For instance, while clonal blood disorders or cancers are thought to primarily arise due to the acquisition of somatic mutations in HSCs or in other hematopoietic cells, it is clear that inherited genetic variation can alter this risk significantly (Bao et al., 2019a; Bick et al., 2019b; Vijayakrishnan et al., 2018; Went et al., 2018).”
From Unraveling Hematopoiesis through the Lens of Genomics (2020) · cites this paper as Vijayakrishnan et al., 2018
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
The citation lists haven’t been fetched yet
References 73 · Cited by 84
Research works printed but not linked: 1
- [15]Pradel LC Vanhille L Spicuglia S The European Blueprint project: towards a full epigenome characterization of the immune system Med. Sci. 2015 31 236 238 25855271
- Authors
- Vijayakrishnan, J., Studd, J., Broderick, P., Kinnersley, B., Holroyd, A., Law, P. J., Kumar, R., Allan, J. M., Harrison, C. J., Moorman, A. V., Vora, A., Roman, E., Rachakonda, S., Kinsey, S. E., Sheridan, E., Thompson, P. D., Irving, J. A., Koehler, R., Hoffmann, P., Nöthen, M. M., Heilmann-Heimbach, S., Jöckel, K.-H., Easton, D. F., Pharaoh, P. D. P., Dunning, A. M., Peto, J., Canzian, F., Swerdlow, A., Eeles, R. A., Kote-Jarai, Z., Muir, K., Pashayan, N., The PRACTICAL Consortium, Henderson, B. E., Haiman, C. A., Benlloch, S., Schumacher, F. R., Olama, A. A. A., Berndt, S. I., Conti, D. V., Wiklund, F., Chanock, S., Stevens, V. L., Tangen, C. M., Batra, J., Clements, J., Gronberg, H., Schleutker, J., Albanes, D., Weinstein, S., Wolk, A., West, C., Mucci, L., Cancel-Tassin, G., Koutros, S., Sorensen, K. D., Maehle, L., Neal, D. E., Travis, R. C., Hamilton, R. J., Ingles, S. A., Rosenstein, B., Lu, Y.-J., Giles, G. G., Kibel, A. S., Vega, A., Kogevinas, M., Penney, K. L., Park, J. Y., Stanford, J. L., Cybulski, C., Nordestgaard, B. G., Brenner, H., Maier, C., Kim, J., John, E. M., Teixeira, M. R., Neuhausen, S. L., De Ruyck, K., Razack, A., Newcomb, L. F., Lessel, D., Kaneva, R., Usmani, N., Claessens, F., Townsend, P. A., Gago-Dominguez, M., Roobol, M. J., Menegaux, F., Greaves, M., Zimmerman, M., Bartram, C. R., Schrappe, M., Stanulla, M., Hemminki, K., & Houlston, R. S.
- Affiliations
- Institute of Cancer Research (GB)
- German Cancer Research Center (DE)
- Newcastle University (GB)
- Great Ormond Street Hospital (GB)
- University of York (GB)
- Leeds General Infirmary (GB)
- University of Leeds (GB)
- St Mary's Hospital (GB)
- Heidelberg University (DE)
- University of Bonn (DE)
- Essen University Hospital (DE)
- University of Cambridge (GB)
- London School of Hygiene & Tropical Medicine (GB)
- Royal Marsden NHS Foundation Trust (GB)
- University of Manchester (GB)
- University of Southern California (US)
- University Hospitals of Cleveland (US)
- National Institutes of Health (US)
- Karolinska Institutet (SE)
- American Cancer Society (US)
- Fred Hutch Cancer Center (US)
- Translational Research Institute (AU)
- University of Turku (FI)
- Manchester Academic Health Science Centre (GB)
- Harvard University (US)
- University of Oxford (GB)
- Princess Margaret Cancer Centre (CA)
- Icahn School of Medicine at Mount Sinai (US)
- Queen Mary University of London (GB)
- The University of Melbourne (AU)
- Brigham and Women's Hospital (US)
- Fundación Pública Galega de Medicina Xenómica (ES)
- Universitat Pompeu Fabra (ES)
- Moffitt Cancer Center (US)
- University of Washington (US)
- International Hereditary Cancer Center (PL)
- University of Copenhagen (DK)
- University Hospital Ulm (DE)
- The University of Texas MD Anderson Cancer Center (US)
- Cancer Prevention Institute of California (US)
- Universidade do Porto (PT)
- Beckman Research Institute (US)
- University of Malaya (MY)
- University Medical Center Hamburg-Eppendorf (DE)
- Medical University of Sofia (BG)
- University of Alberta (CA)
- KU Leuven (BE)
- Erasmus MC (NL)
- Inserm (FR)
- Medizinische Hochschule Hannover (DE)
- University Hospital Schleswig-Holstein (DE)
- Corresponding author
- Houlston, Richard S.
- ORCID
- Vijayakrishnan, Jayaram
- Studd, James
- Broderick, Peter
- Kinnersley, Ben
- Law, Philip J.
- Kumar, Rajiv
- Allan, James M.
- Harrison, Christine J.
- Moorman, Anthony V.
- Vora, Ajay
- Roman, Eve
- Kinsey, Sally E.
- Sheridan, Eamonn
- Thompson, Pamela D.
- Irving, Julie A.
- Hoffmann, Per
- Nöthen, Markus M.
- Jöckel, Karl-Heinz
- Easton, Douglas F.
- Pharaoh, Paul D. P.
- Dunning, Alison M.
- Peto, Julian
- Canzian, Frederico
- Swerdlow, Anthony
- Eeles, Rosalind A.
- Muir, Kenneth
- Pashayan, Nora
- Haiman, Christopher A.
- Schumacher, Fredrick R.
- Olama, Ali Amin Al
- Berndt, Sonja I.
- Conti, David V.
- Chanock, Stephen
- Stevens, Victoria L.
- Tangen, Catherine M.
- Batra, Jyotsna
- Clements, Judith
- Schleutker, Johanna
- Albanes, Demetrius
- Weinstein, Stephanie
- Wolk, Alicja
- West, Catharine
- Mucci, Lorelei
- Koutros, Stella
- Neal, David E.
- Travis, Ruth C.
- Hamilton, Robert J.
- Ingles, Sue Ann
- Rosenstein, Barry
- Lu, Yong-Jie
- Giles, Graham G.
- Kibel, Adam S.
- Vega, Ana
- Kogevinas, Manolis
- Penney, Kathryn L.
- Park, Jong Y.
- Stanford, Janet L.
- Cybulski, Cezary
- Nordestgaard, Børge G.
- Brenner, Hermann
- Kim, Jeri
- John, Esther M.
- Teixeira, Manuel R.
- Neuhausen, Susan L.
- Razack, Azad
- Newcomb, Lisa F.
- Lessel, Davor
- Kaneva, Radka
- Usmani, Nawaid
- Claessens, Frank
- Townsend, Paul A.
- Roobol, Monique J.
- Schrappe, Martin
- Stanulla, Martin
- Hemminki, Kari
- Houlston, Richard S.
- Venue
- Nature Communications
- Published
- 2018-04-09
- Volume
- 9
- Issue
- 1
- Pages
- 1340-1340
- ISSN
- 2041-1723 (ISSN-L)
- PMC
- PMC5890276
- OpenAlex
- W2796231191
- Cited by
- 84
- References
- 73
- Citations by year
- 2026: 6 · 2025: 6 · 2024: 5 · 2023: 10 · 2022: 7 · 2021: 13 · 2020: 21 · 2019: 14 · 2018: 2
- FWCI
- 11.92
- Type
- journal article
- Language
- en
- Update notices
- correction (2019-01-21)
- Open access
- gold
- doi.org
- Locations
- Nature Communications (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Research Explorer (The University of Manchester) (publishedVersion, cc-by)
- Research at the University of Copenhagen (University of Copenhagen) (publishedVersion, cc-by)
- EUR Research Repository (Erasmus University Rotterdam) (publishedVersion, other-oa)
- Tampere University Institutional Repository (Tampere University) (publishedVersion, cc-by)
- White Rose Research Online (University of Leeds, The University of Sheffield, University of York) (acceptedVersion)
- LSHTM Research Online (London School of Hygiene and Tropical Medicine) (acceptedVersion)
- QUT ePrints (Queensland University of Technology) (submittedVersion, cc-by)
- Minerva Access (University of Melbourne) (submittedVersion, cc-by)
- Lirias (submittedVersion, cc-by)
- Digital Access to Scholarship at Harvard (DASH) (Harvard University) (submittedVersion, cc-by)
- EUR Research Repository (Erasmus University Rotterdam) (submittedVersion, other-oa)
- RePub (Erasmus University Rotterdam) (submittedVersion, other-oa)
- RePEc: Research Papers in Economics (submittedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion)
- UCL Discovery (University College London) (submittedVersion)
- Lund University Publications (Lund University) (submittedVersion)
- Scopus (Elsevier) (submittedVersion)
- Tampere University Institutional Repository (Tampere University) (submittedVersion, cc-by)
- Warwick Research Archive Portal (University of Warwick) (submittedVersion)
- Apollo (University of Cambridge) (submittedVersion, cc-by)
- Apollo (cc-by)
- Funders
- Cancer Research UK (16561, 15007, 16491, 17528)
- National Institute for Health and Care Research (NF-SI-0510-10096)
- Topics
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Acute Lymphoblastic Leukemia research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Health Sciences › Medicine › Pathology and Forensic Medicine › Lymphoma Diagnosis and Treatment
- Keywords
- B-cell precursor acute lymphoblastic leukemia, pediatric leukemia, genetic susceptibility, genetic susceptibility loci, 8q24.21, ETV6-RUNX1, heritability, leukemia genetics
- MeSH terms
- ETS Translocation Variant 6 Protein, Child, Child, Preschool, Female, HLA Antigens, Humans, Male, Prognosis, Risk Factors, Precursor B-Cell Lymphoblastic Leukemia-Lymphoma, Oncogene Proteins, Fusion, Glycosyltransferases, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Core Binding Factor Alpha 2 Subunit, Genome-Wide Association Study
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
