胸主动脉瘤/动脉夹层的基因遗传学研究进展
Advances in Genetic Research of Thoracic Aortic Aneurysm/Arterial Dissection
DOI: 10.12677/ACM.2022.1291257, PDF,    科研立项经费支持
作者: 朱文雅：济宁医学院临床医学院，山东 济宁；左汉恒*：济宁医学院附属医院心内CCU，山东 济宁
关键词: 主动脉夹层；致病基因；综合征性；非综合征性；Aortic Dissection； Pathogenic Gene； Syndrome； Non-Syndrome
摘要: 胸主动脉瘤/动脉夹层是一种急性、致命性的大血管疾病，若未能及时有效治疗，死亡率和致残率极高，因此其发生机制的研究非常重要。目前大量研究证明，胸主动脉瘤/动脉夹层有明确的遗传学基础，本文通过分析近年来中外文献进一步对综合征性、非综合征性胸主动脉瘤/动脉夹层相关基因及其作用机制作一综述，为临床诊断和研究提供新的参考思路和展望。
Abstract: Thoracic aortic aneurysm/arterial dissection is an acute and fatal macrovascular disease. If it is not treated in time and effectively, the mortality and disability rate are very high, so the study of its mechanism is very important. At present, a large number of studies have proved that thoracic aor-tic aneurysm/arterial dissection has a clear genetic basis. Through the analysis of Chinese and for-eign literature in recent years, this paper further reviews the genes related to syndromic and non-syndromic thoracic aortic aneurysm/arterial dissection and their mechanism, so as to provide new reference ideas and prospects for clinical diagnosis and research.
文章引用：朱文雅, 左汉恒. 胸主动脉瘤/动脉夹层的基因遗传学研究进展[J]. 临床医学进展, 2022, 12(9): 8713-8719. https://doi.org/10.12677/ACM.2022.1291257

参考文献

[1] Renard, M., Francis, C., Ghosh, R., et al. (2018) Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection. Journal of the American College of Cardiology, 72, 605-615. [Google Scholar] [CrossRef] [PubMed]
[2] Disabella, E., Grasso, M., Gambarin, F.I., et al. (2011) Risk of Dissection in Thoracic Aneurysms Associated with Mutations of Smooth Muscle Alpha-Actin 2 (ACTA2). Heart, 97, 321-326. [Google Scholar] [CrossRef] [PubMed]
[3] Isselbacher, E.M., Lino, C.C. and Lindsay, M.E. (2016) Hereditary Influence in Thoracic Aortic Aneurysm and Dissection. Circulation, 133, 2516-2528. [Google Scholar] [CrossRef] 
[4] Mariscalco, G., Debiec, R., Elefteriades, J.A., et al. (2018) Systematic Review of Studies That Have Evaluated Screening Tests in Relatives of Patients Affected by Nonsyn-dromic Thoracic Aortic Disease. Journal of the American Heart Association, 7, e9302. [Google Scholar] [CrossRef] 
[5] Takeda, N. and Komuro, I. (2019) Genetic Basis of Hereditary Thoracic Aortic Aneurysms and Dissections. Journal of Cardiology, 74, 136-143. [Google Scholar] [CrossRef] [PubMed]
[6] Rigelsky, C.M. and Moran, R.T. (2019) Genetics of Syndromic and Nonsyndromic Aortopathies. Current Opinion in Pediatrics, 31, 694-701. [Google Scholar] [CrossRef] 
[7] Jonszta, T., Prochazka, V., Czerny, D., et al. (2008) Detec-tion of Dural Ectasia in Diagnosis of Marfan’s Syndrome. Vasa, 37, 364-370. [Google Scholar] [CrossRef] [PubMed]
[8] Loeys, B.L., Dietz, H.C., Braverman, A.C., et al. (2010) The Re-vised Ghent Nosology for the Marfan Syndrome. Journal of Medical Genetics, 47, 476-485. [Google Scholar] [CrossRef] [PubMed]
[9] Meester, J., Verstraeten, A., Schepers, D., et al. (2017) Differences in Manifestations of Marfan Syndrome, Ehlers-Danlos Syndrome, and Loeys-Dietz Syndrome. Annals of Cardiothoracic Surgery, 6, 582-594. [Google Scholar] [CrossRef] [PubMed]
[10] Takeda, N., Hara, H., Fujiwara, T., et al. (2018) TGF-Beta Signal-ing-Related Genes and Thoracic Aortic Aneurysms and Dissections. International Journal of Molecular Sciences, 19, Article No. 2125. [Google Scholar] [CrossRef] [PubMed]
[11] Benke, K., Agg, B., Szilveszter, B., et al. (2013) The Role of Trans-forming Growth Factor-Beta in Marfan Syndrome. Cardiology Journal, 20, 227-234. [Google Scholar] [CrossRef] 
[12] Wang, J., Yan, Y., Chen, J., et al. (2016) Novel FBN1 Mutations Are Responsible for Cardiovascular Manifestations of Marfan Syndrome. Molecular Biology Reports, 43, 1227-1232. [Google Scholar] [CrossRef] [PubMed]
[13] Loeys, B.L. and Dietz, H.C. (1993) Loeys-Dietz Syn-drome.
[14] Goldfinger, J.Z., Halperin, J.L., Marin, M.L., et al. (2014) Thoracic Aortic Aneurysm and Dissection. Journal of the American College of Cardiology, 64, 1725-1739. [Google Scholar] [CrossRef] [PubMed]
[15] MacCarrick, G., Black, J.R., Bowdin, S., et al. (2014) Loeys-Dietz Syndrome: A Primer for Diagnosis and Management. Genetics in Medicine, 16, 576-587. [Google Scholar] [CrossRef] [PubMed]
[16] Schepers, D., Tortora, G., Morisaki, H., et al. (2018) A Mutation Update on the LDS-Associated Genes TGFB2/3 and SMAD2/3. Human Mutation, 39, 621-634. [Google Scholar] [CrossRef] [PubMed]
[17] Chumachenko, P.V., Postnov, A.Y., Ivanova, A.G., et al. (2020) Tho-racic Aortic Aneurysm and Factors Affecting Aortic Dissection. Journal of Personalized Medicine, 10, Article No. 153. [Google Scholar] [CrossRef] [PubMed]
[18] Schwarze, U., Schievink, W.I., Petty, E., et al. (2001) Haploinsuffi-ciency for One COL3A1 Allele of Type III Procollagen Results in a Phenotype Similar to the Vascular form of Eh-lers-Danlos Syndrome, Ehlers-Danlos Syndrome Type IV. The American Journal of Human Genetics, 69, 989-1001. [Google Scholar] [CrossRef] [PubMed]
[19] De Paepe, A. and Malfait, F. (2012) The Ehlers-Danlos Syndrome, a Disorder with Many Faces. Clinical Genetics, 82, 1-11. [Google Scholar] [CrossRef] [PubMed]
[20] D’Hondt, S., Van Damme, T. and Malfait, F. (2018) Vascular Phenotypes in Nonvascular Subtypes of the Ehlers-Danlos Syndrome: A Systematic Review. Genetics in Medicine, 20, 562-573. [Google Scholar] [CrossRef] [PubMed]
[21] Bari, A., Sa-daqat, N., Nawaz, N., et al. (2019) Shprintzen-Goldberg Syndrome: A Rare Disorder. Journal of College of Physicians and Surgeons Pakistan, 29, S41-S42. [Google Scholar] [CrossRef] 
[22] Gravholt, C.H., Viuff, M.H., Brun, S., et al. (2019) Turner Syndrome: Mechanisms and Management. Nature Reviews Endocrinology, 15, 601-614. [Google Scholar] [CrossRef] [PubMed]
[23] McBride, O.W., Fisher, L.W. and Young, M.F. (1990) Localization of PGI (biglycan, BGN) and PGII (decorin, DCN, PG-40) Genes on Human Chromosomes Xq13-qter and 12q, Respectively. Genomics, 6, 219-225. [Google Scholar] [CrossRef] 
[24] Meester, J.A.N., et al. (2017) Loss-of-Function Mutations in the X-Linked Biglycan Gene Cause a Severe Syndromic Form of Thoracic Aortic Aneurysms and Dissections. Genetics in Medicine, 19, 386-395. [Google Scholar] [CrossRef] [PubMed]
[25] Jelsig, A.M., Urban, Z., Hucthagowder, V., et al. (2017) Novel ELN Mutation in a Family with Supravalvular Aortic Stenosis and Intracranial Aneurysm. The European Journal of Medical Genetics, 60, 110-113.
[26] Meester, J.A.N., Vandeweyer, G., Pintelon, I., et al. (2017) Loss-of-Function Mu-tations in the X-Linked Biglycan Gene Cause a Severe Syndromic Form of Thoracic Aortic Aneurysms and Dissections. Genetics in Medicine, 19, 386-395. [Google Scholar] [CrossRef] [PubMed]
[27] van der Linde, D., Verhagen, H.J., Moelker, A., et al. (2013) Aneu-rysm-Osteoarthritis Syndrome with Visceral and Iliac Artery Aneurysms. Journal of Vascular Surgery, 57, 96-102. [Google Scholar] [CrossRef] [PubMed]
[28] Arroyave, J., Carretero, J.M. and Gruosso, D. (2018) Isolated Aortic Dilation without Osteoarthritis: A Case of SMAD3 Mutation. Cardiology in the Young, 28, 765-767. [Google Scholar] [CrossRef] 
[29] van der Kraan, P.M., Blaney, D.E. and van den Berg, W.B. (2010) A Role for Age-Related Changes in TGFbeta Signaling in Aberrant Chondrocyte Differentiation and Osteoarthri-tis. Arthritis Research & Therapy, 12, Article No. 201. [Google Scholar] [CrossRef] [PubMed]
[30] Engstrom, K., Vanky, F., Rehnberg, M., et al. (2020) Novel SMAD3 p.Arg386Thr Genetic Variant Co-Segregating with Thoracic Aortic Aneurysm and Dissection. Molecular Genetics & Genomic Medicine, 8, e1089. [Google Scholar] [CrossRef] [PubMed]
[31] Beyens, A., Albuisson, J., Boel, A., et al. (2018) Arterial Tortuosity Syn-drome: 40 New Families and Literature Review. Genetics in Medicine, 20, 1236-1245. [Google Scholar] [CrossRef] [PubMed]
[32] Wessels, M.W., Catsman-Berrevoets, C.E., Mancini, G.M., et al. (2004) Three New Families with Arterial Tortuosity Syndrome. American Journal of Medical Genetics Part A, 131, 134-143. [Google Scholar] [CrossRef] [PubMed]
[33] Boel, A., Veszelyi, K., Nemeth, C.E., et al. (2019) Arterial Tortuosity Syndrome: An Ascorbate Compartmentalization Disorder? Antioxidants & Redox Signaling, 34, 875-889.
[34] Milewicz, D.M. and Regalado, E. (1993) Heritable Thoracic Aortic Disease Overview.
[35] Tan, K.L., Haelterman, N.A., Kwartler, C.S., et al. (2018) Ari-1 Regulates Myonuclear Organization Together with Parkin and Is Associated with Aortic Aneu-rysms. Developmental Cell, 45, 226-244. [Google Scholar] [CrossRef] [PubMed]
[36] Regalado, E.S., Guo, D.C., Santos-Cortez, R.L., et al. (2016) Pathogenic FBN1 Variants in Familial Thoracic Aortic Aneurysms and Dissections. Clinical Genetics, 89, 719-723. [Google Scholar] [CrossRef] [PubMed]
[37] Rohde, S., Zafar, M.A., Ziganshin, B.A., et al. (2020) Thoracic Aortic An-eurysm Gene Dictionary. Asian Cardiovascular and Thoracic Annals, 29, 682-696. [Google Scholar] [CrossRef] [PubMed]
[38] Ostberg, N.P., Zafar, M.A., Ziganshin, B.A., et al. (2020) The Genetics of Thoracic Aortic Aneurysms and Dissection: A Clinical Perspective. Biomolecules, 10, Article No. 182. [Google Scholar] [CrossRef] [PubMed]
[39] Freeze, S.L., Landis, B.J., Ware, S.M., et al. (2016) Bicuspid Aortic Valve: A Review with Recommendations for Genetic Counseling. Journal of Genetic Counseling, 25, 1171-1178. [Google Scholar] [CrossRef] [PubMed]
[40] Weerakkody, R., Ross, D., Parry, D.A., et al. (2018) Targeted Genetic Analysis in a Large Cohort of Familial and Sporadic Cases of Aneurysm or Dissection of the Thoracic Aorta. Genetics in Medicine, 20, 1414-1422. [Google Scholar] [CrossRef] [PubMed]
[41] Pinard, A., Jones, G.T. and Milewicz, D.M. (2019) Genetics of Thoracic and Abdominal Aortic Diseases. Circulation Research, 124, 588-606. [Google Scholar] [CrossRef] 

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