Department of Biomedical Science, College of Life Science, CHA University, Seongnam, Gyeonggi 13488, Republic of Korea.
Department of Neurology, CHA Bundang Medical Center, School of Medicine, CHA University, Seongnam, Gyeonggi 13496, Republic of Korea.
Mol Med Rep. 2020 Apr;21(4):1973-1983. doi: 10.3892/mmr.2020.10975. Epub 2020 Feb 5.
Silent brain infarction (SBI) is a cerebral infarction identified through brain imaging. In particular, studies have shown that the presence of SBI in elderly patients increases their risk of cognitive dysfunction, impairment and dementia. However, little research has been published on the relevance of SBI to these risks for the Korean population. The association between potassium voltage‑gated channel subfamily Q member 2 (KCNQ2), transcription factor 4 (TCF4) and regulator of G‑protein signaling 18 (RGS18) genotypes and SBI were investigated using whole‑exome sequencing and PCR restriction fragment length polymorphism (RFLP) analysis. The study population included 407 patients with SBI (171 males) and 401 control subjects (172 males). Genotyping was performed using PCR RFLP. Interestingly, TCF4 rs9957668T>C polymorphisms were associated with SBI prevalence [TT vs. CC: adjusted odds ratio (AOR), 1.815, 95% confidence intervals (CI), 1.202‑2.740; TT vs. TC+CC: AOR, 1.492, 95% CI, 1.066‑2.088; TT+TC vs. CC: AOR, 1.454, 95% CI, 1.045‑2.203]. The combination of KCNQ2 rs73146513A>G and TCF4 rs9957668T>C genotypes was associated with increasing SBI prevalence (AG/CC: AOR, 3.719, 95% CI, 1.766‑7.833; AA/CC: AOR, 3.201, 95% CI, 1.387‑7.387). The present study showed that TCF4 rs9957668T>C polymorphisms may be risk factors for SBI. Therefore, the TCF4 rs9957668T>C polymorphism may serve as a biomarker for increased risk of SBI in the Korean population.
无症状性脑梗死（SBI）是一种通过脑部影像学检查确定的脑梗死。特别是，研究表明，老年患者 SBI 的存在会增加其认知功能障碍、损伤和痴呆的风险。然而，针对韩国人群，关于 SBI 与这些风险之间的相关性的研究甚少。本研究通过全外显子组测序和聚合酶链反应限制片段长度多态性（PCR-RFLP）分析，探讨钾电压门控通道亚家族 Q 成员 2（KCNQ2）、转录因子 4（TCF4）和 G 蛋白信号调节因子 18（RGS18）基因型与 SBI 的关系。研究人群包括 407 例 SBI 患者（171 例男性）和 401 例对照受试者（172 例男性）。采用 PCR-RFLP 进行基因分型。有趣的是，TCF4 rs9957668T>C 多态性与 SBI 患病率相关[TT 与 CC：调整后的优势比（AOR），1.815，95%置信区间（CI），1.202-2.740；TT 与 TC+CC：AOR，1.492，95%CI，1.066-2.088；TT+TC 与 CC：AOR，1.454，95%CI，1.045-2.203]。KCNQ2 rs73146513A>G 和 TCF4 rs9957668T>C 基因型的组合与 SBI 患病率的增加相关（AG/CC：AOR，3.719，95%CI，1.766-7.833；AA/CC：AOR，3.201，95%CI，1.387-7.387）。本研究表明，TCF4 rs9957668T>C 多态性可能是 SBI 的危险因素。因此，TCF4 rs9957668T>C 多态性可能成为韩国人群 SBI 风险增加的生物标志物。
