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Record W2968755345 · doi:10.1002/gepi.22242

Genetic overlap between autoimmune diseases and non‐Hodgkin lymphoma subtypes

2019· article· en· W2968755345 on OpenAlexafffund
Lennox Din, Mohammad Sheikh, Nikitha Kosaraju, Karin E. Smedby, Sasha Bernatsky, Sonja I. Berndt, Christine F. Skibola, Alexandra Nieters, Sophia Wang, James McKay, Pierluigi Cocco, Marc Maynadié, Lenka Foretová, Anthony Staines, Thomas M. Mack, Sílvia de Sanjosé, Timothy J. Vyse, Leonid Padyukov, Alain Monnereau, Alan A. Arslan, Amy Moore, Angela Brooks‐Wilson, Anne J. Novak, Bengt Glimelius, Brenda M. Birmann, Brian K. Link, Carolyn Stewart, Claire M. Vajdic, Corinne Haïoun, Corrado Magnani, David V. Conti, David G. Cox, Delphine Casabonne, Demetrius Albanes, Eleanor Kane, Eve Roman, Giacomo Muzi, Gilles Salles, Graham G. Giles, Hans‐Olov Adami, Hervé Ghesquières, Immaculata De Vivo, Jacqueline Clavel, James R. Cerhan, John J. Spinelli, Jonathan N. Hofmann, Joseph Vijai, Karen Curtin, Karen H. Costenbader, Kenan Onel, Kenneth Offit, Lauren R. Teras, Lindsay M. Morton, Lucía Conde, Lucia Miligi, Mads Melbye, Maria Grazia Ennas, Mark Liebow, Mark P. Purdue, Martha Glenn, Melissa C. Southey, M. Azhar Ud Din, Nathaniel Rothman, Nicola J. Camp, Nicole Wong Doo, Nikolaus Becker, Nisha Pradhan, Paige M. Bracci, Paolo Boffetta, Paolo Vineis, Paul Brennan, Peter Kraft, Qing Lan, Richard K. Severson, Roel Vermeulen, Roger L. Milne, Rudolph Kaaks, Ruth C. Travis, Stephanie J. Weinstein, Stephen J. Chanock, Stephen M. Ansell, Susan L. Slager, Tongzhang Zheng, Yawei Zhang, Yolanda Benavente, Zachary Taub, Lohith Madireddy, Pierre‐Antoine Gourraud, Jorge R. Oksenberg, Wendy Cozen, Henrik Hjalgrim, Pouya Khankhanian

Bibliographic record

VenueGenetic Epidemiology · 2019
Typearticle
Languageen
FieldMedicine
TopicLymphoma Diagnosis and Treatment
Canadian institutionsUniversity of British ColumbiaMcGill University Health CentreCanada's Michael Smith Genome Sciences CentreSimon Fraser UniversityBC Cancer AgencyUniversity of CalgaryMcGill University
FundersNational Center for Advancing Translational SciencesNational Center for Chronic Disease Prevention and Health PromotionNational Institute of Environmental Health SciencesUtah Department of HealthNational Institute of Neurological Disorders and StrokeNational Institute of Allergy and Infectious DiseasesNational Cancer InstituteNational Human Genome Research InstituteMedical Research CouncilNational Institutes of HealthBlood Cancer UKNational Institute for Health and Care ResearchVlaamse regeringCancerfondenBundesamt für StrahlenschutzLeukemia and Lymphoma ResearchNational Health and Medical Research CouncilNational Center for Research ResourcesInstitut National Du CancerAssociazione Italiana per la Ricerca sul CancroUniversity of UtahFondation de FranceGeneralitat de CatalunyaCanadian Institutes of Health ResearchFonds Wetenschappelijk OnderzoekBundesministerium für Bildung und ForschungAcademy of FinlandInstitut National de la Santé et de la Recherche MédicaleMichael Smith Health Research BCNational Institute on AgingHealth Research BoardWorld Health OrganizationWellcome TrustNational Heart, Lung, and Blood InstituteMultiple Sclerosis AustraliaHelsingin ja Uudenmaan SairaanhoitopiiriMultiple Sclerosis SocietyDeutsche ForschungsgemeinschaftScleroseforeningenNational Natural Science Foundation of ChinaLymphoma FoundationKarolinska InstitutetUtah State UniversityHuntsman Cancer InstituteWellcomeJosé Carreras Leukämie-StiftungEuropean CommissionBiogenU.S. Department of Veterans AffairsFondation pour l'Aide à la Recherche sur la Sclérose en PlaquesU.S. Department of Health and Human Services
KeywordsGenome-wide association studyLymphomaDiseaseFollicular lymphomaGenetic associationEtiologyRheumatoid arthritisOncologyMedicineImmunologyBiologyInternal medicineGeneticsSingle-nucleotide polymorphismGeneGenotype

Abstract

fetched live from OpenAlex

Epidemiologic studies show an increased risk of non-Hodgkin lymphoma (NHL) in patients with autoimmune disease (AD), due to a combination of shared environmental factors and/or genetic factors, or a causative cascade: chronic inflammation/antigen-stimulation in one disease leads to another. Here we assess shared genetic risk in genome-wide-association-studies (GWAS). Secondary analysis of GWAS of NHL subtypes (chronic lymphocytic leukemia, diffuse large B-cell lymphoma, follicular lymphoma, and marginal zone lymphoma) and ADs (rheumatoid arthritis, systemic lupus erythematosus, and multiple sclerosis). Shared genetic risk was assessed by (a) description of regional genetic of overlap, (b) polygenic risk score (PRS), (c)"diseasome", (d)meta-analysis. Descriptive analysis revealed few shared genetic factors between each AD and each NHL subtype. The PRS of ADs were not increased in NHL patients (nor vice versa). In the diseasome, NHLs shared more genetic etiology with ADs than solid cancers (p = .0041). A meta-analysis (combing AD with NHL) implicated genes of apoptosis and telomere length. This GWAS-based analysis four NHL subtypes and three ADs revealed few weakly-associated shared loci, explaining little total risk. This suggests common genetic variation, as assessed by GWAS in these sample sizes, may not be the primary explanation for the link between these ADs and NHLs.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame machine prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.

metaresearch head score (Codex)0.002
metaresearch head score (Gemma)0.004
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.003
Threshold uncertainty score0.008

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0020.004
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0010.001
Bibliometrics0.0010.001
Science and technology studies0.0000.000
Scholarly communication0.0010.000
Open science0.0000.001
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0020.000

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.020
GPT teacher head0.288
Teacher spread0.268 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designObservational
Domainnot available
GenreEmpirical

How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".

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Citations39
Published2019
Admission routes2
Has abstractyes

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