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ID

45658

Description

Principal Investigator: Neil E Caporaso, MD, National Institutes of Health, Bethesda, MD, USA MeSH: Waldenstrom Macroglobulinemia,Lymphoplasmacytoid Lymphoma https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001284 A discovery GWAS is performed, consisting of genotyping 221 Waldenstrom macroglobulinemia (WM) cases on the Illumina Omni Express 12v1.1 platform and analyzing the genotypes together with those of 3798 previously genotyped controls in a model taking into account gender, age, and principal components of ancestry (i.e., significant eigenvectors). Directly genotyped data are supplemented by imputation using the Haplotype Reference Consortium.

Lien

dbGaP study = phs001284

Mots-clés

  1. 23/03/2023 23/03/2023 - Simon Heim
Détendeur de droits

Neil E Caporaso, MD, National Institutes of Health, Bethesda, MD, USA

Téléchargé le

23 mars 2023

DOI

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Licence

Creative Commons BY 4.0

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    dbGaP phs001284 NCI Waldenstrom Macroglobulinemia Genome-wide Association Study

    Eligibility Criteria

    Inclusion and exclusion criteria
    Description

    Inclusion and exclusion criteria

    Alias
    UMLS CUI [1,1]
    C1512693 (Inclusion)
    UMLS CUI [1,2]
    C0680251 (Exclusion Criteria)
    *Inclusion criteria, Cases:* Individuals with a confirmed diagnosis of Waldenstrom Macroglobulinemia or lymphoplasmacytic lymphoma who provide informed consent for DNA collection, genetic studies and data-sharing.
    Description

    *Inclusion criteria, Cases:* Individuals with a confirmed diagnosis of Waldenstrom Macroglobulinemia or lymphoplasmacytic lymphoma who provide informed consent for DNA collection, genetic studies and data-sharing.

    Type de données

    boolean

    Alias
    UMLS CUI [1,1]
    C1512693 (Inclusion)
    UMLS CUI [1,2]
    C1706256 (Clinical Study Case)
    UMLS CUI [1,3]
    C0011900 (Diagnosis)
    SNOMED
    439401001
    LOINC
    LP30831-9
    UMLS CUI [1,4]
    C0750484 (Confirmation)
    LOINC
    LA15290-2
    UMLS CUI [1,5]
    C0024419 (Waldenstrom Macroglobulinemia)
    SNOMED
    190818004
    UMLS CUI [1,6]
    C0334633 (Malignant lymphoma - lymphoplasmacytic)
    SNOMED
    19340000
    UMLS CUI [1,7]
    C0021430 (Informed Consent)
    UMLS CUI [1,8]
    C0012854 (DNA)
    SNOMED
    24851008
    LOINC
    LP32416-7
    UMLS CUI [1,9]
    C0200345 (Specimen Collection)
    SNOMED
    17636008
    UMLS CUI [1,10]
    C2827447 (Genetic studies)
    UMLS CUI [1,11]
    C2713450 (Data Sharing)
    *Inclusion criteria, Controls:* Adults with no history of Waldenstrom macroglobulinemia, lymphoplasmacytic lymphoma, or other B-cell malignancy at enrollment who provide informed consent for DNA collection and genetic studies.
    Description

    *Inclusion criteria, Controls:* Adults with no history of Waldenstrom macroglobulinemia, lymphoplasmacytic lymphoma, or other B-cell malignancy at enrollment who provide informed consent for DNA collection and genetic studies.

    Type de données

    boolean

    Alias
    UMLS CUI [1,1]
    C1512693 (Inclusion)
    UMLS CUI [1,2]
    C0009932 (Control Groups)
    UMLS CUI [1,3]
    C0001675 (Adult)
    SNOMED
    133936004
    LOINC
    LA13524-6
    UMLS CUI [1,4]
    C0332122 (No history of)
    SNOMED
    14732006
    UMLS CUI [1,5]
    C0024419 (Waldenstrom Macroglobulinemia)
    SNOMED
    190818004
    UMLS CUI [1,6]
    C0334633 (Malignant lymphoma - lymphoplasmacytic)
    SNOMED
    19340000
    UMLS CUI [1,7]
    C0079731 (B-Cell Lymphomas)
    SNOMED
    109979007
    UMLS CUI [1,8]
    C0021430 (Informed Consent)
    UMLS CUI [1,9]
    C0012854 (DNA)
    SNOMED
    24851008
    LOINC
    LP32416-7
    UMLS CUI [1,10]
    C0200345 (Specimen Collection)
    SNOMED
    17636008
    UMLS CUI [1,11]
    C2827447 (Genetic studies)
    *Exclusion criteria:* 1) Diagnosis of monoclonal gammopathy of IgM type; 2) diagnosis of primary B-cell disorder other than Waldenstrom macroglobulinemia or lymphoplasmacytic lymphoma; 3) non-European ancestry
    Description

    *Exclusion criteria:* 1) Diagnosis of monoclonal gammopathy of IgM type; 2) diagnosis of primary B-cell disorder other than Waldenstrom macroglobulinemia or lymphoplasmacytic lymphoma; 3) non-European ancestry

    Type de données

    boolean

    Alias
    UMLS CUI [1,1]
    C0680251 (Exclusion Criteria)
    UMLS CUI [1,2]
    C0011900 (Diagnosis)
    SNOMED
    439401001
    LOINC
    LP30831-9
    UMLS CUI [1,3]
    C4288918 (IgM Monoclonal Gammopathy)
    UMLS CUI [1,4]
    C5555430 (undefined)
    UMLS CUI [1,5]
    C4723751 (Other Than)
    UMLS CUI [1,6]
    C0024419 (Waldenstrom Macroglobulinemia)
    SNOMED
    190818004
    UMLS CUI [1,7]
    C0334633 (Malignant lymphoma - lymphoplasmacytic)
    SNOMED
    19340000
    UMLS CUI [1,8]
    C1518422 (Negation)
    LOINC
    LA21291-2
    UMLS CUI [1,9]
    C1257905 (European Continental Ancestry Group)

    Similar models

    Eligibility Criteria

    Name
    Type
    Description | Question | Decode (Coded Value)
    Type de données
    Alias
    Item Group
    Inclusion and exclusion criteria
    C1512693 (UMLS CUI [1,1])
    C0680251 (UMLS CUI [1,2])
    *Inclusion criteria, Cases:* Individuals with a confirmed diagnosis of Waldenstrom Macroglobulinemia or lymphoplasmacytic lymphoma who provide informed consent for DNA collection, genetic studies and data-sharing.
    Item
    *Inclusion criteria, Cases:* Individuals with a confirmed diagnosis of Waldenstrom Macroglobulinemia or lymphoplasmacytic lymphoma who provide informed consent for DNA collection, genetic studies and data-sharing.
    boolean
    C1512693 (UMLS CUI [1,1])
    C1706256 (UMLS CUI [1,2])
    C0011900 (UMLS CUI [1,3])
    C0750484 (UMLS CUI [1,4])
    C0024419 (UMLS CUI [1,5])
    C0334633 (UMLS CUI [1,6])
    C0021430 (UMLS CUI [1,7])
    C0012854 (UMLS CUI [1,8])
    C0200345 (UMLS CUI [1,9])
    C2827447 (UMLS CUI [1,10])
    C2713450 (UMLS CUI [1,11])
    *Inclusion criteria, Controls:* Adults with no history of Waldenstrom macroglobulinemia, lymphoplasmacytic lymphoma, or other B-cell malignancy at enrollment who provide informed consent for DNA collection and genetic studies.
    Item
    *Inclusion criteria, Controls:* Adults with no history of Waldenstrom macroglobulinemia, lymphoplasmacytic lymphoma, or other B-cell malignancy at enrollment who provide informed consent for DNA collection and genetic studies.
    boolean
    C1512693 (UMLS CUI [1,1])
    C0009932 (UMLS CUI [1,2])
    C0001675 (UMLS CUI [1,3])
    C0332122 (UMLS CUI [1,4])
    C0024419 (UMLS CUI [1,5])
    C0334633 (UMLS CUI [1,6])
    C0079731 (UMLS CUI [1,7])
    C0021430 (UMLS CUI [1,8])
    C0012854 (UMLS CUI [1,9])
    C0200345 (UMLS CUI [1,10])
    C2827447 (UMLS CUI [1,11])
    *Exclusion criteria:* 1) Diagnosis of monoclonal gammopathy of IgM type; 2) diagnosis of primary B-cell disorder other than Waldenstrom macroglobulinemia or lymphoplasmacytic lymphoma; 3) non-European ancestry
    Item
    *Exclusion criteria:* 1) Diagnosis of monoclonal gammopathy of IgM type; 2) diagnosis of primary B-cell disorder other than Waldenstrom macroglobulinemia or lymphoplasmacytic lymphoma; 3) non-European ancestry
    boolean
    C0680251 (UMLS CUI [1,1])
    C0011900 (UMLS CUI [1,2])
    C4288918 (UMLS CUI [1,3])
    C5555430 (UMLS CUI [1,4])
    C4723751 (UMLS CUI [1,5])
    C0024419 (UMLS CUI [1,6])
    C0334633 (UMLS CUI [1,7])
    C1518422 (UMLS CUI [1,8])
    C1257905 (UMLS CUI [1,9])

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