0 Ratings

ID

45904

Description

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

Keywords

  1. 12/14/23 12/14/23 - Simon Heim
Copyright Holder

dbGaP

Uploaded on

December 14, 2023

DOI

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License

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
    Description

    pht004289

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

    FAMILY_ID

    Data type

    text

    Alias
    UMLS CUI [1,1]
    C3669174
    Unique Subject ID
    Description

    High_QC_SubjectID

    Data type

    text

    Alias
    UMLS CUI [1,1]
    C2348585
    Mother's Subject ID
    Description

    Mother_ID

    Data type

    text

    Alias
    UMLS CUI [1,1]
    C3669352
    UMLS CUI [1,2]
    C0030761
    Father's Subject ID
    Description

    Father_ID

    Data type

    text

    Alias
    UMLS CUI [1,1]
    C3669177
    UMLS CUI [1,2]
    C0030761
    Sex
    Description

    Sex

    Data type

    text

    Alias
    UMLS CUI [1,1]
    C0079399

    Similar models

    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
    Type
    Description | Question | Decode (Coded Value)
    Data type
    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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