ID

45413

Description

Principal Investigator: Edwin van den Oord, PhD, Virginia Commonwealth University, VA, USA MeSH: Schizophrenia https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000608 Schizophrenia (SCZ) is a devastating psychiatric disorder. The aim of this study was to detect DNA methylation (5meC) profiles in whole blood associated with SCZ. The sample consisted of schizophrenia cases and controls selected from national population registers in Sweden. We employed MBD protein-based enrichment of the methylated DNA fraction, followed by single end sequencing (50 bp reads) on the SOLiD platform. To improve methylome-wide coverage we used an existing protocol variant, which increases the relative number of fragments from CpG poor regions. To analyze the data, we used an analysis pipeline described elsewhere7, that was designed specifically for MBD-seq and included alignment, quality control (QC) of reads and samples, coverage calculations for the 26,752,702 autosomal CpGs in the reference genome using a non-parametric estimate of the fragment size distribution, an in silico experiment to identify CpGs in loci with alignment problems, a 2-stage adaptive algorithm to combine data from correlated adjacent CpG sites in "blocks", principal component analysis (PCA), association testing, bioinformatics annotation and network analysis. After QC, 1459 subjects with on average 32.4 million high quality reads remained. Association testing was performed on 4.3 million high quality blocks after regressing out possible assay related technical artifacts, sex/age, and unmeasured confounders through the PCA components.

Link

dbGaP-study=phs000608

Keywords

  1. 11/20/22 11/20/22 - Chiara Middel
Copyright Holder

Edwin van den Oord, PhD, Virginia Commonwealth University, VA, USA

Uploaded on

November 20, 2022

DOI

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License

Creative Commons BY 4.0

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dbGaP phs000608 Whole Genome Profiling to Detect Schizophrenia Methylation Markers

Subject ID, consent group, subject source, subject source ID, and affection status of participants with or without schizophrenia and involved in the "Whole Genome Profiling to Detect Schizophrenia Methylation Markers" project.

pht003342
Description

pht003342

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

SUBJECT_ID

Data type

string

Alias
UMLS CUI [1,1]
C2348585
Consent group
Description

CONSENT

Data type

text

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

SUBJECT_SOURCE

Data type

string

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

SOURCE_SUBJECT_ID

Data type

string

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

AFFECTION_STATUS

Data type

text

Alias
UMLS CUI [1,1]
C3274646

Similar models

Subject ID, consent group, subject source, subject source ID, and affection status of participants with or without schizophrenia and involved in the "Whole Genome Profiling to Detect Schizophrenia Methylation Markers" project.

Name
Type
Description | Question | Decode (Coded Value)
Data type
Alias
Item Group
pht003342
C3846158 (UMLS CUI [1,1])
SUBJECT_ID
Item
Subject ID
string
C2348585 (UMLS CUI [1,1])
Item
Consent group
text
C0021430 (UMLS CUI [1,1])
Code List
Consent group
CL Item
General Research Use (GRU) (1)
C0021430 (UMLS CUI [1,1])
C0242481 (UMLS CUI [1,2])
SUBJECT_SOURCE
Item
Source repository where subjects originate
string
C3847505 (UMLS CUI [1,1])
C0449416 (UMLS CUI [1,2])
C0681850 (UMLS CUI [1,3])
SOURCE_SUBJECT_ID
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 (0)
C3274648 (UMLS CUI [1,1])
CL Item
Schizophrenia Case (1)

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