Genetic Polymorphisms of<i>SLC8A1</i>Are Associated with Hypertension and Left Ventricular Hypertrophy in the Korean Population

Park, Hye-Jeong; Kim, Sung‐Soo; Jin, Hyun‐Seok

doi:10.15324/kjcls.2019.51.3.286

Cited by 4 publications

(4 citation statements)

References 29 publications

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“…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.…”

Section: Discussionmentioning

confidence: 99%

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

Chu,

Qin,

2023

Preprint

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Purpose As the field of gynecological immunology increasingly focuses on reproduction, the importance of recurrent spontaneous abortion (RSA) is growing. The complex mechanisms underlying the interaction between RSA and cancer are still not well understood. This study seeks to identify a new prognostic biomarker for RSA and cancer. Methods Weighted Gene Co-Expression Network Analysis (WGCNA), single-cell RNA sequencing (scRNA-seq), and machine learning algorithms were utilized for the analysis of RSA decidua samples (GSE164449, GSE214607, GSE65099) to identify the hub gene. The expression and distribution of the hub gene were subsequently investigated using the pan-cancer database TCGA. Furthermore, a prognostic prediction was made to assess the hub gene's impact on cancer response, mutation burden, immunity microenvironment, immune checkpoint, and chemotherapy. Results SLC8A1 has been identified as a hub gene within the RAS. In pan-cancer analysis, SLC8A1 exhibited strong expression levels in UCEC. The efficacy of SLC8A1 as a predictive marker was substantiated by calibration curves and concordance index. The mutation rate of SLC8A1 was found to be 6% based on the waterfall plot. Immune analysis revealed notable differences in the fractions of T cells and macrophages between the high and low expression groups. The analysis of immune checkpoint has demonstrated notable associations with CD40positive immune checkpoints. Notably, patients classified in the low-risk group exhibited enhanced responsiveness to Osimertinib, Dasatinib, Sepantronium bromid, lbrutinib, and other treatments. Conclusion These findings suggest that SLC8A1 may serve as a promising prognostic biomarker and potential target for immunotherapy in the context of RSA and UCEC.

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Section: Discussionmentioning

confidence: 99%

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

Chu,

Qin,

2023

Preprint

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“…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.…”

Section: Methodsmentioning

confidence: 99%

“…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 ].…”

Section: Methodsmentioning

confidence: 99%

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

Park

Shin

2023

Nutrients

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Solute carrier family 35 member F3 (SLC35F3) mediates intracellular thiamine transport, which is crucial for carbohydrate metabolism as thiamine is required for key pathways such as glycolysis and the tricarboxylic acid cycle. This study aimed to investigate the impact of the interaction between SLC35F3 and dietary carbohydrate intake on the incidence of metabolic syndrome (MetS). The study included 3923 Korean adults over 40 years of age from the Korean Genome and Epidemiology Study. The association between dietary carbohydrate intake, SLC35F3 rs10910387 genotypes, and MetS incidence was studied using multivariable Cox proportional hazard models. Over an average of 8.5 years of follow-ups, we documented 1471 MetS cases. MetS incidence was 1.88 times greater in men with the TT genotype and the highest carbohydrate intake than in those with the CC genotype and lowest carbohydrate intake (Hazard Ratio (HR) 1.88, 95% confidence interval (CI) 1.03–3.41). MetS incidence were 2.22 and 2.53 times higher in women with the TT genotype and carbohydrate intake tertile 2 and 3, respectively, than those with the CC genotype and carbohydrate intake tertile 1 (HR 2.22, 95% CI 1.12–4.42; HR 2.53, 95% CI 1.38–4.61). In summary, we report a novel interaction between SLC35F3 rs10910387 genotypes and dietary carbohydrate intake on MetS in Koreans.

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“…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.…”

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

Park

Jeon

Kim

et al. 2020

BSL

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High blood pressure (HTN) is a condition in which blood pressure is kept higher than normal. Blood pressure trait measures systolic blood pressure (SBP) which is the highest pressure and diastolic blood pressure (DBP) which is the lowest blood pressure. Pulse pressure (PP) is the difference between systolic and diastolic blood pressure. Hypertension is known as a disease caused by the interaction of the environment and genetic factors. To date, studies have been conducted to find genes associated with hypertension. Genome-Wide Association Study (GWAS) analysis using European data from the UK Biobank reported new 535 loci were associated with blood pressure trait. Among them, 12 genes have been reported to have a significant correlation with SBP, DBP and PP. In the study, 12 genes polymorphisms were extracted based on KARE (Korean association resource) and then we performed linear regression of blood pressure trait. As a result, 6 SNPs of the 3 genes (rs12355413 and rs11006736 of ARMC4, rs2290883, rs2290884 and rs11039014 of LRP4, rs7234941 of BCL2) showed statistically significant correlation (P<0.05) with blood pressure trait. Of the 3 genes, 6 SNPs in 2 genes (rs9651357, rs12355413, rs11006736, rs1889522 of ARMC4 and rs4987774, rs7234941 of BCL2) showed significant correlation with hypertension. These results suggest that genetic polymorphisms of ARMC4, LRP4 and BCL2 genes are associated with blood pressure traits and hypertension in Korean population. Moreover, we expected to help understand the pathogenesis of hypertension.

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

Cited by 4 publications

References 29 publications

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

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

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

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

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