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Genetic analysis of RNF213 p.R4810K variant in non-moyamoya intracranial artery stenosis/occlusion disease in a Chinese population

Overview of attention for article published in Environmental Health and Preventive Medicine, April 2017
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Title
Genetic analysis of RNF213 p.R4810K variant in non-moyamoya intracranial artery stenosis/occlusion disease in a Chinese population
Published in
Environmental Health and Preventive Medicine, April 2017
DOI 10.1186/s12199-017-0649-0
Pubmed ID
Authors

Tong Zhang, Congrong Guo, Xin Liao, Jian Xia, XiaoXiao Wang, Jing Deng, Junxia Yan

Abstract

RNF213 p.R4810K was identified as a susceptibility variant for moyamoya disease in Asia and non-moyamoya intracranial artery stenosis/occlusion disease in Japan and Korea recently. The occurrence of this variant was evaluated in patients with non-moyamoya intracranial artery stenosis/occlusion disease in China. Two study populations were used in this study. One was recruited from the Second Hospital of Hebei Medical University from April 2015 to May 2016. The other was the archived DNA samples of intracranial artery stenosis/occlusion patients in XiangYa Hospital collected in 2014. The occurrence of RNF213 p.R4810K was investigated in a total of 715 patients with non-moyamoya intracranial artery stenosis/occlusion disease. The carrier rate of RNF213 p.R4810K in 507 normal individuals was used as control. Six of 715 patients (0.84%) with non-moyamoya intracranial artery stenosis/occlusion disease and 2 of the 507 normal controls (0.39%) had RNF213 p.R4810K variant. The carrier rate of RNF213 p.R4810K was higher in non-moyamoya intracranial artery stenosis/occlusion group than that in the normal group. However, no statistically significant association was observed (Odds ratio, 2.14; 95% confidence interval, 0.43-10.63; p = 0.56). The carrier rate of RNF213 p.R4810K in Chinese non-moyamoya intracranial artery stenosis/occlusion disease patients was significantly lower than that in Korea or Japan. Genetic heterogeneity was highly indicated. Further systematic genetic epidemiology studies with emphasis on Chinese-specific genetic variants and environmental risk factors of intracranial artery stenosis/occlusion disease in larger population are needed.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 15 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 15 100%

Demographic breakdown

Readers by professional status Count As %
Student > Bachelor 2 13%
Student > Ph. D. Student 2 13%
Other 1 7%
Student > Doctoral Student 1 7%
Student > Master 1 7%
Other 2 13%
Unknown 6 40%
Readers by discipline Count As %
Medicine and Dentistry 3 20%
Biochemistry, Genetics and Molecular Biology 2 13%
Neuroscience 2 13%
Engineering 1 7%
Unknown 7 47%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 23 November 2017.
All research outputs
#20,452,930
of 23,008,860 outputs
Outputs from Environmental Health and Preventive Medicine
#423
of 490 outputs
Outputs of similar age
#269,460
of 309,783 outputs
Outputs of similar age from Environmental Health and Preventive Medicine
#20
of 22 outputs
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