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Genomic Variations in Susceptibility to Intracranial Aneurysm in the Korean Population

Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA
Institute of New Frontier Stroke Research, Hallym University College of Medicine, Chuncheon 24252, Korea
Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA
Department of Neurosurgery, Hallym University College of Medicine, Chuncheon 24252, Korea
Genetic and Research, Chuncheon 25252, Korea
Author to whom correspondence should be addressed.
J. Clin. Med. 2019, 8(2), 275;
Received: 18 January 2019 / Revised: 16 February 2019 / Accepted: 21 February 2019 / Published: 25 February 2019
(This article belongs to the Section Neuroscience)
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Genome-wide association studies found genetic variations with modulatory effects for intracranial aneurysm (IA) formations in European and Japanese populations. We aimed to identify the susceptibility of single nucleotide polymorphisms (SNPs) to IA in a Korean population consisting of 250 patients, and 294 controls using the Asian-specific Axiom Precision Medicine Research Array. Twenty-nine SNPs reached a genome-wide significance threshold (5 × 10−8). The rs371331393 SNP, with a stop-gain function of ARHGAP32 (11q24.3), showed the most significant association with the risk of IA (OR = 43.57, 95% CI: 21.84–86.95; p = 9.3 × 10−27). Eight out of 29 SNPs—GBA (rs75822236), TCF24 (rs112859779), OLFML2A (rs79134766), ARHGAP32 (rs371331393), CD163L1 (rs138525217), CUL4A (rs74115822), LOC102724084 (rs75861150), and LRRC3 (rs116969723)—demonstrated sufficient statistical power greater than or equal to 0.8. Two previously reported SNPs, rs700651 (BOLL, 2q33.1) and rs6841581 (EDNRA, 4q31.22), were validated in our GWAS (Genome-wide association study). In a subsequent analysis, three SNPs showed a significant difference in expressions: the rs6741819 (RNF144A, 2p25.1) was down-regulated in the adrenal gland tissue (p = 1.5 × 10−6), the rs1052270 (TMOD1. 9q22.33) was up-regulated in the testis tissue (p = 8.6 × 10−10), and rs6841581 (EDNRA, 4q31.22) was up-regulated in both the esophagus (p = 5.2 × 10−12) and skin tissues (1.2 × 10−6). Our GWAS showed novel candidate genes with Korean-specific variations in IA formations. Large population based studies are thus warranted. View Full-Text
Keywords: subarachnoid hemorrhage; delayed cerebral ischemia; genetics subarachnoid hemorrhage; delayed cerebral ischemia; genetics

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Hong, E.P.; Kim, B.J.; Cho, S.S.; Yang, J.S.; Choi, H.J.; Kang, S.H.; Jeon, J.P. Genomic Variations in Susceptibility to Intracranial Aneurysm in the Korean Population. J. Clin. Med. 2019, 8, 275.

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