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ID

45904

Beschreibung

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

Stichworte

  1. 14/12/2023 14/12/2023 - Simon Heim
Rechteinhaber

dbGaP

Hochgeladen am

14 décembre 2023

DOI

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Lizenz

Creative Commons BY 4.0

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

    The data table contains subject ID, father and mother IDs, family IDs, and gender.

    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.
    pht004289
    Beschreibung

    pht004289

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

    FAMILY_ID

    Datentyp

    text

    Alias
    UMLS CUI [1,1]
    C3669174 (Family pedigree identifier)
    LOINC
    LP173549-9
    Unique Subject ID
    Beschreibung

    High_QC_SubjectID

    Datentyp

    text

    Alias
    UMLS CUI [1,1]
    C2348585 (Clinical Trial Subject Unique Identifier)
    Mother's Subject ID
    Beschreibung

    Mother_ID

    Datentyp

    text

    Alias
    UMLS CUI [1,1]
    C3669352 (Mother identifier)
    LOINC
    MTHU047347
    UMLS CUI [1,2]
    C0030761 (genetic pedigree)
    Father's Subject ID
    Beschreibung

    Father_ID

    Datentyp

    text

    Alias
    UMLS CUI [1,1]
    C3669177 (Father identifier)
    LOINC
    MTHU047348
    UMLS CUI [1,2]
    C0030761 (genetic pedigree)
    Sex
    Beschreibung

    Sex

    Datentyp

    text

    Alias
    UMLS CUI [1,1]
    C0079399 (Gender)
    SNOMED
    263495000
    LOINC
    LP61312-2

    Ähnliche Modelle

    The data table contains subject ID, father and mother IDs, family IDs, and gender.

    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
    Typ
    Description | Question | Decode (Coded Value)
    Datentyp
    Alias
    Item Group
    pht004289
    C3846158 (UMLS CUI [1,1])
    FAMILY_ID
    Item
    Family ID
    text
    C3669174 (UMLS CUI [1,1])
    High_QC_SubjectID
    Item
    Unique Subject ID
    text
    C2348585 (UMLS CUI [1,1])
    Mother_ID
    Item
    Mother's Subject ID
    text
    C3669352 (UMLS CUI [1,1])
    C0030761 (UMLS CUI [1,2])
    Father_ID
    Item
    Father's Subject ID
    text
    C3669177 (UMLS CUI [1,1])
    C0030761 (UMLS CUI [1,2])
    Item
    Sex
    text
    C0079399 (UMLS CUI [1,1])
    Code List
    Sex
    CL Item
    Male (1)
    C0086582 (UMLS CUI [1,1])
    CL Item
    Female (2)
    C0086287 (UMLS CUI [1,1])

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