DefinePK

Abstract

This study investigates the role of genetic factors in the development of aortic aneurysms (AAs), with a focus on early screening and prevention. By analyzing genetic data from 150 patients diagnosed with thoracic and abdominal aortic aneurysms, the study identifies several genetic variants significantly associated with increased aneurysm risk. Using whole-exome sequencing (WES) and SNP genotyping, a total of 35 genetic variants were identified, including 12 rare mutations and 23 common polymorphisms. Notably, variants in genes such as FBN1, TGFBR2, ELN, SMAD3, and COL3A1 were strongly linked to aortic aneurysm formation. The study further examines the impact of demographic factors, revealing that older male patients with a family history of aneurysms have a heightened genetic risk. Multivariable logistic regression analysis demonstrated that certain genetic variants, such as those in the TGF-β pathway, significantly increase the likelihood of developing aneurysms. The research also compares genetic screening with traditional clinical risk assessment, showing that genetic testing enhances early detection rates by 25%. A predictive model developed from the genetic risk factors demonstrated an AUC of 0.88, indicating high predictive accuracy. This study underscores the potential of integrating genetic screening into clinical practice for early identification and intervention, ultimately improving patient outcomes. The findings provide crucial insights into the genetic underpinnings of aortic aneurysms and highlight the need for personalized, genetics-based prevention strategies.