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The Journal of Cardiovascular Surgery 2021 Feb 10

DOI: 10.23736/S0021-9509.21.11810-5


language: English

Thoracic and abdominal aortic aneurysms: exploring their contrast and genetic associations

Arwa KHASHKHUSHA 1, Wahaj MUNIR 2, Mohamad BASHIR 3 , Mohammed IDHREES 4

1 University of Liverpool, Foundation Building, Brownlow Hill, Liverpool, UK; 2 Barts and the London School of Medicine and Dentistry, Queen Mary University of London, UK; 3 Vascular Surgery Department, Royal Blackburn Teaching Hospital, Blackburn, UK; 4 Institute of Cardiac and Aortic Disorders, SRM Institutes for Medical Science (SIMS Hospitals), Chennai, India


Until recently thoracic aortic aneurysm (TAA) and abdominal aortic aneurysm (AAA) were correlated with atherosclerosis but following a range of cohort studies, a linkage proved unlikely. Instead, data from the Genome wide association study detected two common significantly correlated lncRNA loci: miRNA and the antisense non-coding RNA in the INK4 locus (ANRIL). lncRNAs are sometimes utilised by the body as transcription regulators and signalling molecules. This is crucial in cell transformation and embryology, including that of the mammalian heart. ANRIL, a 19 exon RNA sequence found in the chromosome 9p21 region, will be one of the main focuses of this paper. We carried out a large and comprehensive literature search on PubMed and SCOPUS in order to collate all relevant papers that correlated TAA and AAA with each other and then with ANRIL. TAA and AAA have many differences due to their vessel walls but similarities in their gross anatomic structure prove a genetic correlated disease likely. ANRIL has a convincing potential to be used as an additive therapeutic tool in TAA and AAA. This is because Chr9p21 is independent of typical risk factors. However, it remains that further research and clinical studies are required before clinical translation. It is best to consider TAA and AAA separately as the underlying pathophysiology has some distinct differences. They are both commonly diagnosed really late and the hope is that genetic mutations (ANRIL) can act as a biomarker for a faster diagnosis, management and possible treatment alternative.

KEY WORDS: Genetics; AAA; TAA; ANRIL; Aorta

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