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胸主动脉瘤和腹主动脉瘤:探索它们的造影剂和基因关联。

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

作者信息

Khashkhusha Arwa, Munir Wahaj, Bashir Mohamad, Idhrees Mohammed

机构信息

University of Liverpool, Brownlow Hill, Liverpool, UK.

Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK.

出版信息

J Cardiovasc Surg (Torino). 2021 Jun;62(3):211-219. doi: 10.23736/S0021-9509.21.11810-5. Epub 2021 Feb 10.

DOI:10.23736/S0021-9509.21.11810-5
PMID:33565748
Abstract

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 utilized by the body as transcription regulators and signaling 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. 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 late, and the hope is that genetic mutations (ANRIL) can act as a biomarker for a faster diagnosis, management and possible treatment alternative.

摘要

直到最近,胸主动脉瘤(TAA)和腹主动脉瘤(AAA)还被认为与动脉粥样硬化有关,但一系列队列研究表明,这种关联不太可能成立。相反,全基因组关联研究的数据检测到两个常见的显著相关lncRNA位点:miRNA和INK4位点的反义非编码RNA(ANRIL)。lncRNA有时被身体用作转录调节因子和信号分子。这在细胞转化和胚胎学中至关重要,包括哺乳动物心脏的胚胎学。ANRIL是一种在9号染色体p21区域发现的由19个外显子组成的RNA序列,将是本文的主要研究重点之一。TAA和AAA由于血管壁不同而存在许多差异,但它们大体解剖结构上的相似性表明这可能是一种基因相关疾病。ANRIL有令人信服的潜力作为TAA和AAA的辅助治疗工具。这是因为9号染色体p21独立于典型风险因素。然而,在临床转化之前仍需要进一步的研究和临床研究。最好将TAA和AAA分开考虑,因为它们的潜在病理生理学存在一些明显差异。它们通常都在晚期才被诊断出来,希望基因突变(ANRIL)能够作为一种生物标志物,实现更快的诊断、管理以及可能的治疗选择。

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