ID

45902

Description

Principal Investigator: Rex Chisholm, PhD, Northwestern University MeSH: Diabetes Mellitus, Type 2 https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000984 Type 2 Diabetes Mellitus (T2DM) is a chronic and sometimes debilitating disease that affects millions of adults in the USA. Metformin is commonly prescribed for T2DM; yet some T2DM patients do not tolerate it or respond well. This pharmacogenomics study will examine response, as both change in T2DM patients' weight and hemoglobin A1c (HbA1c) levels, to different doses of metformin, by extracting this data from the electronic health record (EHR), for T2DM subjects taking metformin found by prescription orders in the EHR, and identified as cases with the EHR phenotype algorithm published by Kho et. al. in 2012 (PMID: 22101970 as part of the eMERGE (electronic Medical Records and Genomics; dbGaP phs000237, phs000297, phs000360, phs000368, phs000888, and phs000948) project.

Link

dbGaP study = phs000984

Keywords

  1. 12/13/23 12/13/23 - Simon Heim
Copyright Holder

Rex Chisholm, PhD, Northwestern University

Uploaded on

December 13, 2023

DOI

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License

Creative Commons BY 4.0

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    dbGaP phs000984 Pharmacogenomics of Metformin Dose Response in T2DM Patients

    This subject sample mapping data table includes a mapping of study subject IDs to sample IDs. Samples are the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs. The data table also includes sample aliases and sample use.

    1. StudyEvent: SEV1
      1. Eligibility Criteria
      2. This subject consent data table includes subjects IDs, consent information, mapping to subject aliases, and affection status for subject with type 2 diabetes mellitus (T2DM) taking metformin.
      3. This subject sample mapping data table includes a mapping of study subject IDs to sample IDs. Samples are the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs. The data table also includes sample aliases and sample use.
      4. This subject phenotype data table includes subjects year and decade of birth, gender, race, ethnicity, and case/control status for subject with type 2 diabetes mellitus (T2DM) taking metformin.
      5. This sample attributes data table includes body site where sample was collected, analyte type, tumor status, and histological type.
      6. This data table includes HbA1c measurements, age when the measurements were taken, and the index number which uniquely indentifies lab values within each year.
      7. This data table includes weight measurements, binary flag indicating possible pregnancy around time of weight measure, age when weight was recorded, and the index number which uniquely indentifies lab values within each year.
      8. This pedigree data table includes family ID, subject ID, father and mother ID, and subject gender to link subjects of the same family.
    pht005009
    Description

    pht005009

    Alias
    UMLS CUI [1,1]
    C3846158
    Subject ID
    Description

    SUBJID

    Data type

    string

    Alias
    UMLS CUI [1,1]
    C2348585
    Sample ID
    Description

    SAMPID

    Data type

    string

    Alias
    UMLS CUI [1,1]
    C1299222
    Source repository where samples originate
    Description

    SAMP_SOURCE

    Data type

    string

    Alias
    UMLS CUI [1,1]
    C3847505
    UMLS CUI [1,2]
    C0449416
    UMLS CUI [1,3]
    C2347026
    Sample ID used in the Source Repository
    Description

    SOURCE_SAMPID

    Data type

    string

    Alias
    UMLS CUI [1,1]
    C1299222
    UMLS CUI [1,2]
    C3847505
    UMLS CUI [1,3]
    C0449416
    Sample Use
    Description

    SAMPLE_USE

    Data type

    text

    Alias
    UMLS CUI [1,1]
    C2347026
    UMLS CUI [1,2]
    C1524063

    Similar models

    This subject sample mapping data table includes a mapping of study subject IDs to sample IDs. Samples are the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs. The data table also includes sample aliases and sample use.

    1. StudyEvent: SEV1
      1. Eligibility Criteria
      2. This subject consent data table includes subjects IDs, consent information, mapping to subject aliases, and affection status for subject with type 2 diabetes mellitus (T2DM) taking metformin.
      3. This subject sample mapping data table includes a mapping of study subject IDs to sample IDs. Samples are the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs. The data table also includes sample aliases and sample use.
      4. This subject phenotype data table includes subjects year and decade of birth, gender, race, ethnicity, and case/control status for subject with type 2 diabetes mellitus (T2DM) taking metformin.
      5. This sample attributes data table includes body site where sample was collected, analyte type, tumor status, and histological type.
      6. This data table includes HbA1c measurements, age when the measurements were taken, and the index number which uniquely indentifies lab values within each year.
      7. This data table includes weight measurements, binary flag indicating possible pregnancy around time of weight measure, age when weight was recorded, and the index number which uniquely indentifies lab values within each year.
      8. This pedigree data table includes family ID, subject ID, father and mother ID, and subject gender to link subjects of the same family.
    Name
    Type
    Description | Question | Decode (Coded Value)
    Data type
    Alias
    Item Group
    pht005009
    C3846158 (UMLS CUI [1,1])
    SUBJID
    Item
    Subject ID
    string
    C2348585 (UMLS CUI [1,1])
    SAMPID
    Item
    Sample ID
    string
    C1299222 (UMLS CUI [1,1])
    SAMP_SOURCE
    Item
    Source repository where samples originate
    string
    C3847505 (UMLS CUI [1,1])
    C0449416 (UMLS CUI [1,2])
    C2347026 (UMLS CUI [1,3])
    SOURCE_SAMPID
    Item
    Sample ID used in the Source Repository
    string
    C1299222 (UMLS CUI [1,1])
    C3847505 (UMLS CUI [1,2])
    C0449416 (UMLS CUI [1,3])
    Item
    Sample Use
    text
    C2347026 (UMLS CUI [1,1])
    C1524063 (UMLS CUI [1,2])
    Code List
    Sample Use
    CL Item
    SNP genotypes obtained using standard or custom microarrays (Array_SNP)
    C2347026 (UMLS CUI [1,1])
    C0042153 (UMLS CUI [1,2])
    C0752046 (UMLS CUI [1,3])
    C1449575 (UMLS CUI [1,4])

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