Download PDF
CC BY-NC-ND 4.0 · Aorta (Stamford) 2024; 12(01): 008-012
DOI: 10.1055/s-0044-1791667
Review Article

Gene Commonality in Arterial Circuits Throughout the Body

Lisa C. Harling
1   Aortic Institute at Yale New Haven, Yale Medicine Department of Surgery, Yale University, New Haven, Connecticut
2   Otto von Guericke University Medical School, Magdeburg, Germany
,
Mohammad A. Zafar
1   Aortic Institute at Yale New Haven, Yale Medicine Department of Surgery, Yale University, New Haven, Connecticut
,
Bulat Ziganshin
1   Aortic Institute at Yale New Haven, Yale Medicine Department of Surgery, Yale University, New Haven, Connecticut
,
John A. Elefteriades 
1   Aortic Institute at Yale New Haven, Yale Medicine Department of Surgery, Yale University, New Haven, Connecticut
› Author Affiliations
› Further Information
Also available at
   Permissions and Reprints

Abstract

The common genetic underpinnings of thoracic aortic aneurysms and aneurysms and dissections of several other major arterial circuits have been described in the literature. These include thoracic and abdominal aortic aneurysms, thoracic and intracranial aneurysms, thoracic aortic aneurysms, and spontaneous coronary artery dissections. In this study, we provide a unified report of these observations and investigate any genetic commonality between the above four arterial circulations.

Keywords

thoracic aortic aneurysm - thoracic aortic dissection - abdominal aortic aneurysm - intracranial aneurysm - spontaneous coronary artery dissections - genetics - dissection - arterial circuits


Publication History

Received: 28 June 2024

Accepted: 01 September 2024

Article published online:
12 November 2024

© 2024. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)

Thieme Medical Publishers, Inc.
333 Seventh Avenue, 18th Floor, New York, NY 10001, USA

 

  • References

  • 1 Gyftopoulos A, Ziganshin BA, Elefteriades JA, Ochoa Chaar CI. Comparison of genes associated with thoracic and abdominal aortic aneurysms. Aorta (Stamford) 2023; 11 (03) 125-134
    Thieme ConnectPubMedSearch in Google Scholar
  • 2 Jeoffrey SMH, Kalyanasundaram A, Zafar MA, Ziganshin BA, Elefteriades JA. Genetic overlap of spontaneous dissection of either the thoracic aorta or the coronary arteries. Am J Cardiol 2023; 205: 69-74
    CrossrefPubMedSearch in Google Scholar
  • 3 Lee VS, Halabi CM, Hoffman EP. et al; Brigham Genomic Medicine. Loss of function mutation in LOX causes thoracic aortic aneurysm and dissection in humans. Proc Natl Acad Sci U S A 2016; 113 (31) 8759-8764
    CrossrefPubMedSearch in Google Scholar
  • 4 Takeda N, Komuro I. Genetic basis of hereditary thoracic aortic aneurysms and dissections. J Cardiol 2019; 74 (02) 136-143
    CrossrefPubMedSearch in Google Scholar
  • 5 Guemann AS, Andrieux J, Petit F. et al. ELN gene triplication is responsible for familial supravalvular aortic aneurysm. Cardiol Young 2015; 25 (04) 712-717
    CrossrefPubMedSearch in Google Scholar
  • 6 Saracini C, Bolli P, Sticchi E. et al. Polymorphisms of genes involved in extracellular matrix remodeling and abdominal aortic aneurysm. J Vasc Surg 2012; 55 (01) 171-179.e2
    CrossrefPubMedSearch in Google Scholar
  • 7 Wei X, Sun Y, Wu Y. et al. Downregulation of Talin-1 expression associates with increased proliferation and migration of vascular smooth muscle cells in aortic dissection. BMC Cardiovasc Disord 2017; 17 (01) 162
    CrossrefPubMedSearch in Google Scholar
  • 8 Micha D, Guo DC, Hilhorst-Hofstee Y. et al. SMAD2 mutations are associated with arterial aneurysms and dissections. Hum Mutat 2015; 36 (12) 1145-1149
    CrossrefPubMedSearch in Google Scholar
  • 9 Bertoli-Avella AM, Gillis E, Morisaki H. et al. Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections. J Am Coll Cardiol 2015; 65 (13) 1324-1336
    CrossrefPubMedSearch in Google Scholar
  • 10 Vermeer AMC, Lodder EM, Thomas D. et al. Dilation of the aorta ascendens forms part of the clinical spectrum of HCN4 mutations. J Am Coll Cardiol 2016; 67 (19) 2313-2315
    CrossrefPubMedSearch in Google Scholar
  • 11 Zhou Z, Liu Y, Gao S. et al. Excessive DNA damage mediates ECM degradation via the RBBP8/NOTCH1 pathway in sporadic aortic dissection. Biochim Biophys Acta Mol Basis Dis 2022; 1868 (02) 166303
    CrossrefPubMedSearch in Google Scholar
  • 12 Guo DC, Regalado E, Casteel DE. et al; GenTAC Registry Consortium, National Heart, Lung, and Blood Institute Grand Opportunity Exome Sequencing Project. Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections. Am J Hum Genet 2013; 93 (02) 398-404
    CrossrefPubMedSearch in Google Scholar
  • 13 Wang Y, Starovoytov A, Murad AM. et al. Burden of rare genetic variants in spontaneous coronary artery dissection with high-risk features. JAMA Cardiol 2022; 7 (10) 1045-1055
    CrossrefPubMedSearch in Google Scholar
  • 14 Kuo DS, Labelle-Dumais C, Gould DB. COL4A1 and COL4A2 mutations and disease: insights into pathogenic mechanisms and potential therapeutic targets. Hum Mol Genet 2012; 21 (R1): R97-R110
    CrossrefPubMedSearch in Google Scholar
  • 15 Li Z, Zhou C, Tan L. et al. Variants of genes encoding collagens and matrix metalloproteinase system increased the risk of aortic dissection. Sci China Life Sci 2017; 60 (01) 57-65
    CrossrefPubMedSearch in Google Scholar
  • 16 Bax M, Romanov V, Junday K. et al. Arterial dissections: common features and new perspectives. Front Cardiovasc Med 2022; 9: 1055862
    CrossrefPubMedSearch in Google Scholar
  • 17 Liang F, Wang B, Geng J. et al. SORBS2 is a genetic factor contributing to cardiac malformation of 4q deletion syndrome patients. eLife 2021; 10: e67481
    CrossrefPubMedSearch in Google Scholar
  • 18 Rutman AM, Wangaryattawanich P, Aksakal M, Mossa-Basha M. Incidental vascular findings on brain magnetic resonance angiography. Br J Radiol 2023; 96 (1142) 20220135
    CrossrefPubMedSearch in Google Scholar
  • 19 Qian Q, Li M, Cai Y. et al. Analysis of the polycystins in aortic vascular smooth muscle cells. J Am Soc Nephrol 2003; 14 (09) 2280-2287
    CrossrefPubMedSearch in Google Scholar
  • 20 Kaadan MI, MacDonald C, Ponzini F. et al. Prospective cardiovascular genetics evaluation in spontaneous coronary artery dissection. Circ Genom Precis Med 2018; 11 (04) e001933
    CrossrefPubMedSearch in Google Scholar
  • 21 Yasuno K, Bilguvar K, Bijlenga P. et al. Genome-wide association study of intracranial aneurysm identifies three new risk loci. Nat Genet 2010; 42 (05) 420-425
    CrossrefPubMedSearch in Google Scholar
  • 22 Lei JJ, Li HQ, Mo ZH. et al. Long noncoding RNA CDKN2B-AS1 interacts with transcription factor BCL11A to regulate progression of cerebral infarction through mediating MAP4K1 transcription. FASEB J 2019; 33 (06) 7037-7048
    CrossrefPubMedSearch in Google Scholar
  • 23 Bakker MK, van Straten T, Chong M, Paré G, Gill D, Ruigrok YM. Anti-epileptic drug target perturbation and intracranial aneurysm risk: Mendelian randomization and colocalization study. Stroke 2023; 54 (01) 208-216
    CrossrefPubMedSearch in Google Scholar
  • 24 Lansdell TA, Fisher C, Demel S, Dorrance A. Increased HDAC9 expression is associated with decreased estrogen in female patients with intracranial aneurysm. FASEB J 2019; 33 (S1): 828-835
    CrossrefPubMedSearch in Google Scholar
  • 25 Lorenzo-Betancor O, Blackburn PR, Edwards E. et al. PCNT point mutations and familial intracranial aneurysms. Neurology 2018; 91 (23) e2170-e2181
    CrossrefPubMedSearch in Google Scholar
  • 26 Bakker MK, Ruigrok YM. Genetics of intracranial aneurysms. Stroke 2021; 52 (09) 3004-3012
    CrossrefPubMedSearch in Google Scholar
  • 27 Bell S, Tozer DJ, Markus HS. Genome-wide association study of the human brain functional connectome reveals strong vascular component underlying global network efficiency. Sci Rep 2022; 12 (01) 14938
    CrossrefPubMedSearch in Google Scholar
  • 28 Hu X, Fang Y, Li YK. et al. Role of endoglin insertion and rs1800956 polymorphisms in intracranial aneurysm susceptibility: a meta-analysis. Medicine (Baltimore) 2015; 94 (45) e1847
    CrossrefPubMedSearch in Google Scholar
  • 29 Zhou S, Ambalavanan A, Rochefort D. et al. RNF213 is associated with intracranial aneurysms in the French-Canadian population. Am J Hum Genet 2016; 99 (05) 1072-1085
    CrossrefPubMedSearch in Google Scholar
  • 30 Zafar MA, Chen JF, Wu J. et al; Yale Aortic Institute Natural History Investigators. Natural history of descending thoracic and thoracoabdominal aortic aneurysms. J Thorac Cardiovasc Surg 2021; 161 (02) 498-511.e1
    CrossrefPubMedSearch in Google Scholar
  • 31 Elefteriades JA, Farkas EA. Thoracic aortic aneurysm clinically pertinent controversies and uncertainties. J Am Coll Cardiol 2010; 55 (09) 841-857
    CrossrefPubMedSearch in Google Scholar
  • 32 Maleszewski JJ. Inflammatory ascending aortic disease: perspectives from pathology. J Thorac Cardiovasc Surg 2015; 149 (2 Suppl): S176-S183
    CrossrefPubMedSearch in Google Scholar