ID

46004

Description

Principal Investigator: Stephen L. Guthery, M.D., M.S, University of Utah Health Sciences, Department of Pediatrics, Salt Lake City, UT, USA MeSH: https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000926 The overall goal of this proposed project is to identify rare genetic variants contributing to childhood onset-Crohn disease. Crohn disease is a chronic inflammatory disorder of the gastrointestinal tract of unclear etiology and no known cure. Affected children suffer from diarrhea, abdominal pain, growth disturbances, and an impaired quality of life. The identified Crohn disease susceptibility alleles have improved our understanding of Crohn disease pathogenesis. However, the identified susceptibility alleles do not account for the observed heritability, nor have disease-causing alleles in many genomic regions been identified. For the proposed studies, we will use 1) existing DNA samples collected from high-risk Crohn kindreds identified using the extensive genealogical records available only in Utah, 2) existing DNA samples obtained from very young children with Crohn disease and their parents, and 3) existing DNA samples obtained from healthy controls that are free of a personal or family history of autoimmune disorders.

Link

dbGaP study=phs000926

Keywords

Versions (1)
  1. 4/28/24 4/28/24 - Madita Rudolph
Copyright Holder

Stephen L. Guthery, M.D., M.S, University of Utah Health Sciences, Department of Pediatrics, Salt Lake City, UT, USA

Uploaded on

April 28, 2024

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License

Creative Commons BY 4.0
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dbGaP phs000926 Rare disease susceptibility alleles in children with Crohn disease

English

Eligibility Criteria

6 forms  
Inclusion and exclusion criteria
Description

Inclusion and exclusion criteria

Alias
UMLS CUI [1,1]
C1512693
UMLS CUI [1,2]
C0680251
The affected child in the current study was selected from > 300 children with Crohn disease onset younger than age 12 years. Crohn disease was defined using standard clinical, radiographic, endoscopic, and histological criteria described in the NIDDK IBD Genetics Consortium Phenotyping Form and Manual.
Description

Elig.phs000926.v1.p1.1

Data type

boolean

Alias
UMLS CUI [1,1]
C1512693
UMLS CUI [1,2]
C1706256
UMLS CUI [1,3]
C0010346
UMLS CUI [1,4]
C0206132
The source of controls are DNA samples selected from ~1000 samples that we collected from healthy adults. At enrollment, we screened these individuals for a personal or family history of 15 autoimmune conditions, and a personal or family history of diarrhea and/or unexplained rectal bleeding and excluded them if they had any of these present.
Description

Elig.phs000926.v1.p1.2

Data type

boolean

Alias
UMLS CUI [1,1]
C0009932
UMLS CUI [1,2]
C3898900
UMLS CUI [1,3]
C0012854
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Similar models

Eligibility Criteria

6 forms
Name
Type
Description | Question | Decode (Coded Value)
Data type
Alias
Item Group
Inclusion and exclusion criteria
C1512693 (UMLS CUI [1,1])
C0680251 (UMLS CUI [1,2])
Elig.phs000926.v1.p1.1
Item
The affected child in the current study was selected from > 300 children with Crohn disease onset younger than age 12 years. Crohn disease was defined using standard clinical, radiographic, endoscopic, and histological criteria described in the NIDDK IBD Genetics Consortium Phenotyping Form and Manual.
boolean
C1512693 (UMLS CUI [1,1])
C1706256 (UMLS CUI [1,2])
C0010346 (UMLS CUI [1,3])
C0206132 (UMLS CUI [1,4])
Elig.phs000926.v1.p1.2
Item
The source of controls are DNA samples selected from ~1000 samples that we collected from healthy adults. At enrollment, we screened these individuals for a personal or family history of 15 autoimmune conditions, and a personal or family history of diarrhea and/or unexplained rectal bleeding and excluded them if they had any of these present.
boolean
C0009932 (UMLS CUI [1,1])
C3898900 (UMLS CUI [1,2])
C0012854 (UMLS CUI [1,3])
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