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Idiopathic Pulmonary Fibrosis (IPF) Genome-wide Association Study

Population Size

Not reported
Population Size statistic card

Years

2019 - 2019

Years statistic card

Associated BioSamples

None/not available

Associated BioSamples statistic card

Geographic coverage

United Kingdom

United States

Geographic coverage statistic card

Lead time

Other

Lead time statistic card

Summary

Meta-analysis of GWAS of IPF susceptibility. Building up on published GWAS results (PMID: 24429156, 23583980, 29066090) and novel study samples to identify novel genes and further advance in the understanding of IPF pathogenesis and risk.

Documentation

https://doi.org/10.1164/rccm.201905-1017OC

Idiopathic pulmonary fibrosis (IPF) is characterized by the build-up of scar tissue in the lungs. It is believed that the damage to the alveolar epithelium is followed by an aberrant wound healing response leading to the deposition of dense fibrotic tissue, reducing the lungs’ flexibility and inhibiting gas transfer. IPF still has limited therapeutic interventions and a high mortality rate within 3-5 years from diagnosis. To date, genome-wide association studies (GWAS) of IPF susceptibility have associated common variants (minor allele frequency [MAF]>5%) near genes involved in host defence, telomere maintenance, cell-cell adhesion and signalling in disease susceptibility. Meta-analysis of GWAS of IPF susceptibility. Building up on published GWAS results (PMID: 24429156, 23583980, 29066090) and novel study samples, we have performed the largest GWAS of IPF susceptibility to date to identify novel genes and further advance in the understanding of IPF pathogenesis and risk (bioRxiv https://doi.org/10.1101/636761 and PMID:31710517). The discovery stage of the study comprised up to 2,668 IPF cases and 8,591 controls from 3 studies (Chicago study: 541 IPF cases and 542 controls, Colorado study: 1515 fibrotic Idiopathic Interstitial pneumonia cases and 4683 controls, UK Study: 612 IPF cases and 3366 controls) and replication was pursued in an additional 1,456 IPF cases and 11,874 controls. The genome-wide association study summary statistics from the meta-analysis of three studies totalling 2,668 cases and 8,591 controls are available here.

Dataset type

Health and disease

Dataset sub-type

Not applicable

Keywords

Provenance

Image contrast

Not stated

Biological sample availability

None/not available

Details

Publishing frequency

Static

Version

1.0.0

Modified

08/10/2024

Distribution release date

22/10/2019

Citation Requirements

Department of Health Sciences, University of Leicester, UK

Coverage

Start date

14/05/2019

End date

22/10/2019

Time lag

Not applicable

Geographic coverage

United Kingdom, United States

Maximum age range

150

Accessibility

Language

en

Controlled vocabulary

LOCAL

Format

Tab delimited text

Data Access Request

Dataset pipeline status

Not available

Time to dataset access

Other

Access request cost

No cost to access full GWAS Summary statistics (https://github.com/genomicsITER/PFgenetics)

Data Controller

Department of Health Sciences, University of Leicester, UK

Data Processor

Department of Health Sciences, University of Leicester, UK

Dataset Types: Health and disease


Collection Sources:

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