Clinical Usefulness of Genetic Testing For Patients with Moyamoya Disease: A Systematic Review

被引:1
作者
Shlobin, Nathan A. [1 ]
Hoffman, Steven C. [1 ]
Clark, Jeffrey R. [1 ]
Du, Rebecca Y. [1 ]
Lam, Sandi [1 ]
机构
[1] Northwestern Univ, Dept Neurol Surg, Feinberg Sch Med, Div Pediat Neurosurg,Lurie Childrens Hosp, Chicago, IL 60611 USA
关键词
Cerebrovascular accident; Cerebrovascular disorders; Genetics; Moyamoya disease; Stroke; RNF213; POLYMORPHISM; ASSOCIATION; FEATURES; VARIANT;
D O I
10.1016/j.wneu.2021.05.130
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
-BACKGROUND: The effect of genetic factors on presentation and outcomes of moyamoya disease (MMD) is unclear. We aimed to examine differences in presentation of MMD by genetic variant, delineate the influence of genetic factors on outcomes, and characterize the applicability of genetic testing to management. - METHODS: A systematic review was conducted using the PubMed, Embase, and Scopus databases. Title/abstract screening, full-text screening, and data extraction were conducted. -RESULTS: Of 1329 articles, 12 were included. Genes included RNF213 (ring finger protein 213), VEGF (vascular endothelial growth factor), and soluble VEGR receptor (sVEGFR) 1 and 2. Patients heterozygous and homozygous for the p.R1480K variant of RNF213 had younger age of onset; were more frequently familial, had posterior cerebral artery involvement, had bilateral lesions; and were more likely to present with cerebral infarction or transient ischemic attack. The heterozygous p.4810K variant is associated with improved postoperative collateral formation. Stroke recurrence, stroke-free survival, neurologic status, and functional condition after surgery are not associated with the p.4180K genotype. Patients homozygous for p.4180K more frequently experience long-term cognitive impairment. Patients with the C/C genotype of VEGF 2634 or decreased sVEGFR-1 and sVEGFR levels postoperatively had greater postoperative collateral formation. -CONCLUSIONS: Genetic factors correlate with MMD presentation including age of onset, severity, and symptoms, and angiographic and clinical outcomes after surgery. Incorporation of genetic testing panels into practice may allow for risk stratification, management, and follow-up of children and adults with MMD. However, future studies are necessary to validate the usefulness of genetic testing for MMD before this situation occurs.
引用
收藏
页码:198 / +
页数:9
相关论文
共 33 条
[1]   Surgical Management of Moyamoya Disease [J].
Acker, Gueliz ;
Fekonja, Lucius ;
Vajkoczy, Peter .
STROKE, 2018, 49 (02) :476-482
[2]   Novel epidemiological features of moyamoya disease [J].
Baba, T. ;
Houkin, K. ;
Kuroda, S. .
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2008, 79 (08) :900-904
[3]  
Cook T. D., 2002, EXPT QUASIEXPERIMENT, V1195
[4]   Revascularisation surgery for paediatric moyamoya: a review of the literature [J].
Fung, LWE ;
Thompson, D ;
Ganesan, V .
CHILDS NERVOUS SYSTEM, 2005, 21 (05) :358-364
[5]   Association between p.R4810K Variant and Postoperative Collateral Formation in Patients with Moyamoya Disease [J].
Ge, Peicong ;
Ye, Xun ;
Liu, Xingju ;
Deng, Xiaofeng ;
Wang, Jia ;
Wang, Rong ;
Zhang, Yan ;
Zhang, Dong ;
Zhang, Qian ;
Zhao, Jizong .
CEREBROVASCULAR DISEASES, 2019, 48 (1-2) :77-84
[6]   Association Between p.R4810K Variant and Long-Term Clinical Outcome in Patients With Moyamoya Disease [J].
Ge, Peicong ;
Ye, Xun ;
Liu, Xingju ;
Deng, Xiaofeng ;
Wang, Rong ;
Zhang, Yan ;
Zhang, Dong ;
Zhang, Qian ;
Zhao, Jizong .
FRONTIERS IN NEUROLOGY, 2019, 10
[7]   Mutations in Smooth Muscle Alpha-Actin (ACTA2) Cause Coronary Artery Disease, Stroke, and Moyamoya Disease, Along with Thoracic Aortic Disease [J].
Guo, Dong-Chuan ;
Papke, Christina L. ;
Tran-Fadulu, Van ;
Regalado, Ellen S. ;
Avidan, Nili ;
Johnson, Ralph Jay ;
Kim, Dong H. ;
Pannu, Hariyadarshi ;
Willing, Marcia C. ;
Sparks, Elizabeth ;
Pyeritz, Reed E. ;
Singh, Michael N. ;
Dalman, Ronald L. ;
Grotta, James C. ;
Marian, Ali J. ;
Boerwinkle, Eric A. ;
Frazier, Lorraine Q. ;
LeMaire, Scott A. ;
Coselli, Joseph S. ;
Estrera, Anthony L. ;
Safi, Hazim J. ;
Veeraraghavan, Sudha ;
Muzny, Donna M. ;
Wheeler, David A. ;
Willerson, James T. ;
Yu, Robert K. ;
Shete, Sanjay S. ;
Scherer, Steven E. ;
Raman, C. S. ;
Buja, L. Maximilian ;
Milewicz, Dianna M. .
AMERICAN JOURNAL OF HUMAN GENETICS, 2009, 84 (05) :617-627
[8]   Associations of Moyamoya patients with HLA class I and class II alleles in the Korean population [J].
Han, H ;
Pyo, CW ;
Yoo, DS ;
Huh, PW ;
Cho, KS ;
Kim, DS .
JOURNAL OF KOREAN MEDICAL SCIENCE, 2003, 18 (06) :876-880
[9]   Expression of circulating vascular endothelial growth factor-antagonizing cytokines and vascular stabilizing factors prior to and following bypass surgery in patients with moyamoya disease [J].
He, Jin ;
Wang, Rong ;
Zhang, Dong ;
Zhang, Yan ;
Zhang, Qian ;
Zhao, Jizong .
EXPERIMENTAL AND THERAPEUTIC MEDICINE, 2014, 8 (01) :302-308
[10]   Downregulation of Securin by the variant RNF213 R4810K (rs112735431, G>A) reduces angiogenic activity of induced pluripotent stem cell-derived vascular endothelial cells from moyamoya patients [J].
Hitomi, Toshiaki ;
Habu, Toshiyuki ;
Kobayashi, Hatasu ;
Okuda, Hiroko ;
Harada, Kouji H. ;
Osafune, Kenji ;
Taura, Daisuke ;
Sone, Masakatsu ;
Asaka, Isao ;
Ameku, Tomonaga ;
Watanabe, Akira ;
Kasahara, Tomoko ;
Sudo, Tomomi ;
Shiota, Fumihiko ;
Hashikata, Hirokuni ;
Takagi, Yasushi ;
Morito, Daisuke ;
Miyamoto, Susumu ;
Nakao, Kazuwa ;
Koizumi, Akio .
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 2013, 438 (01) :13-19