ArticleAmerican journal of human genetics2020
Genome-wide Association Study Identifies HLA-DPB1 as a Significant Risk Factor for Severe Aplastic Anemia.
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Article in American journal of human genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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23citing papers in PubMed
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Who cites it
23 citing papers in PubMed, 32 citations in OpenAlex.
- HLA associations, somatic loss of HLA expression, and clinical outcomes in immune aplastic anemia.Blood · 2021Trial
- The Role of Single-Nucleotide Polymorphisms in Acquired Aplastic Anaemia.Scandinavian journal of immunology · 2026Review
- [Role of HLA genetic variants in autoimmune diseases].Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences · 2026Review
- A PTPRO-Related Five-Gene Blood Transcriptional Signature with Diagnostic Potential for Tuberculosis.Biomedicines · 2026Article
- NGS identifies novel HLA-DQA1 and DPB1 associations with aplastic anemia in the Kazakhstani population.Frontiers in immunology · 2026Article
- Whole Exome Sequencing of Adult Indians with Apparently Acquired Aplastic Anaemia: Initial Experience at Tertiary Care Hospital.Diseases (Basel, Switzerland) · 2024Article
- Telomere length and clonal chromosomal alterations in peripheral blood of patients with severe aplastic anaemia.British journal of haematology · 2024Article
- Modified Delphi panel consensus recommendations for management of severe aplastic anemia.Blood advances · 2024Article
- Associations between HLA class II alleles and IgE sensitization to allergens in the Qatar Biobank cohort.The journal of allergy and clinical immunology. Global · 2023Article
- Leukemia relapse via genetic immune escape after allogeneic hematopoietic cell transplantation.Nature communications · 2023Article
- Leukemia relapse via genetic immune escape after allogeneic hematopoietic cell transplantation.Research square · 2023Article
- Molecular Understanding of ACE-2 and HLA-Conferred Differential Susceptibility to COVID-19: Host-Directed Insights Opening New Windows in COVID-19 Therapeutics.Journal of clinical medicine · 2023Review
- Association between human leukocyte antigen and immunosuppressive treatment outcomes in Chinese patients with aplastic anemia.Frontiers in immunology · 2023Article
- Anti-Thymocyte Globulin (ATG)-Free Nonmyeloablative Haploidentical PBSCT Plus Post-Transplantation Cyclophosphamide Is a Safe and Efficient Treatment Approach for Pediatric Acquired Aplastic Anemia.International journal of molecular sciences · 2022Article
- Germline-somatic JAK2 interactions are associated with clonal expansion in myelofibrosis.Nature communications · 2022Article
- Genetic testing in severe aplastic anemia is required for optimal hematopoietic cell transplant outcomes.Blood · 2022Article
- Human Leukocyte Antigen Association Study Reveals DRB1*04:02 Effects Additional to DRB1*07:01 in Anti-LGI1 Encephalitis.Neurology(R) neuroimmunology & neuroinflammation · 2022Article
- miR‑30a‑5p induces the adipogenic differentiation of bone marrow mesenchymal stem cells by targeting FAM13A/Wnt/β‑catenin signaling in aplastic anemia.Molecular medicine reports · 2022Article
- Article
- [Study on the loss of HLA-A allele expression in patients with aplastic anemia].Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi · 2021Article
Corrections and comments
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Authors and funding
32 authors at 13 institutions in 3 countries.
Sharon A SavageDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892, USA. Electronic address: savagesh@mail.nih.gov.
Mathias ViardBasic Science Program, Frederick National Laboratory for Cancer Research, Frederick, MD 21702, USA.
Colm O'hUiginBasic Science Program, Frederick National Laboratory for Cancer Research, Frederick, MD 21702, USA; Leidos Biomedical Research, Inc., Frederick National Laboratory for Cancer Research, Frederick, MD 21702, USA.
Weiyin ZhouLeidos Biomedical Research, Inc., Frederick National Laboratory for Cancer Research, Frederick, MD 21702, USA; Cancer Genomics Research Laboratory, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892, USA.
Meredith YeagerLeidos Biomedical Research, Inc., Frederick National Laboratory for Cancer Research, Frederick, MD 21702, USA; Cancer Genomics Research Laboratory, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892, USA.
Shengchao Alfred LiLeidos Biomedical Research, Inc., Frederick National Laboratory for Cancer Research, Frederick, MD 21702, USA; Cancer Genomics Research Laboratory, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892, USA.
Tao WangCenter for International Blood and Marrow Transplant Research, Medical College of Wisconsin, Milwaukee, WI 53226, USA; Division of Biostatistics, Medical College of Wisconsin, Milwaukee, WI 53226, USA.
Veron RamsuranKwaZulu-Natal Research Innovation and Sequencing Platform (KRISP), School of Laboratory Medicine and Medical Sciences, University of KwaZulu-Natal, Durban, South Africa.
Nicolas VinceUniversité de Nantes, CHU Nantes, Inserm, Centre de Recherche en Transplantation et Immunologie, UMR 1064, ITUN, F-44000 Nantes, France.
Aurelie VogtLeidos Biomedical Research, Inc., Frederick National Laboratory for Cancer Research, Frederick, MD 21702, USA; Cancer Genomics Research Laboratory, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892, USA.
Belynda HicksBasic Science Program, Frederick National Laboratory for Cancer Research, Frederick, MD 21702, USA; Cancer Genomics Research Laboratory, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892, USA.
Laurie BurdettLeidos Biomedical Research, Inc., Frederick National Laboratory for Cancer Research, Frederick, MD 21702, USA; Cancer Genomics Research Laboratory, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892, USA.
Charles ChungBasic Science Program, Frederick National Laboratory for Cancer Research, Frederick, MD 21702, USA; Cancer Genomics Research Laboratory, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892, USA.
Michael DeanDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892, USA.
Kelvin C de AndradeDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892, USA.
Neal D FreedmanDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892, USA.
Sonja I BerndtDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892, USA.
Nathaniel RothmanDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892, USA.
Qing LanDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892, USA.
James R CerhanDepartment of Health Sciences Research, Mayo Clinic, Rochester, MN 55902, USA.
Susan L SlagerDepartment of Health Sciences Research, Mayo Clinic, Rochester, MN 55902, USA.
Yawei ZhangSection of Surgical Outcomes and Epidemiology, Department of Surgery, Yale Medical School, New Haven, CT 06520, USA.
Lauren R TerasBehavioral and Epidemiology Research Group, American Cancer Society, Atlanta, GA, 30303, USA.
Michael HaagensonDivision of Biostatistics, Medical College of Wisconsin, Milwaukee, WI 53226, USA.
Stephen J ChanockDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892, USA.
Stephen R SpellmanCenter for International Blood and Marrow Transplant Research, Medical College of Wisconsin, Milwaukee, WI 53226, USA; Division of Biostatistics, Medical College of Wisconsin, Milwaukee, WI 53226, USA.
Youjin WangDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892, USA.
Amanda WillisDepartment of Pathology and Laboratory Medicine, Baylor University Medical Center, Dallas, TX 76798, USA.
Medhat AskarDepartment of Pathology and Laboratory Medicine, Baylor University Medical Center, Dallas, TX 76798, USA.
Stephanie J LeeCenter for International Blood and Marrow Transplant Research, Medical College of Wisconsin, Milwaukee, WI 53226, USA; Clinical Research Division, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA.
Mary CarringtonBasic Science Program, Frederick National Laboratory for Cancer Research, Frederick, MD 21702, USA; Ragon Institute of Massachusetts General Hospital, Massachusetts Institute of Technology, and Harvard University, Cambridge, MA 02139, USA.
Shahinaz M GadallaDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892, USA.
Division of Cancer Epidemiology and GeneticsFrederick National Laboratory for Cancer Research · USNational Cancer Institute · USMedical College of Wisconsin · USBaylor University Medical Center · USMayo Clinic in Florida · USAmerican Cancer Society · USFred Hutch Cancer Center · USInserm · FRLeidos (United States) · USRagon Institute of MGH, MIT and Harvard · USUniversity of KwaZulu-Natal · ZAYale University · US
Funding
Data Resource for Analyzing Blood &Marrow TransplantsU24CA076518 · NCI · MEDICAL COLLEGE OF WISCONSIN · PI Amy M Moskop, Bronwen Shaw · 1998 to 2026
$105.2MYale Clinical and Translational Science Award (U Component)UL1TR001863 · NCATS · YALE UNIVERSITY · PI John H. Krystal, LUCILA OHNO-MACHADO · 2016 to 2026
$102.9MThe Role of Monocytes in non-Hodgkin LymphomaP50CA097274 · NCI · UNIVERSITY OF IOWA · PI LENTZ, STEVEN R · 2002 to 2021
$45.7MEasy-to-read Informed Consent for HCT Clinical TrialsU10HL069294 · NHLBI · MEDICAL COLLEGE OF WISCONSIN · PI HOROWITZ, MARY MARESCA · 2011 to 2016
$43.8MLICI Microbiome and Genetics CoreZICBC011237 · NCI · DIVISION OF BASIC SCIENCES - NCI · PI OHUIGIN, COLM · 2009 to 2025
$28.3MEffects of genetic polymorphism in MHC, KIR, and related loci on human diseaseZIABC010791 · NCI · DIVISION OF BASIC SCIENCES - NCI · PI CARRINGTON, MARY N. · 2009 to 2025
$18.2MGenetic Modifiers of Cancer RiskZIACP010142 · NCI · DIVISION OF CANCER EPIDEMIOLOGY AND GENETICS · PI MIRABELLO, LISA · 2009 to 2025
$17.1MMolecular Epidemiology of NHL and CLLR01CA092153 · NCI · MAYO CLINIC ROCHESTER · PI CERHAN, JAMES R · 2003 to 2012
$6.7MSURVEILLANCE, EPIDEMIOLOGY, AND END RESULTS--SEERN01PC065064 · PC · WAYNE STATE UNIVERSITY · PI SCHWARTZ, ANN G · 1996 to 2000
$4.5MSURVEILLANCE EPIDEMIOLOGY &END RESULTS PROGRAMN01PC067008 · PC · UNIVERSITY OF IOWA · PI LYNCH, CHARLES · 1996 to 2000
$3.8MSURVEILLANCE EPIDEMIOLOGY &END RESULTS PROGRAMN01PC067009 · PC · FRED HUTCHINSON CANCER RESEARCH CENTER · PI THOMAS, DAVID B · 1996 to 2000
$3.0MSURVEILLANCE EPIDEMIOLOGY &END RESULTS PROGRAMN01PC067010 · PC · UNIVERSITY OF SOUTHERN CALIFORNIA · PI ROSS, RONALD K · 1996 to 2000
$2.4MCCR NIH HHS HHSN261200800001CNCATS NIH HHS UL1 TR001863NCI NIH HHS HHSN261200800001ENCI NIH HHS N01 PC065064NCI NIH HHS N01 PC067008NCI NIH HHS N01 PC067009NCI NIH HHS N01 PC067010NCI NIH HHS P50 CA097274NCI NIH HHS R01 CA062006NCI NIH HHS R01 CA092153NCI NIH HHS R21 CA165923NCI NIH HHS U24 CA076518NHLBI NIH HHS U10 HL069294
Abstract
Severe aplastic anemia (SAA) is a rare disorder characterized by hypoplastic bone marrow and progressive pancytopenia. The etiology of acquired SAA is not understood but is likely related to abnormal immune responses and environmental exposures. We conducted a genome-wide association study of individuals with SAA genetically matched to healthy controls in discovery (359 cases, 1,396 controls) and validation sets (175 cases, 1,059 controls). Combined analyses identified linked SNPs in distinct blocks within the major histocompatibility complex on 6p21. The top SNP encodes p.Met76Val in the P4 binding pocket of the HLA class II gene HLA-DPB1 (rs1042151A>G, odds ratio [OR] 1.75, 95% confidence interval [CI] 1.50-2.03, p = 1.94 × 10
Indexed as
Genetic MarkersGenetic Predisposition to DiseasePolymorphism, Single NucleotideAdolescentAdultAgedAnemia, AplasticCase-Control StudiesChildChild, PreschoolFemaleGenome-Wide Association StudyGenotypeHLA-DP beta-ChainsHumansInfantGenetic MarkersHLA-DPB1 antigenHLA-DP beta-Chainsaplastic anemiabone marrow failureetiologygenome-wide association studyGWAShematpoietic cell transplantationHLAHLA-DP
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