# (1 of 2) Genetic Epidemiology of COPD

> **NIH NIH U01** · NATIONAL JEWISH HEALTH · 2021 · $6,661,979

## Abstract

PROJECT SUMMARY / ABSTRACT
Chronic obstructive pulmonary disease (COPD), the third leading cause of death in the United States,
is a heterogeneous syndrome. Comprehensive insight into COPD heterogeneity requires longitudinal
data to elucidate the genetic, clinical, and radiographic determinants of disease progression. This
proposal will extend the COPDGene Study by performing ten-year longitudinal follow-up visits on all
available COPDGene subjects, with follow-up chest CT scans. The primary goals of COPDGene are:
a) To identify new genetic loci that influence the development of COPD and COPD-related phenotypes;
b) To reclassify COPD into subtypes that can ultimately be used to develop effective subtype-specific
therapies; and c) To translate the findings in COPDGene to improve diagnostic and prognostic
approaches to COPD in general clinical populations. The primary hypothesis for this renewal
application is that extensive genetic and longitudinal phenotypic data in subjects with COPD or at risk
for COPD will enable creation and validation of a new classification system for COPD with distinct
diagnostic and prognostic implications. The specific aims are: 1) To evaluate progression of COPD by
completing a ten-year follow-up of all available subjects in the COPDGene cohort using clinical
phenotyping and both quantitative and visual analysis of chest CT scans; 2) To use whole genome
sequencing analysis on the COPDGene cohort to identify both rare and common genetic determinants
of susceptibility and progression of disease in COPD subtypes and to create effective genetic risk
scores for COPD; and 3) To translate COPDGene findings on COPD subtypes and genetics to general
clinical populations by interaction with clinical Lung Cancer Screening Programs. It is anticipated that
whole genome sequencing analysis will be completed on the entire COPDGene cohort through the
TOPMed program. This data in combination with ten-year longitudinal clinical data and CT imaging
data on the cohort is expected to enable identification of novel genetic associations for unique COPD
subtypes. The long-term goal is to enable enhanced diagnostic, prognostic and therapeutic
approaches for personalized therapy in COPD.

## Key facts

- **NIH application ID:** 10237355
- **Project number:** 5U01HL089897-15
- **Recipient organization:** NATIONAL JEWISH HEALTH
- **Principal Investigator:** James D Crapo
- **Activity code:** U01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2021
- **Award amount:** $6,661,979
- **Award type:** 5
- **Project period:** 2007-09-27 → 2023-07-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10237355

## Citation

> US National Institutes of Health, RePORTER application 10237355, (1 of 2) Genetic Epidemiology of COPD (5U01HL089897-15). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/10237355. Licensed CC0.

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