ID

45394

Beschrijving

Principal Investigator: Stephen Warren, PhD, Emory University, Atlanta, GA, USA MeSH: Autistic Disorder,Autism https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000619 Autism is a common disorder whose causes are poorly understood. Both genetic and environmental influences are thought to act together causing autism. Epigenetics is an area that bridges genetic and environmental influencing and commonly is studied by examining dynamic methylation changes to the DNA. We have screened a total of 78 autistic boys and their fathers by this method in 807 genes and find 116 methylation changes that together can correctly identify nearly 80% of the affected boys from their fathers. We propose to confirm these exciting data in a much larger set of genes in 1,200 autistic boys and their families, including unaffected brothers. These data not only could provide new insight into the causes of autism but could also result in a screening test for autism.

Link

dbGaP study = phs000619

Trefwoorden

  1. 15-11-22 15-11-22 - Simon Heim
Houder van rechten

Stephen Warren, PhD, Emory University, Atlanta, GA, USA

Geüploaded op

15 november 2022

DOI

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Licentie

Creative Commons BY 4.0

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dbGaP phs000619 Epigenetic Marks as Peripheral Biomarkers of Autism

Subject - Consent - Affection Status Information

pht003351
Beschrijving

pht003351

Alias
UMLS CUI [1,1]
C3846158
Subject ID
Beschrijving

SUBJID

Datatype

string

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

CONSENT

Datatype

text

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

SUBJ_SOURCE

Datatype

string

Alias
UMLS CUI [1,1]
C3847505
UMLS CUI [1,2]
C0449416
UMLS CUI [1,3]
C0681850
Subject ID used in the Source Repository
Beschrijving

SOURCE_SUBJID

Datatype

string

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

AFFECTION_STATUS

Datatype

text

Alias
UMLS CUI [1,1]
C3274646

Similar models

Subject - Consent - Affection Status Information

Name
Type
Description | Question | Decode (Coded Value)
Datatype
Alias
Item Group
pht003351
C3846158 (UMLS CUI [1,1])
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
General Research Use (GRU) (1)
C0021430 (UMLS CUI [1,1])
C0242481 (UMLS CUI [1,2])
SUBJ_SOURCE
Item
Source repository where subjects originate
string
C3847505 (UMLS CUI [1,1])
C0449416 (UMLS CUI [1,2])
C0681850 (UMLS CUI [1,3])
SOURCE_SUBJID
Item
Subject ID used in the Source Repository
string
C2348585 (UMLS CUI [1,1])
C3847505 (UMLS CUI [1,2])
C0449416 (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)
C3274648 (UMLS CUI [1,1])
CL Item
Case (2)
C3274647 (UMLS CUI [1,1])

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