Genetic Polymorphisms ofSLC8A1Are Associated with Hypertension and Left Ventricular Hypertrophy in the Korean Population

Abstract

Hypertension (HTN) is one of the major chronic diseases, and HTN is defined as being in a state of continuous high blood pressure. Left ventricular hypertrophy (LVH) is a condition in which the mass of the left ventricle has increased, and HTN is a leading cause of LVH. HTN and LVH are known to be caused by the interaction of environmental factors and genetic factors. It has been reported that the polymorphisms of SLC8A1, among the genetic factors that affect high blood pressure, are related to salt sensitivity hypertension. In this study, the genetic polymorphisms of SLC8A1 were chosen based on the Korean Genome and Epidemiology data. Logistic regression analysis was then performed for HTN and LVH. Linear regression analysis was also performed for systolic blood pressure (SBP) and diastolic blood pressure (DBP). As a result, 5 SNPs showed statistically significant associations (P＜0.05) with HTN, and 10 SNPs showed statistically significant associations with LVH. rs1002671 and rs9789739 showed significant correlation at the same time with HTN and LVH. These results suggest that the polymorphisms of the SLC8A1 gene are linked to the development of HTN and LVH in Koreans. We expect these results to help us understand the pathogenic mechanisms for HTN and LVH. Candidate gene analysisHypertension Left ventricular hypertrophy SLC8A1 SNP 서 론 고혈압(hypertension, HTN)은 지속적으로 혈압이 높은 상 태를 의미하는 것으로 주요한 만성질환 중 한 가지이다. 이렇게 혈압이 높은 상태를 유지하게 되면 좌심실 비대, 가슴막 손상 기 능 장애, 승모판 역류 등을 포함한 고혈압에 의한 심장질환을 유 발하는 주요한 원인이 된다. 이러한 변화는 심방세동과 심실 부 정맥과 같은 부정맥으로 이어지며 급성심장사(sudden cardiac death, SCD)의 위험인자로도 알려져 있다[1]. 고혈압은 다양한 환경적 및 유전적 위험 인자들의 상호 작용으로 발생하는 질환 으로 잘 알려져 있는데, 환경적인 요인뿐만 아니라 고혈압에 영 향을 미치는 유전적 요인에 대한 연구도 활발하게 진행되고 있 다[2-4]. 특히 일반적인 고혈압에 비하여 염분에 대해 민감하게 증가하는 고혈압(salt sensitive hypertension)은 심혈관 질환 발병의 증가와 생존율 감소와 관련이 있는 것으로 밝혀졌다[5]. 좌심실 비대(left ventricular hypertrophy, LVH)는 심근세 Korean J Clin Lab Sci. 2019;51(3):286-293

SLC8A1, a novel prognostic biomarker and immunotherapy target in RSA and UCEC based on scRNA-seq and pan-cancer analysis

“…For instance, the deletion of the SLC8A1 gene or the presence of null mutations has been found to result in arrhythmia [40]. Furthermore, SLC8A1 plays a signi cant role in the pathogenesis of hypertension [41]. Additionally, SLC8A1 has been implicated in the development of diabetes and certain cancers, where it exhibits a reverse function.…”

Effects of Interaction between SLC35F3 and Carbohydrate Intake on the Incidence of Metabolic Syndrome in Korean Middle-Aged Adults

“…Affymetrix Genome-Wide Human SNP Array 5.0 (Affymetrix, Santa Clara, CA, USA) was used to genotype DNA samples. The exclusion criteria from analysis were as follows: genotype reading accuracy of less than 98%, high rates of missed genotype calls (4% or more), heterozygosity greater than 30%; or gender mismatch [ 22 , 23 , 24 ]. After genotyping, a GWAS was performed to select SNPs related to MetS.…”

“…Hypo HDL-cholesterolemia was defined as HDL cholesterol levels of <40 mg/dL for men and 50 mg/dL for women [ 2 ]. Triglyceride, HDL-C, and fasting blood glucose levels were assessed using ADVIA 1650 [ 24 ].…”

Genetic Polymorphisms ofARMC4, LRP4andBCL2Genes are Associated with Blood Pressure Traits and Hypertension in Korean Population

“…특히 ARMC4 유전자는 심 장 질환과의 연관을 조사한 연구들이 많이 존재하고 있 지 않으므로, 실험을 통하여 ARMC4와 심장 질환과의 연 관성을 확인한다면 더욱 확실한 연구가 될 것이다. 현재까지 다양한 질환의 발병과 환경적 및 유전적 요 인과의 상관관계에 대한 연구들이 진행되어 왔으며(Lee et al, 2018;Jeon and Jin, 2019;Lim et al, 2019) 고혈압에 관 련된 유전적 요인에 대한 연구들도 진행되어 왔다(Fowdar et al, 2017; Ko and Jin, 2019;Park et al, 2019). 본 연구에서 는 한국인 유전체 역학 자료를 기반으로 ARMC4, LRP4 그리고 BCL2 유전자의 유전적 변이들과 고혈압 및 혈압 수치와의 상관성을 분석하여 유의한 상관관계를 확인하 였다.…”