White, Eva Grace
(2024)
Investigating Genetic Determinants of Venous Thromboembolism in African Americans.
Master's Thesis, University of Pittsburgh.
(Unpublished)
Abstract
Venous thromboembolism (VTE), which includes deep vein thrombosis and pulmonary embolism, disproportionately affects African Americans, yet the genetic factors contributing to this disparity remain poorly understood. Current research has largely focused on predominantly White popula-tions, leading to the underrepresentation of African Americans in genomic studies. Identifying ge-netic variants that influence VTE risk in African Americans is crucial for developing targeted pre-vention and treatment strategies. To address this gap, I conducted a genome-wide association study (GWAS) of 1,074 VTE cases and 26,743 controls. The study employed logistic regression adjust-ing for age, sex, and principal components of ancestry. Only unrelated individuals were included to reduce potential biases from relatedness. Four genome-wide significant variants were identified: one intergenic variant near AC021193.1 on chromosome 4 and three variants located within the first intron of DCC on chromosome 18. The alternate alleles of these variants were associated with in-creased VTE risk (OR range: 2.86 to 4.27). The association of variants in DCC, a gene involved in tumor suppression that is highly expressed in brain and testis tissues, is intriguing because VTE is more common in individuals with a history of cancer. These findings, if validated, warrant further investigation to explore the functional impact of these variants and their potential role in VTE path-ogenesis. The identification of genetic variants associated with VTE in African Americans could ultimately lead to the development of precision medicine approaches for more effective risk as-sessment, prevention, and treatment strategies tailored to this high-risk population.
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| Item Type: |
University of Pittsburgh ETD
|
| Status: |
Unpublished |
| Creators/Authors: |
|
| ETD Committee: |
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| Date: |
18 December 2024 |
| Date Type: |
Publication |
| Defense Date: |
6 December 2024 |
| Approval Date: |
18 December 2024 |
| Submission Date: |
12 December 2024 |
| Access Restriction: |
2 year -- Restrict access to University of Pittsburgh for a period of 2 years. |
| Number of Pages: |
69 |
| Institution: |
University of Pittsburgh |
| Schools and Programs: |
School of Public Health > Human Genetics |
| Degree: |
MS - Master of Science |
| Thesis Type: |
Master's Thesis |
| Refereed: |
Yes |
| Uncontrolled Keywords: |
Genome-wide association study (GWAS)
Deep vein thrombosis (DVT)
Pulmonary embolism (PE)
Genetic disparities in African Americans |
| Date Deposited: |
18 Dec 2024 19:59 |
| Last Modified: |
18 Dec 2024 19:59 |
| URI: |
http://d-scholarship.pitt.edu/id/eprint/47245 |
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