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Association Between p.R4810K Variant and Long-Term Clinical Outcome in Patients With Moyamoya Disease

Objective: To estimate the association between p. R4810K variant and clinical outcomes of patients with moyamoya disease (MMD). Methods: The p.R4810K genetic variant was genotyped among 498 Chinese patients with MMD conducted from June 1, 2012, to June 31, 2017. Data was obtained by retrospective ch...

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Autores principales: Ge, Peicong, Ye, Xun, Liu, Xingju, Deng, Xiaofeng, Wang, Rong, Zhang, Yan, Zhang, Dong, Zhang, Qian, Zhao, Jizong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6603092/
https://www.ncbi.nlm.nih.gov/pubmed/31293503
http://dx.doi.org/10.3389/fneur.2019.00662
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author Ge, Peicong
Ye, Xun
Liu, Xingju
Deng, Xiaofeng
Wang, Rong
Zhang, Yan
Zhang, Dong
Zhang, Qian
Zhao, Jizong
author_facet Ge, Peicong
Ye, Xun
Liu, Xingju
Deng, Xiaofeng
Wang, Rong
Zhang, Yan
Zhang, Dong
Zhang, Qian
Zhao, Jizong
author_sort Ge, Peicong
collection PubMed
description Objective: To estimate the association between p. R4810K variant and clinical outcomes of patients with moyamoya disease (MMD). Methods: The p.R4810K genetic variant was genotyped among 498 Chinese patients with MMD conducted from June 1, 2012, to June 31, 2017. Data was obtained by retrospective chart review, follow-up information and outcome were obtained through clinical visits and telephone. Results: Among 498 patients, 361 (72.5%) were wild-type patients (G/G), 133 (26.7%) heterozygous patients (G/A), and 4 (0.8%) homozygotes (A/A). Compared with GG group, the patients in the G/A+A/A group were younger at diagnosis and had more familial cases, more transient ischemic attack cases, more posterior cerebral artery involved hemispheres, less unilateral lesions. After the median 53 months follow-up, strokes occurred in 9 patients in the G/A+A/A group and in 52 in the G/G group. Multivariate Cox regression analysis showed that the history of hypertension (HR, 2.294; 95% CI, 1.251–4.206; p = 0.007), the presence of TIA (HR, 0.319; 95% CI, 0.120–0.846; p = 0.022), and the Suzuki stage (HR, 1.510; 95% CI, 1.129–2.018; p = 0.005) were associated with recurrent stroke. The p.R4810K (HR, 0.601; 95% CI, 0.292–1.239; p = 0.168) was not associated with recurrent stroke. Multivariate logistic regression analysis showed that recurrent stroke (OR, 5.997; 95% CI, 2.583–13.924; p = 0.000) was the only factor associated with unfavorable neurological status. And the p.R4810K (OR, 0.885; 95% CI, 0.482–1.627; p = 0.695) was not associated with neurological status. Conclusions: Compared to the patients in G/G group, patients in G/A+A/A group exhibited different clinical features, and had a lower rate of recurrent stroke and better clinical outcome after early medical and surgical interventions. Multivariate COX and logistic regression analysis showed that p.R4810Kvariant was not related to either recurrent stroke or neurological status. The p.R4810Kvariant may not be associated with long-term clinical outcome in Chinese patients with MMD.
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spelling pubmed-66030922019-07-10 Association Between p.R4810K Variant and Long-Term Clinical Outcome in Patients With Moyamoya Disease Ge, Peicong Ye, Xun Liu, Xingju Deng, Xiaofeng Wang, Rong Zhang, Yan Zhang, Dong Zhang, Qian Zhao, Jizong Front Neurol Neurology Objective: To estimate the association between p. R4810K variant and clinical outcomes of patients with moyamoya disease (MMD). Methods: The p.R4810K genetic variant was genotyped among 498 Chinese patients with MMD conducted from June 1, 2012, to June 31, 2017. Data was obtained by retrospective chart review, follow-up information and outcome were obtained through clinical visits and telephone. Results: Among 498 patients, 361 (72.5%) were wild-type patients (G/G), 133 (26.7%) heterozygous patients (G/A), and 4 (0.8%) homozygotes (A/A). Compared with GG group, the patients in the G/A+A/A group were younger at diagnosis and had more familial cases, more transient ischemic attack cases, more posterior cerebral artery involved hemispheres, less unilateral lesions. After the median 53 months follow-up, strokes occurred in 9 patients in the G/A+A/A group and in 52 in the G/G group. Multivariate Cox regression analysis showed that the history of hypertension (HR, 2.294; 95% CI, 1.251–4.206; p = 0.007), the presence of TIA (HR, 0.319; 95% CI, 0.120–0.846; p = 0.022), and the Suzuki stage (HR, 1.510; 95% CI, 1.129–2.018; p = 0.005) were associated with recurrent stroke. The p.R4810K (HR, 0.601; 95% CI, 0.292–1.239; p = 0.168) was not associated with recurrent stroke. Multivariate logistic regression analysis showed that recurrent stroke (OR, 5.997; 95% CI, 2.583–13.924; p = 0.000) was the only factor associated with unfavorable neurological status. And the p.R4810K (OR, 0.885; 95% CI, 0.482–1.627; p = 0.695) was not associated with neurological status. Conclusions: Compared to the patients in G/G group, patients in G/A+A/A group exhibited different clinical features, and had a lower rate of recurrent stroke and better clinical outcome after early medical and surgical interventions. Multivariate COX and logistic regression analysis showed that p.R4810Kvariant was not related to either recurrent stroke or neurological status. The p.R4810Kvariant may not be associated with long-term clinical outcome in Chinese patients with MMD. Frontiers Media S.A. 2019-06-25 /pmc/articles/PMC6603092/ /pubmed/31293503 http://dx.doi.org/10.3389/fneur.2019.00662 Text en Copyright © 2019 Ge, Ye, Liu, Deng, Wang, Zhang, Zhang, Zhang and Zhao. http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Neurology
Ge, Peicong
Ye, Xun
Liu, Xingju
Deng, Xiaofeng
Wang, Rong
Zhang, Yan
Zhang, Dong
Zhang, Qian
Zhao, Jizong
Association Between p.R4810K Variant and Long-Term Clinical Outcome in Patients With Moyamoya Disease
title Association Between p.R4810K Variant and Long-Term Clinical Outcome in Patients With Moyamoya Disease
title_full Association Between p.R4810K Variant and Long-Term Clinical Outcome in Patients With Moyamoya Disease
title_fullStr Association Between p.R4810K Variant and Long-Term Clinical Outcome in Patients With Moyamoya Disease
title_full_unstemmed Association Between p.R4810K Variant and Long-Term Clinical Outcome in Patients With Moyamoya Disease
title_short Association Between p.R4810K Variant and Long-Term Clinical Outcome in Patients With Moyamoya Disease
title_sort association between p.r4810k variant and long-term clinical outcome in patients with moyamoya disease
topic Neurology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6603092/
https://www.ncbi.nlm.nih.gov/pubmed/31293503
http://dx.doi.org/10.3389/fneur.2019.00662
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