In:
Stroke, Ovid Technologies (Wolters Kluwer Health), Vol. 44, No. 10 ( 2013-10), p. 2894-2897
Abstract:
Recently, we reported a common genetic variant, ring finger protein 213 ( RNF213 ) c.14576G 〉 A variant, a susceptibility gene for moyamoya disease (MMD), among patients with intracranial major artery stenosis/occlusion (ICASO) in a selected Japanese population. The aim of this 2-center–based case–control study was to confirm our previous finding in a larger population. Methods— Study participants were recruited from The University of Tokyo Hospital and Kanto Neurosurgical Hospital. The occurrence rate of c.14576G 〉 A variant was investigated in 323 patients, 22 with definite MMD, 8 with unilateral MMD, 84 with ICASO in the absence of MMD (non-MMD ICASO), 34 with extracranial carotid atherosclerosis, 44 with cerebral aneurysm, 21 with intracerebral hemorrhage, and 110 control subjects. Results— RNF213 c.14576G 〉 A variant was found in 1.8% (2/110) of the normal control group and had significant associations with definite MMD ( P 〈 0.0001; odds ratio, 144.0; 95% confidence interval, 26.7–775.9), unilateral MMD ( P =0.0001; odds ratio, 54.0; 95% confidence interval, 7.5–386.8), and non-MMD ICASO ( P 〈 0.0001; odds ratio, 16.8; 95% confidence interval, 3.81–74.5). There was no significant association with extracranial carotid atherosclerosis, cerebral aneurysm, or intracerebral hemorrhage. This result replicated our previous findings. Conclusions— A particular subset of patients with various phenotypes of ICASO has a common genetic variant, RNF213 c.14576G 〉 A, indicating that RNF213 c.14576G 〉 A variant is a high-risk allele for ICASO.
Type of Medium:
Online Resource
ISSN:
0039-2499
,
1524-4628
DOI:
10.1161/STROKEAHA.113.002477
Language:
English
Publisher:
Ovid Technologies (Wolters Kluwer Health)
Publication Date:
2013
detail.hit.zdb_id:
1467823-8
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