Distribution of Intracranial Major Artery Stenosis/Occlusion According to RNF213 Polymorphisms

oleh: Jinkwon Kim, Young Seok Park, Min-Hee Woo, Hui Jeong An, Jung Oh Kim, Han Sung Park, Chang Soo Ryu, Ok Joon Kim, Nam Keun Kim

Format: Article
Diterbitkan: MDPI AG 2020-03-01

Deskripsi

Intracranial major artery stenosis/occlusion (ICASO) is the major cause of ischemic stroke. Recent studies have suggested that variants of <i>RNF213</i>, a susceptibility gene for moyamoya disease (MMD), are also related to non-MMD ICASO. Regarding the predominant involvement of steno-occlusion on anterior circulation in MMD, we hypothesized that the ICASO distribution pattern (anterior/posterior) in non-MMD may differ according to <i>RNF213</i> variants. This study analyzed 1024 consecutive Korean subjects without MMD who underwent computed tomography angiography (CTA) or magnetic resonance angiography (MRA). We evaluated four single nucleotide polymorphisms (SNPs) in the exon region of <i>RNF213</i>: 4448G &gt; A (rs148731719), 4810G &gt; A (rs112735431), 4863G &gt; A (rs760732823), and 4950G &gt; A (rs371441113). Associations between <i>RNF213</i> variants and anterior/posterior ICASO were examined using multivariate logistic regression analysis. Anterior ICASO was present in 23.0% of study subjects, and posterior ICASO was present in 8.2%. The GA genotype of <i>RNF213</i> 4810G &gt; A (adjusted odds ratio (AOR) [95% confidence interval (CI)], 2.39 [1.14&#8722;4.87] compared to GG; <i>p</i> = 0.018) and GA genotype of <i>RNF213</i> 4950G &gt; A (AOR [95% CI], 1.71 [1.11&#8722;2.63] compared to GG; <i>p</i> = 0.015) were more frequent in subjects with anterior ICASO. The genotype frequency of <i>RNF213</i> 4863G &gt; A differed significantly according to the presence of posterior ICASO. Further investigations of the functional and biological roles of <i>RNF213</i> will improve our understanding of the pathomechanisms of ICASO and cerebrovascular disease.