0 Beoordelingen

ID

45904

Beschrijving

Principal Investigator: MeSH: Body Height,Body Weight,Age Distribution,Sex,Birth place,Race,Cotinine,Creatinine,Leukocyte count,Erythrocyte Count,Hemoglobins,hematocrit,Mean corpuscular volume,Mean corpuscular hemoglobin,Mean Corpuscular Hemoglobin Concentration,Platelet count,Aspartate aminotransferase,Alanine Transaminase,Gamma-glutamyltransferase,Bilirubin,Urea,Uric Acid,Ferritins,Vitamin B 12,Holo transcobalamin II,Transcobalamin II,Homocysteine,Methylmalonic acid,Cysteine,Methionine,Serine,Glycine,Cystathionine,Sarcosine,Arginine,Tryptophan,Kynurenine,3-Hydroxykynurenine,Kynurenic acid,Xanthurenic acid,Anthranilic acids,3-Hydroxyanthranilic acid,Neopterin,Choline,Betaine,Dimethylglycine,Pyridoxal phosphate,Pyridoxal,Pyridoxic acid,Riboflavin,Flavin mononucleotide,Flavin-Adenine Dinucleotide https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000789 While many genetic and metabolic studies focus on understanding disease states, this genome wide association study (GWAS) was designed to understand the influence of genetic variants on circulating metabolites and factors in normal, healthy individuals. Over 2500 healthy, ethnically Irish college students attending Trinity College Dublin completed a health and diet questionnaire and provided a non-fasting blood sample to be used for genetic and metabolic analysis. The questionnaire was designed to collect information on age, sex, height, weight, medical conditions, smoking, dietary habits, and consumption of alcohol, fortified foods, and supplements. Extracted DNA was genotyped using the Illumina HumanOmni1-Quad Beadchip. Metabolites were measured using a number of methods and focused on those relevant to the folate/vitamin B12 pathway.

Link

dbGaP study=phs000789

Trefwoorden

  1. 14-12-23 14-12-23 - Simon Heim
Houder van rechten

dbGaP

Geüploaded op

14 december 2023

DOI

Voor een aanvraag inloggen.

Licentie

Creative Commons BY 4.0

Model Commentaren :

Hier kunt u commentaar leveren op het model. U kunt de tekstballonnen bij de itemgroepen en items gebruiken om er specifiek commentaar op te geven.

Itemgroep Commentaren voor :

Item Commentaren voor :


    Geen commentaren

    U moet ingelogd zijn om formulieren te downloaden. AUB inloggen of schrijf u gratis in.

    dbGaP phs000789 Collaborative Study of Genes, Nutrients and Metabolites (CSGNM)

    This data table contains 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 data table contains subject IDs, consent group information, subject aliases, and affection status.
      3. The data table contains subject ID, father and mother IDs, family IDs, and gender.
      4. This data table contains 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.
      5. This subject phenotype data table contains sociodemography (n=4 variables; age, sex, birthplace, and race), physical observations (n=2 variables; height and weight), hematologic measurements (n=8 variables; leukocyte, erythrocyte, and platelet counts, mean corpuscular volume, hemoglobin, and hemoglobin concentrations) and measurements of nutrients and metabolites (n=40 variables; aspartate aminotransferase, alanine aminotransferase, gamma-glutamyltransferase, total bilirubin, urea, uric acid, serum ferritin, serum folate, red cell folate, serum vitamin B12 (cobalamin), holotranscobalamin, transcobalamin II, total homocysteine, methylmalonic acid, total cysteine, methionine, serine, glycine, cystathionine, sarcosine, arginine, tryptophan, kynurenine, 3-hydroxykynurenine, kynurenic acid, xanthurenic acid, anthranilic acid, 3-hydroxyanthranilic acid, neopterin, free choline, betaine, dimethylglycine, pyridoxal phosphate, pyridoxal, pyridoxic acid, riboflavin, flavin mononucleotide, flavin adenine dinucleotide, plasma ascorbic acid, whole blood ascorbic acid).
      6. This sample attributes data table includes body site where sample was collected, analyte type, and genotyping center.
    pht004290
    Beschrijving

    pht004290

    Alias
    UMLS CUI [1,1]
    C3846158 (Other Coding)
    LOINC
    LA4728-7
    Subject ID
    Beschrijving

    High_QC_SubjectID

    Datatype

    string

    Alias
    UMLS CUI [1,1]
    C2348585 (Clinical Trial Subject Unique Identifier)
    Sample ID
    Beschrijving

    High_QC_SampleID

    Datatype

    string

    Alias
    UMLS CUI [1,1]
    C1299222 (Sample identification number)
    SNOMED
    372274003
    Source repository where samples originate
    Beschrijving

    SAMPLE_SOURCE

    Datatype

    string

    Alias
    UMLS CUI [1,1]
    C3847505 (Repository)
    LOINC
    LP182360-0
    UMLS CUI [1,2]
    C0449416 (Source)
    SNOMED
    260753009
    LOINC
    LP21212-3
    UMLS CUI [1,3]
    C2347026 (Biospecimen)
    Sample ID used in the Source Repository
    Beschrijving

    SOURCE_SAMPLE_ID

    Datatype

    string

    Alias
    UMLS CUI [1,1]
    C1299222 (Sample identification number)
    SNOMED
    372274003
    UMLS CUI [1,2]
    C3847505 (Repository)
    LOINC
    LP182360-0
    UMLS CUI [1,3]
    C0449416 (Source)
    SNOMED
    260753009
    LOINC
    LP21212-3
    Sample Use
    Beschrijving

    SAMPLE_USE

    Datatype

    text

    Alias
    UMLS CUI [1,1]
    C2347026 (Biospecimen)
    UMLS CUI [1,2]
    C1524063 (Use of)
    SNOMED
    260676000

    Similar models

    This data table contains 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 data table contains subject IDs, consent group information, subject aliases, and affection status.
      3. The data table contains subject ID, father and mother IDs, family IDs, and gender.
      4. This data table contains 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.
      5. This subject phenotype data table contains sociodemography (n=4 variables; age, sex, birthplace, and race), physical observations (n=2 variables; height and weight), hematologic measurements (n=8 variables; leukocyte, erythrocyte, and platelet counts, mean corpuscular volume, hemoglobin, and hemoglobin concentrations) and measurements of nutrients and metabolites (n=40 variables; aspartate aminotransferase, alanine aminotransferase, gamma-glutamyltransferase, total bilirubin, urea, uric acid, serum ferritin, serum folate, red cell folate, serum vitamin B12 (cobalamin), holotranscobalamin, transcobalamin II, total homocysteine, methylmalonic acid, total cysteine, methionine, serine, glycine, cystathionine, sarcosine, arginine, tryptophan, kynurenine, 3-hydroxykynurenine, kynurenic acid, xanthurenic acid, anthranilic acid, 3-hydroxyanthranilic acid, neopterin, free choline, betaine, dimethylglycine, pyridoxal phosphate, pyridoxal, pyridoxic acid, riboflavin, flavin mononucleotide, flavin adenine dinucleotide, plasma ascorbic acid, whole blood ascorbic acid).
      6. This sample attributes data table includes body site where sample was collected, analyte type, and genotyping center.
    Name
    Type
    Description | Question | Decode (Coded Value)
    Datatype
    Alias
    Item Group
    pht004290
    C3846158 (UMLS CUI [1,1])
    High_QC_SubjectID
    Item
    Subject ID
    string
    C2348585 (UMLS CUI [1,1])
    High_QC_SampleID
    Item
    Sample ID
    string
    C1299222 (UMLS CUI [1,1])
    SAMPLE_SOURCE
    Item
    Source repository where samples originate
    string
    C3847505 (UMLS CUI [1,1])
    C0449416 (UMLS CUI [1,2])
    C2347026 (UMLS CUI [1,3])
    SOURCE_SAMPLE_ID
    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])

    Do you need help on how to use the search function? Please watch the corresponding tutorial video for more details and learn how to use the search function most efficiently.

    Watch Tutorial