ID

45202

Descrição

Principal Investigator: Joel E. Kleinman, MD, PhD, National Institutes of Health, Bethesda, MD, USA MeSH: Growth and Development,Aging https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000417 This study explores the temporal dynamics and genetic control of transcription and DNA methylation in the human dorsolateral prefrontal cortex in postmortem tissue. This study examines 269 subjects for gene expression (version 1) and 108 subjects for DNA methylation (version 2). The subjects are normal controls without neuropathological and neuropsychiatric diagnosis and range in age from fetal weeks 14-20 through old age (80). We discover fast changes in gene expression occurring during early brain development. Later in life, the changes are considerably slower. Many genes reverse pattern of expression between fetal and early postnatal development. We identify thousands of strong associations of SNPs with gene expression. We examine DNA methylation in ~14,500 genes at ~27,000 CpG loci focused on 5' promoter regions. The fastest changes in DNA methylation also occur during the prenatal period, slow down markedly after birth and continue to slow further with aging. DNA methylation is strongly associated with genotypic variants and correlates with expression of a subset of genes. DNA for genotyping was obtained from the cerebella and applied to either Illumina 650K or 1 million BeadArrays - only genotypes common to both platforms are analyzed here. Genotypes were called using BeadExpress software. Doi: 10.1038/nature10524 Nature, 478:519-524, 2011; doi:10.1016/j.ajhg.2011.12.020, AJHG 90, 1-13, Feb 10, 2012. The methylation data can be downloaded at: BrainCloud.

Link

dbGaP study = phs000417

Palavras-chave

  1. 17/08/2022 17/08/2022 - Chiara Middel
  2. 12/10/2022 12/10/2022 - Adrian Schulz
Titular dos direitos

Joel E. Kleinman, MD, PhD, National Institutes of Health, Bethesda, MD, USA

Transferido a

12 de outubro de 2022

DOI

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Licença

Creative Commons BY 4.0

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dbGaP phs000417 BrainCloud: Data from Human Postmortem Brain Across the Lifespan

Subject - Consent Information

pht002396
Descrição

pht002396

Subject ID
Descrição

SUBJID

Tipo de dados

string

Alias
UMLS CUI [1,1]
C2348585
Consent group as determined by DAC
Descrição

CONSENT

Tipo de dados

text

Alias
UMLS CUI [1,1]
C0021430
Source repository where subjects originate
Descrição

SUBJ_SOURCE

Tipo de dados

string

Alias
UMLS CUI [1,1]
C0449416
UMLS CUI [1,2]
C3847505
Subject ID used at the source repository
Descrição

SOURCE_SUBJID

Tipo de dados

string

Alias
UMLS CUI [1,1]
C2348585
UMLS CUI [1,2]
C0449416
UMLS CUI [1,3]
C3847505
Case control status of the subject
Descrição

AFFECTION_STATUS

Tipo de dados

text

Alias
UMLS CUI [1,1]
C3274646

Similar models

Subject - Consent Information

Name
Tipo
Description | Question | Decode (Coded Value)
Tipo de dados
Alias
Item Group
pht002396
SUBJID
Item
Subject ID
string
C2348585 (UMLS CUI [1,1])
Item
Consent group as determined by DAC
text
C0021430 (UMLS CUI [1,1])
Code List
Consent group as determined by DAC
CL Item
No data use limitations. (1)
SUBJ_SOURCE
Item
Source repository where subjects originate
string
C0449416 (UMLS CUI [1,1])
C3847505 (UMLS CUI [1,2])
SOURCE_SUBJID
Item
Subject ID used at the source repository
string
C2348585 (UMLS CUI [1,1])
C0449416 (UMLS CUI [1,2])
C3847505 (UMLS CUI [1,3])
Item
Case control status of the subject
text
C3274646 (UMLS CUI [1,1])
Code List
Case control status of the subject
CL Item
Control (1)

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