ID

45904

Descrição

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

Palavras-chave

  1. 14/12/2023 14/12/2023 - Simon Heim
Titular dos direitos

dbGaP

Transferido a

14 de dezembro de 2023

DOI

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Licença

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
Descrição

pht004289

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

FAMILY_ID

Tipo de dados

text

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

High_QC_SubjectID

Tipo de dados

text

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

Mother_ID

Tipo de dados

text

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

Father_ID

Tipo de dados

text

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

Sex

Tipo de dados

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
Tipo
Description | Question | Decode (Coded Value)
Tipo de dados
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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