Implications of the Associations Between Structural Variants and Single Nucleotide Polymorphisms for Coronary Artery Disease Risk

Pavic, B.

Implications of the Associations Between Structural Variants and Single Nucleotide Polymorphisms for Coronary Artery Disease Risk

Bachelor thesis (2024)

Authors

B. Pavic Electrical Engineering, Mathematics and Computer Science

Contributors

N. Tesi Pattern Recognition and Bioinformatics - (mentor)

Marcel J.T. Reinders Pattern Recognition and Bioinformatics - (mentor)

A.E. Zaidman Software Technology (graduation committee member)

Faculty

Electrical Engineering, Mathematics and Computer Science, Electrical Engineering, Mathematics and Computer Science

GWAS Coronary artery disease EQTL Single nucleotide polymorphism Structural variant

To reference this document use:

http://resolver.tudelft.nl/uuid:c22d6325-e763-433e-bad5-b2da99c47f85

More Info

expand_more

Published Date

28-06-2024

Language

English

Reuse Rights

Other than for strictly personal use, it is not permitted to download, forward or distribute the text or part of it, without the consent of the author(s) and/or copyright holder(s), unless the work is under an open content license such as Creative Commons.

Faculty

Electrical Engineering, Mathematics and Computer Science

Abstract

Coronary artery disease (CAD) is a condition characterized by the narrowing or blockage of the arteries that supply blood to the heart. It is a major global health burden and is known to be correlated with genetics, but the details of the genetic contribution remain unclear. In this study, we explored the associations between structural variants (SVs) and single nucleotide polymorphisms (SNPs) identified through previous CAD genome-wide association studies (GWAS). We identified the most relevant associations by ranking them using a proposed composite score, combining effect sizes and p-values. Filtering was applied to keep the most significant associations within a 500kb genomic window, resulting in 968 SNP-SV associations. Cross-referencing with tissue-specific eQTL data from the GTEx Portal indicated 321 SNP-SV associations that impact gene expression in coronary artery tissue. GSEA identified associated pathways involving dopachrome isomerase, phenylpyruvate tautomerase, and
catalytic activity. The results suggest that the SVs make an important contribution to the regulation of CAD-related gene expression and the overall risk of CAD.

Files

Boris_Pavic_RP_Final.pdf

(pdf | 15.7 Mb)

Unknown license