Park Jeong Jin, Kim Bong Jun, Youn Dong Hyuk, Choi Hyuk Jai, Jeon Jin Pyeong
Department of Neurology, Konkuk University Medical Center, Seoul, Korea.
Institute of New Frontier Research, Hallym University College of Medicine, Chuncheon, Korea.
J Korean Neurosurg Soc. 2020 Sep;63(5):559-565. doi: 10.3340/jkns.2019.0225. Epub 2020 May 8.
Conflicting results regarding SOX17 genes and the risk of intracranial aneurysms (IA) exist in the Korean population, although significant positive correlations were noted in genome-wide association studies in European and Japanese populations. Therefore, we aimed to investigate an association between SOX17 gene variants and IA using exome sequencing data.
This study included 26 age-gender matched IA patients and 26 control subjects. The SOX17 gene variants identified from whole-exome sequencing data were examined. Genetic associations to estimate odds ratio (OR) and 95% confidence interval (CI) were performed using the software EPACTS.
The mean age of the IA and control groups were 51.0±9.3 years and 49.4±14.3 years, respectively (p=0.623). Seven variants of SOX17, including six single nucleotide polymorphisms and one insertion and deletion, were observed. Among these variants, rs12544958 (A>G) showed the most association with IA, but the association was not statistically significant (OR, 1.97; 95% CI, 0.81-4.74; p=0.125). Minor allele frequencies of the IA patients and controls were 0.788 and 0.653, respectively. None of the remaining variants were significantly associated with IA formation.
No significant association between SOX17 gene variants and IA were noted in the Korean population. A large-scale exome sequencing study is necessary to investigate any Korean-specific genetic susceptibility to IA.
在韩国人群中，关于SOX17基因与颅内动脉瘤（IA）风险的研究结果存在冲突，尽管在欧洲和日本人群的全基因组关联研究中发现了显著的正相关。因此，我们旨在利用外显子组测序数据研究SOX17基因变异与IA之间的关联。
本研究纳入了26例年龄和性别匹配的IA患者及26例对照受试者。对从全外显子组测序数据中鉴定出的SOX17基因变异进行检测。使用软件EPACTS进行遗传关联分析，以估计比值比（OR）和95%置信区间（CI）。
IA组和对照组的平均年龄分别为51.0±9.3岁和49.4±14.3岁（p=0.623）。观察到SOX17的7种变异，包括6个单核苷酸多态性和1个插入缺失。在这些变异中，rs12544958（A>G）与IA的关联最为显著，但该关联无统计学意义（OR，1.97；95%CI，0.81-4.74；p=0.125）。IA患者和对照组的次要等位基因频率分别为0.788和0.653。其余变异均与IA形成无显著关联。
在韩国人群中，未发现SOX17基因变异与IA之间存在显著关联。有必要开展大规模外显子组测序研究，以调查韩国人群中IA的特定遗传易感性。
