ID
46148
Beschreibung
Principal Investigator: Rebecca C. Knickmeyer, PhD, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA MeSH: Brain,Magnetic Resonance Imaging,White Matter,Gray Matter,Cerebrospinal Fluid https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001122 This is a genome-wide association study (GWAS) of global brain tissue volumes in human infants. The published study for this project includes 561 infants, and 239 parents gave consent for data sharing through dbGaP. An intronic single-nucleotide polymorphism (SNP) in IGFBP7 (rs114518130; GeneID: 3490) met genome-wide significance for gray matter volume (P=4.15x10sup-10/sup). An intronic SNP in WWOX (rs10514437; GeneID: 51741) neared genome-wide significance for white matter volume (P=1.56x10sup-8/sup). Additional loci with small P-values include psychiatric GWAS associations and transcription factors expressed in the developing brain. Genetic risk scores for schizophrenia and ASD, and the number of genes affected by rare copy number variants (CNV burden) did not predict global brain tissue volumes. Integrating these results with large-scale GWAS in adolescents [Philadelphia Neurodevelopmental Cohort (PNC)] and adults [Enhancing Neuro Imaging Genetics through Meta-Analysis version 2 (ENIGMA2)] suggested minimal overlap between common variants impacting brain volumes at different ages.
Link
https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001122
Stichworte
Versionen (2)
- 06.09.23 06.09.23 - Arman Ghanaat
- 29.01.25 29.01.25 - Akane Nishihara
Rechteinhaber
Rebecca C. Knickmeyer, PhD, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA
Hochgeladen am
29. Januar 2025
DOI
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Lizenz
Creative Commons BY 4.0
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dbGaP phs001122 Genome-wide Identification of Variants Affecting Early Human Brain Development
Eligibility Criteria
- StudyEvent: dbGaP phs001122 Genome-wide Identification of Variants Affecting Early Human Brain Development
- Eligibility Criteria
- The subject consent file includes subject ID, consent information, sex, and subject source.
- The subject pedigree table contains family ID, subject ID, mother ID, father ID, sex, twin ID, and relatedness status.
- This data table contains a 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.
- This subject phenotype table contains subject ID, birth weight, gestational age at birth, scanner trio, gender, age at MRI, genotypic principal components 1-3, white and grey matters, intracranial volume, and total cerebrospinal fluid.
- This sample attribute table contains sample ID, SNP call rate, plate number, group, container ID, micronic position, tube ID, trinean concentration, dish QC value, body site, array type, analyte type, tumor status, and name of the center which conducted genotyping.
Ähnliche Modelle
Eligibility Criteria
- StudyEvent: dbGaP phs001122 Genome-wide Identification of Variants Affecting Early Human Brain Development
- Eligibility Criteria
- The subject consent file includes subject ID, consent information, sex, and subject source.
- The subject pedigree table contains family ID, subject ID, mother ID, father ID, sex, twin ID, and relatedness status.
- This data table contains a 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.
- This subject phenotype table contains subject ID, birth weight, gestational age at birth, scanner trio, gender, age at MRI, genotypic principal components 1-3, white and grey matters, intracranial volume, and total cerebrospinal fluid.
- This sample attribute table contains sample ID, SNP call rate, plate number, group, container ID, micronic position, tube ID, trinean concentration, dish QC value, body site, array type, analyte type, tumor status, and name of the center which conducted genotyping.
C0680251 (UMLS CUI [1,2])
C4076643 (UMLS CUI [1,2])
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C0026591 (UMLS CUI [2,2])
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C1322960 (UMLS CUI [1,2])
C0332306 (UMLS CUI [1,3])
C0205251 (UMLS CUI [1,4])
C0680251 (UMLS CUI [2,1])
C0314603 (UMLS CUI [2,2])
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C0205251 (UMLS CUI [2,4])
C0680251 (UMLS CUI [3,1])
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C4055646 (UMLS CUI [8,2])
C0314603 (UMLS CUI [8,3])
C2348205 (UMLS CUI [8,4])
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