Association between KCNQ2, TCF4 and RGS18 polymorphisms and silent brain infarction based on whole‑exome sequencing.

Abstract

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 subfamilyQ member2 (KCNQ2), transcription factor4 (TCF4) and regulator of G‑protein signaling18 (RGS18) genotypes and SBI were investigated using whole‑exome sequencing and PCR restriction fragment length polymorphism (RFLP) analysis. The study population included 407patients with SBI (171males) and 401control subjects (172males). Genotyping was performed using PCR RFLP. Interestingly, TCF4 rs9957668T>C polymorphisms were associated with SBI prevalence [TTvs.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+TCvs.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.