Background
Intracranial major artery stenosis/occlusion (ICASO) is a common cause of ischemic
stroke worldwide. A number of studies have assessed the association of the p.R4810K
polymorphism in the ring finger protein 213 (RNF213) gene with ICASO, but the results have not been entirely consistent.
Methods
We conducted a case-control study to estimate the association between the p.R4810K
polymorphism and the risk of ICASO in a Chinese population. A total of 124 patients
and 230 controls were enrolled. Moreover, a meta-analysis was performed to evaluate
this association in the East Asian populations.
Results
In our case-control study, the frequencies of the G/A genotype of p.R4810K were significantly
higher in the ICASO patients than in the control group (4.03% versus .43%, P = .021, respectively). Moreover, in the meta-analysis, we assessed 7 case-control
studies that included 1239 patients and 1377 controls. The pooled odds ratios (ORs)
indicated significant association between the p.R4810K polymorphism and the ICASO
risk in the dominant model (OR = 9.37, 95% confidence interval: 4.61-19.02, P = .000), the heterozygote comparison (OR = 8.97, 95% CI: 4.41-18.25, P = .000), and the allele comparison (OR = 9.50, 95% confidence interval: 4.71-19.19,
P = .000) in the East Asian populations. Subgroup analysis based on ethnicity revealed
that the risks in the Japanese and the Korean populations were higher than that in
the Chinese population.
Conclusions
The p.R4810K polymorphism was associated with an increased risk of ICASO in the East
Asian populations. Further studies on the function of the RNF213 protein and the clinical features of this subtype of ICASO are needed.
Key Words
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Article info
Publication history
Published online: February 23, 2018
Accepted:
January 2,
2018
Received in revised form:
December 9,
2017
Received:
October 1,
2017
Footnotes
Grant support: This study was funded by the National Science and Technology Major Projects of China (2006BAI01A13, 2015BAI12B04), the Program of the National Natural Science Foundation of China (81371292), and the Program of Capital Medical University Basic-Clinical Cooperation (17JL44).
Identification
DOI: https://doi.org/10.1016/j.jstrokecerebrovasdis.2018.01.004
Copyright
© 2018 National Stroke Association. Published by Elsevier Inc. All rights reserved.
