Genomic Variations in Susceptibility to Intracranial Aneurysm in the Korean Population
作者： Eun Pyo Hong , Bong Jun Kim , Steve S Cho , Jin Seo Yang , Hyuk Jai Choi
DOI: 10.3390/JCM8020275
关键词:
摘要: 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) IA a Korean population consisting 250 patients, 294 controls using Asian-specific Axiom Precision Medicine Research Array. Twenty-nine SNPs reached genome-wide significance threshold (5 × 10−8). The rs371331393 SNP, stop-gain function ARHGAP32 (11q24.3), showed most significant risk (OR = 43.57, 95% CI: 21.84–86.95; p 9.3 10−27). Eight out 29 SNPs—GBA (rs75822236), TCF24 (rs112859779), OLFML2A (rs79134766), (rs371331393), CD163L1 (rs138525217), CUL4A (rs74115822), LOC102724084 (rs75861150), LRRC3 (rs116969723)—demonstrated sufficient statistical power greater than or equal 0.8. Two previously reported SNPs, rs700651 (BOLL, 2q33.1) rs6841581 (EDNRA, 4q31.22), were validated our GWAS (Genome-wide study). In subsequent analysis, three difference expressions: rs6741819 (RNF144A, 2p25.1) was down-regulated adrenal gland tissue (p 1.5 10−6), rs1052270 (TMOD1. 9q22.33) up-regulated testis 8.6 10−10), 4q31.22) both esophagus 5.2 10−12) skin tissues (1.2 10−6). Our novel candidate genes Korean-specific formations. Large based are thus warranted.
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