Association analysis of MTHFR (rs1801133 and rs1801131) and MTRR (rs1801394) gene polymorphisms towards the development of hypertension in the Bai population from Yunnan, China

Liu, Yongxin; Xu, Chunyan; Wang, Yuqing; Yang, Caiting; Gong, Pan; Zhang, Le; Wang, Zhuang; Peng, Tao; Hu, Shenghe; Lai, Mingming

doi:10.1080/10641963.2023.2206066

Cited by 6 publications

(3 citation statements)

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“…In this research, we enrolled 72 patients from the Bai ethnic group to investigate the impact of CYP2D6 polymorphisms on the efficacy of ARB medications in hypertension treatment. While previous studies have explored CYP2D6 variants in healthy Bai individuals [ 26 ] and the MTHFR gene’s role in hypertension susceptibility [ 27 ], our study is the first to assess the effect of CYP2D6 polymorphisms on ARB response in Bai hypertensive patients.…”

Section: Discussionmentioning

confidence: 99%

Exploring CYP2D6 polymorphisms and angiotensin receptor blocker response in the Bai hypertensive population

Yang,

Zhang,

Shu

et al. 2024

Pharmacogenetics and Genomics

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Objective The CYP2D6 enzyme is crucial for the metabolism and disposition of a variety of drugs. This study was conducted to examine the relationship between CYP2D6 gene polymorphisms and the response to angiotensin receptor blocker (ARB)-based treatment in patients of Chinese Bai ethnicity with hypertension. Methods Seventy-two hypertensive adults from the Chinese Bai ethnic group, exhibiting systolic blood pressure (SBP) ≥ 140 mmHg or diastolic blood pressure (DBP) ≥ 90 mmHg, were recruited. Targeted regional sequencing was utilized to genotype single nucleotide polymorphisms in the CYP2D6 gene, aiming to assess their frequency and to evaluate their influence on the therapeutic efficacy of ARB medications. Results Our research identified nine significant CYP2D6 polymorphisms associated with the efficacy of ARB treatment in the Bai hypertensive cohort. Specifically, patients possessing certain mutant genotype at rs111564371 exhibited substantially greater reductions in SBP and DBP, with P-values of 0.021 and 0.016, respectively, compared to those carrying the wild genotype. Additionally, these mutant genotype at rs111564371 and rs112568578 were linked to approximately 20% higher overall efficacy rates and a 10% increased achievement rate relative to the wild genotype. Conclusion Our research with the Bai hypertensive group shows that certain CYP2D6 polymorphisms significantly influence ARB treatment outcomes. Mutations at rs111564371 led to better blood pressure control (P-values: 0.021 for SBP, 0.016 for DBP), improving ARB efficacy by appromixately 20% and increasing treatment goal achievement by 10% over the wild-type genotype. Statements Our investigation into CYP2D6 polymorphisms within the Bai hypertensive cohort marks a substantial advancement towards personalized healthcare, underscoring the pivotal influence of genetic constitution on the effectiveness of ARB therapy.

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Section: Discussionmentioning

confidence: 99%

Exploring CYP2D6 polymorphisms and angiotensin receptor blocker response in the Bai hypertensive population

Yang,

Zhang,

Shu

et al. 2024

Pharmacogenetics and Genomics

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“…Furthermore, a high-sodium diet may impede the absorption of folate and B-complex vitamins, resulting in an abnormal elevation of plasma Hcy levels, thereby promoting the occurrence of H-type hypertension [ 19 , 20 ]. High plasma Hcy interacts with disorders of lipid metabolism and may play a synergistic and facilitative role in causing vascular endothelial damage and subsequent hypertension [ 21 ].…”

Section: Discussionmentioning

confidence: 99%

Analysis of MTHFR C677T genotype and related factors in H-type hypertension in Tibet, China

Yan,

Zhang,

Zhou

et al. 2024

BMC Cardiovasc Disord

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Background and aims H-type hypertension is essential hypertension combined with high homocysteine, and both synergistically increase the risk of cardiovascular and cerebrovascular events. The aim of this study was to investigate the risk factors of H-type hypertension in Tibetan plateau population and correlation with MTHFR C677T gene. Methods and results A multi-stage cluster random sampling method was used to select the research subjects in Tibet Autonomous Region from June 2020 to November 2021. Among Tibetans, the incidence of H-type hypertension accounted for 84.31% of hypertensive patients. The logistic regression analysis demonstrated that age, uric acid (UA), triglyceride (TG) and low-density lipoprotein cholesterol (LDL-C) were risk factors for the prevalence of H-type hypertension, the OR (95% CI) was 1.083(1.073–1.094), 1.002(1.001–1.004), 1.240(1.050–1.464) and 2.274(1.432–3.611), respectively. MTHFR C677T TT genotype patients with H-type hypertension OR (95% CI) was 1.629(1.004–2.643). Based on this, a nomogram model was established, and the reliability of the model was proved by area under ROC curve, Brier score and average absolute error. The model’s results indicate that for every five years of age, the score increases by 6 points; for a 2mmol/L increase in TG, the score increases by 5.5 points; for a 1mmol/L increase in LDL-C, the score increases by 10 points; and individuals with the TT genotype receive 8 points. The higher the score, the greater the risk of disease. Conclusion The MTHFR C677T TT genotype is a risk locus for Tibetan patients with H-type hypertension, with age, TG, and LDL-C were identified as risk factors for the disease.

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“…So far, only about 10% of the hypertension etiology is known (20). Some known risk determinants of hypertension include SNP, DNA methylation, alcohol drinking, cigarette smoking, inactive lifestyle, sex, body mass index (BMI), and age (20)(21)(22)(23)(24)(25)(26)(27). Genome-wide association studies -GWAS-(28-31) and subsequent studies including meta-analyses (26, 27, [32][33][34] have identified several hypertension-related single nucleotide polymorphisms (SNPs).…”

Section: Introductionmentioning

confidence: 99%

Susceptibility to hypertension based on MTHFR rs1801133 single nucleotide polymorphism and MTHFR promoter methylation

Chiu,

Chang,

Tantoh

et al. 2023

Front. Cardiovasc. Med.

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BackgroundThe aetio-pathologenesis of hypertension is multifactorial, encompassing genetic, epigenetic, and environmental factors. The combined effect of genetic and epigenetic changes on hypertension is not known. We evaluated the independent and interactive association of MTHFR rs1801133 single nucleotide polymorphism (SNP) and MTHFR promoter methylation with hypertension among Taiwanese adults.MethodsWe retrieved data including, MTHFR promoter methylation, MTHFR rs1801133 genotypes (CC, CT, and TT), basic demography, personal lifestyle habits, and disease history of 1,238 individuals from the Taiwan Biobank (TWB).ResultsThe distributions of hypertension and MTHFR promoter methylation quartiles (β < 0.1338, 0.1338 ≤ β < 0.1385, 0.1385 ≤ β < 0.1423, and β ≥ 0.1423 corresponding to <Q1, Q1–Q2, Q2–Q3, and ≥Q3) among individuals with the rs1801133 genotypes (CC, CT, and TT) were significantly different (P < 0.05). The risk of hypertension was significantly higher among individuals with the TT genotype compared to the reference genotype (CC): odds ratio (OR); 95% confidence interval (CI) = 2.718; 1.503–4.914. The trend of the association of the CT and TT genotypes with hypertension was dose-dependent (P-trend = 0.0041). MTHFR promoter methylation (lower quartiles compared to ≥Q3) was not significantly associated with hypertension. However, its interaction with MTHFR rs1801133 was significant (P = 0.0323). After stratification by rs1801133 genotypes, lower MTHFR promoter methylation quartiles (<Q1, Q1–Q2, Q2–Q3) compared to ≥Q3 were significantly associated with a higher risk of hypertension among individuals carrying the CC genotype: ORs (95% CIs) = 3.225 (1.140–9.124), 4.177 (1.424–12.247), and 8.645 (2.513–29.739) for Q2–Q3, Q1–Q2, and <Q1, respectively. The trend test was significant (P-trend = 0.0009).ConclusionIndependently, rs1801133 TT was associated with a higher risk of hypertension, but methylation was not. Based on genotypes, lower methylation was dose-dependently associated with a higher risk of hypertension in individuals with the CC genotype. Our findings suggest that MTHFR rs1801133 and MTHFR promoter methylation could jointly influence hypertension susceptibility.

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Association analysis of MTHFR (rs1801133 and rs1801131) and MTRR (rs1801394) gene polymorphisms towards the development of hypertension in the Bai population from Yunnan, China

Cited by 6 publications

References 40 publications

Exploring CYP2D6 polymorphisms and angiotensin receptor blocker response in the Bai hypertensive population

Exploring CYP2D6 polymorphisms and angiotensin receptor blocker response in the Bai hypertensive population

Analysis of MTHFR C677T genotype and related factors in H-type hypertension in Tibet, China

Susceptibility to hypertension based on MTHFR rs1801133 single nucleotide polymorphism and MTHFR promoter methylation

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