ID

45194

Description

Principal Investigator: Steven R. Brant, MD, Johns Hopkins University, Baltimore, MD, USA MeSH: Crohn Disease,Colitis, Ulcerative,Inflammatory Bowel Diseases https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000367 The National Institute of Diabetes and Digestive and Kidney Diseases Inflammatory Bowel Disease Genetics Consortium (NIDDK - IBDGC) conducted a genome wide association study (GWAS) using the Human Omni2.5-Quad beadchip from Illumina to identify disease variants associated with familial Crohn's disease. This study includes a subset of individuals from an original cohort of affected subjects and affected/unaffected relatives from a previous linkage scan which showed increased linkage evidence at three novel risk loci. A total of 708 samples were selected based on various criteria for inclusion from the 6 Genetic Research Centers (GRC) in North America that participate in the IBDGC. This project was supported by an ancillary R01 grant from the NIDDK with resources made available through the IBDGC.

Link

dbGaP study = phs000367

Keywords

  1. 8/19/22 8/19/22 - Simon Heim
  2. 10/12/22 10/12/22 - Adrian Schulz
Copyright Holder

Steven R. Brant, MD, Johns Hopkins University, Baltimore, MD, USA

Uploaded on

October 12, 2022

DOI

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License

Creative Commons BY 4.0

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dbGaP phs000367 Genome Wide Association Study in Familial Crohn's Disease

Sample ID, body site where sample was collected, genomic data, analyte data, tumor status, and histological type of samples of participants with or without Crohn's disease and involved in the "NIDDK Inflammatory Bowel Disease Genetics Consortium (IBDGC) Genome Wide Association Study in Familial Crohn's Disease" project.

pht003264
Description

pht003264

De-identified sample ID
Description

LOCALID

Data type

string

Alias
UMLS CUI [1,1]
C2346787
UMLS CUI [1,2]
C1299222
Body site where sample was collected
Description

BODY_SITE

Data type

string

Alias
UMLS CUI [1,1]
C0449705
Genomic or WGA data
Description

GENOMIC_WGA

Data type

text

Alias
UMLS CUI [1,1]
C1609081
Analyte type
Description

ANALYTE_TYPE

Data type

string

Alias
UMLS CUI [1,1]
C4744818
Tumor status
Description

IS_TUMOR

Data type

text

Alias
UMLS CUI [1,1]
C0475752
Cell or tissue type or subtype of sample
Description

HISTOLOGICAL_TYPE

Data type

string

Alias
UMLS CUI [1,1]
C2713035

Similar models

Sample ID, body site where sample was collected, genomic data, analyte data, tumor status, and histological type of samples of participants with or without Crohn's disease and involved in the "NIDDK Inflammatory Bowel Disease Genetics Consortium (IBDGC) Genome Wide Association Study in Familial Crohn's Disease" project.

Name
Type
Description | Question | Decode (Coded Value)
Data type
Alias
Item Group
pht003264
LOCALID
Item
De-identified sample ID
string
C2346787 (UMLS CUI [1,1])
C1299222 (UMLS CUI [1,2])
BODY_SITE
Item
Body site where sample was collected
string
C0449705 (UMLS CUI [1,1])
GENOMIC_WGA
Item
Genomic or WGA data
text
C1609081 (UMLS CUI [1,1])
ANALYTE_TYPE
Item
Analyte type
string
C4744818 (UMLS CUI [1,1])
Item
Tumor status
text
C0475752 (UMLS CUI [1,1])
Code List
Tumor status
CL Item
Is not a tumor (N)
CL Item
Is Tumor (Y)
HISTOLOGICAL_TYPE
Item
Cell or tissue type or subtype of sample
string
C2713035 (UMLS CUI [1,1])

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