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dbGaP phs001122 Genome-wide Identification of Variants Affecting Early Human Brain Development - pht008640.v1.p1

- 29/01/2025 - 6 Formulieren, 1 Itemgroep, 13 Data-elementen, 1 Taal

Itemgroep: pht008640

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.

pht008641.v1.p1

1 Itemgroep 14 Data-elementen

Eligibility

1 Itemgroep 2 Data-elementen

pht008637.v1.p1

1 Itemgroep 4 Data-elementen

pht008638.v1.p1

1 Itemgroep 7 Data-elementen

pht008639.v1.p1

1 Itemgroep 2 Data-elementen

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