Association of Ring Finger Protein 213 Gene P.R4810k Polymorphism with Intracranial Major Artery Stenosis/Occlusion.

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  • Additional Information
    • Source:
      Publisher: Saunders Country of Publication: United States NLM ID: 9111633 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-8511 (Electronic) Linking ISSN: 10523057 NLM ISO Abbreviation: J Stroke Cerebrovasc Dis Subsets: MEDLINE
    • Publication Information:
      Publication: Philadelphia, PA : Saunders
      Original Publication: New York, NY : Demos Publications, [1991-
    • Subject Terms:
      Carotid Artery, Internal*/diagnostic imaging ; Polymorphism, Single Nucleotide*; Adenosine Triphosphatases/*genetics ; Carotid Stenosis/*genetics ; Infarction, Middle Cerebral Artery/*genetics ; Ubiquitin-Protein Ligases/*genetics; Adult ; Asian People/genetics ; Carotid Stenosis/diagnostic imaging ; Carotid Stenosis/ethnology ; Case-Control Studies ; China ; Female ; Gene Frequency ; Genetic Association Studies ; Genetic Predisposition to Disease ; Heterozygote ; Homozygote ; Humans ; Infarction, Middle Cerebral Artery/diagnostic imaging ; Infarction, Middle Cerebral Artery/ethnology ; Male ; Middle Aged ; Odds Ratio ; Phenotype ; Risk Factors
    • Abstract:
      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.
      (Copyright © 2018 National Stroke Association. Published by Elsevier Inc. All rights reserved.)
    • Contributed Indexing:
      Keywords: Intracranial major artery stenosis/occlusion; RNF213; atherosclerosis; clinical features; p.R4810K
    • Accession Number:
      EC 2.3.2.27 (RNF213 protein, human)
      EC 2.3.2.27 (Ubiquitin-Protein Ligases)
      EC 3.6.1.- (Adenosine Triphosphatases)
    • Publication Date:
      Date Created: 20180228 Date Completed: 20180827 Latest Revision: 20221207
    • Publication Date:
      20240829
    • Accession Number:
      10.1016/j.jstrokecerebrovasdis.2018.01.004
    • Accession Number:
      29482934