# Unraveling the Complexities of COPD: Modeling COPD Outcomes and Phenotype Associations Using Electronic Health Records

> **NIH NIH F30** · VANDERBILT UNIVERSITY · 2020 · $50,520

## Abstract

Project Summary
This project proposes to investigate the genetics of chronic obstructive pulmonary disease (COPD) using
germline DNA linked to electronic health records (EHR) to discover new insights into the pathogenesis of the
disease. COPD is the third leading cause of mortality worldwide and in the U.S., affecting 6.3% of the U.S.
population. COPD is difficult to diagnose and highly heterogeneous in its presentation, with individuals
experiencing different symptoms, complications, and outcomes. We intend to fill key gaps in our knowledge
about COPD with this project. We hypothesize that combining a strategy that interrogates clinical
characteristics (phenotypes) in the EHR of a large population with in-depth genomic analysis of the
germline DNA will allow us to make a significant contribution to understanding the genetic factors
associated with COPD. While various mechanisms for development and progression of COPD have been
proposed, the biological mechanisms remain poorly understood. Genome-wide association studies have
uncovered genetic associations with COPD, but there is little information about the biological pathways
affected by these variants. By testing the association between multiple variants or gene expression and COPD,
we hope to gain greater insights into the pathogenesis of this disease. Vanderbilt University Medical Center
(VUMC) is an ideal location for Ms. Martucci's training given the unique resources available. VUMC has
developed a de-identified EHR with over 2.1 million adult participants, with 220,000 individuals providing
germline DNA. Over 22,000 individuals have had their DNA genotyped using the Illumina MEGA genome-wide
array. By leveraging bioinformatics tools, this project will develop an algorithm for COPD within EHR, build
genetic risk scores for COPD, and identify gene expression changes associated with COPD. Ms. Martucci will
be mentored by experts in the fields of pulmonary disease and genetic epidemiology (Dr. Melinda Aldrich) and
statistical genetics (Dr. Nancy Cox). In Aim 1, we will build an algorithm to identify COPD within the Vanderbilt
EHR. Aim 2 will focus on building genetic risk scores for COPD and related phenotypes to investigate COPD
pathogenesis and heterogeneity. In Aim 3, we will investigate gene expression changes associated with COPD
and reduced lung function. The planned project will provide novel information that has the potential to lead to
precision medicine discoveries for disease prevention, diagnosis, and management. The integrated rigorous
research and clinical training experience gained from this career development award will enhance Ms.
Martucci's potential to develop into a productive independent physician-scientist with a focus on biomedical
research in pulmonary disease.

## Key facts

- **NIH application ID:** 9983171
- **Project number:** 5F30HL140756-03
- **Recipient organization:** VANDERBILT UNIVERSITY
- **Principal Investigator:** Victoria Martucci
- **Activity code:** F30 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $50,520
- **Award type:** 5
- **Project period:** 2018-09-01 → 2021-08-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/9983171

## Citation

> US National Institutes of Health, RePORTER application 9983171, Unraveling the Complexities of COPD: Modeling COPD Outcomes and Phenotype Associations Using Electronic Health Records (5F30HL140756-03). Retrieved via AI Analytics 2026-05-22 from https://api.ai-analytics.org/grant/nih/9983171. Licensed CC0.

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