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논문 기본 정보

자료유형
학술저널
저자정보
Young Seok Park (Chungbuk National University Hospital) Hyeon Woo Park (CHA University) Han Sung Park (CHA University) Chang Soo Ryu (CHA University) Jeong Yong Lee (CHA University) Eun Ju Ko (CHA University) Jung Hoon Sung (CHA University School of Medicine) Jinkwon Kim (CHA University School of Medicine) Ok Joon Kim (CHA University School of Medicine) Nam Keun Kim (CHA University)
저널정보
한국유전학회 Genes & Genomics Genes & Genomics Vol.43 No.4
발행연도
2021.1
수록면
389 - 397 (9page)

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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.
#Stroke · Genetic · Small vessel disease · Ischemic stroke · RNF213

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참고문헌 (23)

참고문헌 신청
Adams HP Jr / 1993 / Classifcation of subtype of acute ischemic stroke. Defnitions for use in a multicenter clinical trial. TOAST. Trial of Org 10172 in Acute Stroke Treatment / Stroke 24:35~41 google schola Alamowitch S / 2009 / Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome / Neurology 73:1873~1882 google schola Baba T / 2008 / Novel epidemiological features of moyamoya disease / J Neurol Neurosurg Psychiatry 79:900~904 google schola Bang OY / 2015 / Adult Moyamoya disease: a burden of intracranial stenosis in East Asians? / PLoS One 10:e0130663 google schola Caplan LR / 1986 / Race, sex and occlusive cerebrovascular disease : a review / Stroke 17:648~655 google schola

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