ID

45449

Description

Principal Investigator: David A. Schwartz, MD, University of Colorado, Denver - Aurora, CO, USA MeSH: Lung Diseases, Interstitial,Idiopathic Interstitial Pneumonias,Idiopathic Pulmonary Fibrosis,Familial Idiopathic Pulmonary Fibrosis https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000751 This study was a case-control genome-wide association study of 1616 non-Hispanic white cases and 4683 controls. Under an additive model for the minor allele at each SNP, we identified 19 SNPs, representing 7 chromosomal locations (5p15, 6p24, 7q22, 11p15, 15q14-15, 17q21, and 19p13), with genome-wide significant (P 5x10-8) associations using the discovery samples included in this submission. We genotyped the 19 genome-wide significant SNPs in addition to 178 SNPs with 5x10-8 P-value .0001 and found 4 additional loci (3q26, 4q22, 10q24, and13q34) with genome-wide significant SNPs in the meta-analysis.

Link

dbGaP-study=phs000751

Keywords

Versions (1)
  1. 2022-12-10 2022-12-10 - Chiara Middel
Copyright Holder

David A. Schwartz, MD, University of Colorado, Denver - Aurora, CO, USA

Uploaded on

10 december 2022

DOI

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License

Creative Commons BY 4.0
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dbGaP phs000751 GWAS in Fibrosing Interstitial Lung Disease

English

Eligibility Criteria

5 forms  
Inclusion and exclusion criteria
Description

Inclusion and exclusion criteria

Alias
UMLS CUI [1,1]
C1512693
UMLS CUI [1,2]
C0680251
We used standard criteria established by the American Thoracic Society/European Respiratory Society in 2001 (Am J Respir Crit Care Med., 2002) to determine diagnostic classification of all patients in the discovery and replication phases. We excluded cases with known explanations for development of fibrotic IIP including infections, systemic disorders, or relevant exposures (e.g. asbestos). We included only non-Hispanic white participants.
Description

Elig.phs000751.v1.p1.1

Data type

boolean

Alias
UMLS CUI [1,1]
C0348026
UMLS CUI [1,2]
C0008902
UMLS CUI [1,3]
C1880355
UMLS CUI [1,4]
C1883725
UMLS CUI [1,5]
C0205390
UMLS CUI [2,1]
C0680251
UMLS CUI [2,2]
C0681841
UMLS CUI [2,3]
C1527148
UMLS CUI [2,4]
C0334129
UMLS CUI [2,5]
C0206062
UMLS CUI [2,6]
C3714514
UMLS CUI [2,7]
C0442893
UMLS CUI [2,8]
C2347946
UMLS CUI [2,9]
C0332157
UMLS CUI [2,10]
C0018626
UMLS CUI [3,1]
C1512693
UMLS CUI [3,2]
C0043157
UMLS CUI [3,3]
C1518424
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Similar models

Eligibility Criteria

5 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.phs000751.v1.p1.1
Item
We used standard criteria established by the American Thoracic Society/European Respiratory Society in 2001 (Am J Respir Crit Care Med., 2002) to determine diagnostic classification of all patients in the discovery and replication phases. We excluded cases with known explanations for development of fibrotic IIP including infections, systemic disorders, or relevant exposures (e.g. asbestos). We included only non-Hispanic white participants.
boolean
C0348026 (UMLS CUI [1,1])
C0008902 (UMLS CUI [1,2])
C1880355 (UMLS CUI [1,3])
C1883725 (UMLS CUI [1,4])
C0205390 (UMLS CUI [1,5])
C0680251 (UMLS CUI [2,1])
C0681841 (UMLS CUI [2,2])
C1527148 (UMLS CUI [2,3])
C0334129 (UMLS CUI [2,4])
C0206062 (UMLS CUI [2,5])
C3714514 (UMLS CUI [2,6])
C0442893 (UMLS CUI [2,7])
C2347946 (UMLS CUI [2,8])
C0332157 (UMLS CUI [2,9])
C0018626 (UMLS CUI [2,10])
C1512693 (UMLS CUI [3,1])
C0043157 (UMLS CUI [3,2])
C1518424 (UMLS CUI [3,3])
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