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Association of genetic variants of RNF213 with ischemic stroke risk in Koreans

Genes & Genomics 2021년 43권 4호 p.389 ~ 397
박영석, 박현우, 박한성, Ryu Chang-Soo, 이정용, 고은주, 성정훈, 김진권, 김옥준, 김남근,
소속 상세정보
박영석 ( Park Young-Seok ) - Chungbuk National University College of Medicine Chungbuk National University Hospital Department of Neurosurgery
박현우 ( Park Hyeon-Woo ) - CHA University College of Life Science Department of Biomedical Science
박한성 ( Park Han-Sung ) - CHA University College of Life Science Department of Biomedical Science
 ( Ryu Chang-Soo ) - CHA University College of Life Science Department of Biomedical Science
이정용 ( Lee Jeong-Yong ) - CHA University College of Life Science Department of Biomedical Science
고은주 ( Ko Eun-Ju ) - CHA University College of Life Science Department of Biomedical Science
성정훈 ( Sung Jung-Hoon ) - CHA University School of Medicine CHA Bundang Medical Center Department of Cardiology
김진권 ( Kim Jin-Kwon ) - CHA University School of Medicine CHA Bundang Medical Center Department of Neurology
김옥준 ( Kim Ok-Joon ) - CHA University School of Medicine CHA Bundang Medical Center Department of Neurology
김남근 ( Kim Nam-Keun ) - CHA University College of Life Science Department of Biomedical Science

Abstract


Background: Large artery disease (LAD), cardioembolism (CE), and small vessel disease (SVD) are well-established causes of ischemic stroke. Although a founder variant of RNF213 has been regarded a genetic susceptibility for Moyamoya disease (MMD) and certain types of intracranial atherosclerotic stenosis (ICAS), correlations between RNF213 variants and ischemic stroke with SVD remain largely unknown.

Objectives: This study aimed to characterize the associations of four RNF213 polymorphisms (4448G>A, 4810G>A, 4863G>A, and 4950G>A) with ischemic stroke subtypes in Koreans.

Methods: Genetic data from 529 stroke patients were analyzed and compared to 424 age- and sex-matched controls. Genetic variants of RNF213, as obtained from the Human Gene Mutation Database, were analyzed in the study subjects using the polymerase chain reaction restriction fragment length polymorphism assay. We investigated four single-nucleotide polymorphisms of RNF213 to elucidate their association with ischemic stroke [LAD, (n?=?192), SVD (n?=?145) and CE (n?=?51)].

Results: The RNF213 4950G>A genotype was observed more frequently in cerebral stroke patients and was more strongly associated with SVD than LAD (P?=?0.014). RNF213 4448/4950 in combination with G?A was higher in SVD patients. However, the RNF213 4863/4950 allele combination was associated with increased risk of SVD and LAD. These results confirmed that RNF213 4950GA+AA variants were more frequent in ischemic stroke, especially in SVD, and that RNF213 G?G?G?A and G?G?G?A (4448/4810/4863/4950) haplotype sequences play a role in LAD and CE as well as SVD.

Conclusions: Our data reported that the RNF213 4950G>A genotypes and several RNF213 (4448/4810/4863/4950) haplotypes were associated with ischemic stroke in Koreans.

키워드

Stroke; Genetic; Small vessel disease; Ischemic stroke; RNF213

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