# Using genetics to discover mechanisms of abdominal aortic aneurysm

> **NIH NIH R01** · UNIVERSITY OF MICHIGAN AT ANN ARBOR · 2024 · $779,872

## Abstract

PROJECT SUMMARY/ABSTRACT
The goal of this R01 proposal is to advance our understanding of the genetic regulatory mechanisms
underlying the newly identified loci associated with abdominal aortic aneurysms (AAA), with the ultimate goal of
enabling earlier prevention and treatment of the disease. Our research team comprises individuals from
multiple areas of medical research, including high-throughput genetics, computational and statistical genetics,
and cardiovascular disease biology. Building upon our past research endeavors centered on coronary artery
disease and myocardial infarction, our focus is now to uncover the biological mechanisms that underscore
genetic loci linked to AAA, employing a combination of genetics, bioinformatics, as well as cell culture and
animal models. During the previous funding period, we have played a crucial role in the Million Hearts Initiative,
Global Biobank Meta-analysis Initiative (GBMI), Abdominal Aortic Aneurysm Genetics (AAAGen) Consortium,
and a substantial collaboration studying the genetics of atrial fibrillation. In this application, we have outlined
two specific aims: In Aim 1, we propose to combine the meta-analysis efforts from AAAGen and GBMI to
increase the sample size for candidate gene discovery related to AAA. We will fine-map the associated loci to
novel causal genes using bioinformatic tools, together with multi-omics data from abdominal aorta tissue, to
prioritize genes for biological follow-up studies. In Aim 2, we plan to define the functions of TCF7L2 within
vascular smooth muscle cells, and additionally, elucidate the functional roles of 2 to 5 newly identified
candidate genes from Aim 1, in the development of AAA. The accomplishment of these aims will provide
invaluable insights into the biological mechanisms underlying AAA and will reveal novel gene targets that hold
promise for the better diagnosis, prevention, and treatment of AAA.

## Key facts

- **NIH application ID:** 10978948
- **Project number:** 2R01HL109946-10A1
- **Recipient organization:** UNIVERSITY OF MICHIGAN AT ANN ARBOR
- **Principal Investigator:** YUQING Eugene CHEN
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2024
- **Award amount:** $779,872
- **Award type:** 2
- **Project period:** 2011-08-18 → 2028-05-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10978948

## Citation

> US National Institutes of Health, RePORTER application 10978948, Using genetics to discover mechanisms of abdominal aortic aneurysm (2R01HL109946-10A1). Retrieved via AI Analytics 2026-05-24 from https://api.ai-analytics.org/grant/nih/10978948. Licensed CC0.

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