ID

45194

Descripción

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

Palabras clave

  1. 19/8/22 19/8/22 - Simon Heim
  2. 12/10/22 12/10/22 - Adrian Schulz
Titular de derechos de autor

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

Subido en

12 de octubre de 2022

DOI

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Licencia

Creative Commons BY 4.0

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

Subject ID, sex, race, affection status, and diagnosis 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.

pht003263
Descripción

pht003263

De-identified subject ID
Descripción

SUBJID

Tipo de datos

string

Alias
UMLS CUI [1,1]
C2346787
UMLS CUI [1,2]
C2348585
Gender of participant
Descripción

SEX

Tipo de datos

text

Alias
UMLS CUI [1,1]
C0079399
Race of participant [White]
Descripción

RACE

Tipo de datos

string

Alias
UMLS CUI [1,1]
C0034510
Inflammatory bowel disease affection status of participant [Affected, Unaffected]
Descripción

AFFECTION

Tipo de datos

string

Alias
UMLS CUI [1,1]
C0021390
IBD diagnosis of affected participant [Crohn's Disease, Ulcerative Colitis, Indeterminate Colitis]
Descripción

DIAGNOSIS

Tipo de datos

string

Alias
UMLS CUI [1,1]
C0021390
UMLS CUI [1,2]
C0010346
UMLS CUI [1,3]
C0009324
UMLS CUI [1,4]
C0341332

Similar models

Subject ID, sex, race, affection status, and diagnosis 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
Tipo
Description | Question | Decode (Coded Value)
Tipo de datos
Alias
Item Group
pht003263
SUBJID
Item
De-identified subject ID
string
C2346787 (UMLS CUI [1,1])
C2348585 (UMLS CUI [1,2])
Item
Gender of participant
text
C0079399 (UMLS CUI [1,1])
Code List
Gender of participant
CL Item
Male (1)
CL Item
Female (2)
RACE
Item
Race of participant [White]
string
C0034510 (UMLS CUI [1,1])
AFFECTION
Item
Inflammatory bowel disease affection status of participant [Affected, Unaffected]
string
C0021390 (UMLS CUI [1,1])
DIAGNOSIS
Item
IBD diagnosis of affected participant [Crohn's Disease, Ulcerative Colitis, Indeterminate Colitis]
string
C0021390 (UMLS CUI [1,1])
C0010346 (UMLS CUI [1,2])
C0009324 (UMLS CUI [1,3])
C0341332 (UMLS CUI [1,4])

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