0 Evaluaciones

ID

45904

Descripción

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

Palabras clave

  1. 14/12/23 14/12/23 - Simon Heim
Titular de derechos de autor

dbGaP

Subido en

14 de diciembre de 2023

DOI

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Licencia

Creative Commons BY 4.0

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

    Eligibility Criteria

    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.
    Inclusion and exclusion criteria
    Descripción

    Inclusion and exclusion criteria

    Alias
    UMLS CUI [1,1]
    C1512693 (Inclusion)
    UMLS CUI [1,2]
    C0680251 (Exclusion Criteria)
    Exclusion: At least one grandparent not born in Republic of Ireland or Northern Ireland. Exclusion: Any major medical health problem. Inclusion: Ages 18-28.
    Descripción

    Exclusion: At least one grandparent not born in Republic of Ireland or Northern Ireland. Exclusion: Any major medical health problem. Inclusion: Ages 18-28.

    Tipo de datos

    boolean

    Alias
    UMLS CUI [1,1]
    C0680251 (Exclusion Criteria)
    UMLS CUI [1,2]
    C1265611 (Quantity)
    SNOMED
    246205007
    LOINC
    LP202968-6
    UMLS CUI [1,3]
    C0337471 (grandparent)
    SNOMED
    38312007
    UMLS CUI [1,4]
    C1518422 (Negation)
    LOINC
    LA21291-2
    UMLS CUI [1,5]
    C1277379 (Born in Republic of Ireland)
    SNOMED
    315507004
    UMLS CUI [1,6]
    C1277375 (Born in Northern Ireland)
    SNOMED
    315493007
    UMLS CUI [2,1]
    C1446390 (Physical health problems)
    SNOMED
    413320001
    UMLS CUI [2,2]
    C0205164 (Major)
    SNOMED
    255603008
    LOINC
    LA29634-5
    UMLS CUI [3,1]
    C1512693 (Inclusion)
    UMLS CUI [3,2]
    C0001779 (Age)
    SNOMED
    424144002
    LOINC
    LP28815-6

    Similar models

    Eligibility Criteria

    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
    Tipo
    Description | Question | Decode (Coded Value)
    Tipo de datos
    Alias
    Item Group
    Inclusion and exclusion criteria
    C1512693 (UMLS CUI [1,1])
    C0680251 (UMLS CUI [1,2])
    Exclusion: At least one grandparent not born in Republic of Ireland or Northern Ireland. Exclusion: Any major medical health problem. Inclusion: Ages 18-28.
    Item
    Exclusion: At least one grandparent not born in Republic of Ireland or Northern Ireland. Exclusion: Any major medical health problem. Inclusion: Ages 18-28.
    boolean
    C0680251 (UMLS CUI [1,1])
    C1265611 (UMLS CUI [1,2])
    C0337471 (UMLS CUI [1,3])
    C1518422 (UMLS CUI [1,4])
    C1277379 (UMLS CUI [1,5])
    C1277375 (UMLS CUI [1,6])
    C1446390 (UMLS CUI [2,1])
    C0205164 (UMLS CUI [2,2])
    C1512693 (UMLS CUI [3,1])
    C0001779 (UMLS CUI [3,2])

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