Linking single nucleotide polymorphisms to metabolic risk and matrix remodeling in abdominal aortic aneurysms

Abstract

This online credit internship was done with The Ramkhelawon Lab at the Department of Surgery, Division of Vascular and Endovascular Surgery at New York University (NYU) Langone Health. One of the research focus of Ramkhelawon Lab is on Abdominal Aortic Aneurysms (AAA) and its pathophysiology. Genetic hereditary has been linked to AAA. However, the pathobiological relevance of single nucleotide polymorphisms (SNPs) to the development of AAA is not fully known. This internship project focuses on unveiling the genetic predispositions of AAA through the use of data from Genome Wide Association Studies (GWAS) and previous genetic studies. Several bioinformatics methodologies were used to detect and investigate genes that are related to AAA and its impact on normal metabolic functions and disease pathology. Overall, this study found 86 SNP and 130 genes that are related to AAA and found that they are highly correlated to processes involved in matrix remodeling and metabolic function. Through this study, a library of SNPs and associated genes that manifest in the presence of risk factors of AAA was uncovered.