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

- 29/01/25 - 6 moduli, 1 ItemGroup, 13 elementi, 1 linguaggio
ItemGroup: 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 ItemGroup 14 elementi

Eligibility

1 ItemGroup 2 elementi

pht008637.v1.p1

1 ItemGroup 4 elementi

pht008638.v1.p1

1 ItemGroup 7 elementi

pht008639.v1.p1

1 ItemGroup 2 elementi

dbGaP phs001226 Regulatory Genomics of Human Embryonic Development - pht006168.v1.p1

- 29/04/23 - 3 moduli, 1 ItemGroup, 2 elementi, 1 linguaggio
ItemGroup: pht006168
Principal Investigator: James P. Noonan, Ph.D, Yale School of Medicine, New Haven, CT, USA MeSH: Embryonic Development,Human Development,Brain,Extremities https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001226 We used epigenetic profiling to map active enhancers in the developing human limb and cortex as described in two published studies:- Cotney J, Leng J, Yin J, Reilly SK et al. The evolution of lineage-specific regulatory activities in the human embryonic limb. Cell 2013;154(1):185-96. - Reilly SK, Yin J, Ayoub AE, Emera D et al. Evolutionary changes in promoter and enhancer activity during human corticogenesis. Science 2015;347(6226):1155-9. We also used ChIP-seq to map binding sites for the chromatin modifier *CHD8* in the developing human brain, as described in one published study:- Cotney J, Muhle RA, Sanders SJ, Liu L et al. The autism-associated chromatin modifier *CHD8* regulates other autism risk genes during human neurodevelopment. Nat Commun 2015;6:6404. We are also depositing primary human sequence reads related to processed datasets in the Gene Expression Omnibus under the following accession numbers: GSE42413 (Cotney et al. 2013); GSE63649 (Reilly et al. 2015); GSE57369 (Cotney et al. 2015).

pht006169.v1.p1

1 ItemGroup 3 elementi

pht006170.v1.p1

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