Hypertension genetics past, present and future applications

Olczak, Kaya J.; Taylor-Bateman, Victoria; Nicholls, Hannah; Traylor, Matthew; Cabrera, Claudia; Munroe, Patricia B.

doi:10.1111/joim.13352

Cited by 36 publications

(38 citation statements)

References 128 publications

(198 reference statements)

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“…However, the use of endothelin receptor antagonists has not been shown to be beneficial in the heart failure population, with some studies demonstrating worse outcomes when used in patients with left heart failure [ 39 , 40 ]. Studies are ongoing evaluating other components of the endothelin signaling pathway as potential novel therapies in cardiovascular disease [ 41 , 42 ]. Recently, Leary and colleagues revealed that elevated ET-1 levels may be associated with a more favorable cardiovascular outcome, suggesting that the role of ET-1 is still not well defined [ 43 ].…”

Section: Discussionmentioning

confidence: 99%

Upregulation of Endothelin-1 May Predict Chemotherapy-Induced Cardiotoxicity in Women with Breast Cancer

Krishnarao

Bruno

Florio

et al. 2022

JCM

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As survival in breast cancer patients from newer therapies increases, concerns for chemotherapy-induced cardiotoxicity (CIC) have offset some of these benefits, manifesting as a decline in left ventricular ejection fraction (LVEF). Patients receiving anthracycline-based chemotherapy followed by trastuzumab are at risk for CIC. Previous research evaluating whether clinical biomarkers predict cardiotoxicity has been inconsistent. Recently, angiotensin II type 1 receptor (ATR1) and endothelin 1 (ET1) have been shown to play a role in breast tumor growth. We evaluated ATR1 and ET1 expression in breast cancer tissue and its association with CIC. A total of 33 paraffin-embedded breast tissue specimens from women with breast cancer treated with anthracycline-based chemotherapy and trastuzumab were analyzed by immunohistochemistry (IHC) and qRT-PCR. We found that ET1 expression was increased in patients with an LVEF ≤ 50% (p = 0.032) with a lower LVEF correlating with higher ET1 expression (r = 0.377, p = 0.031). In patients with a change in LVEF of greater than 10%, greater ET1 expression was noted compared to those without a change in LVEF (p = 0.017). Increased ET1 expression in breast tumor tissue is associated with reduced LVEF. Future studies need to examine whether ET1 may be a tissue biomarker that helps predict the risk of developing CIC in women with breast cancer.

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Section: Discussionmentioning

confidence: 99%

Upregulation of Endothelin-1 May Predict Chemotherapy-Induced Cardiotoxicity in Women with Breast Cancer

Krishnarao

Bruno

Florio

et al. 2022

JCM

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Section: Introductionmentioning

confidence: 99%

“…Large genome-wide association studies (GWAS) have identified >2,000 genetic variants associated with different BP components , reflecting the high heritability of BP. [21][22][23][24][25][26][27] However, most of the previous GWAS have been largely restricted to individuals of European ancestry, with limited data from Chinese and other East Asian ancestry populations, in which the genetic architecture, environmental exposures, and healthcare provision for treatment of high BP may differ substantially from those in Western populations. Moreover, most of the previous genetic studies have focused on SBP and DBP and, hence, relatively little is known about the genetic determinants of other BP traits including PP and MAP and their causal relevance for CVD.…”

Section: Introductionmentioning

confidence: 99%

Causal relevance of different blood pressure traits on risk of cardiovascular diseases: GWAS and Mendelian randomisation in 100,000 Chinese adults

Pozarickij

Gan

Lin

et al. 2023

Preprint

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Elevated blood pressure (BP) is major risk factor for cardiovascular diseases (CVD). Genome-wide association studies (GWAS) conducted predominantly in populations of European ancestry have identified >2,000 BP-associated loci, but other ancestries have been less well-studied. We conducted GWAS of systolic, diastolic, pulse, and mean arterial BP in 100,453 Chinese adults. We identified 128 non-overlapping loci associated with one or more BP traits, harbouring 81 novel associations. Despite strong genetic correlations between populations, we identified appreciably higher heritability and larger variant effect sizes in Chinese compared with European or Japanese ancestry populations. Using instruments derived from these GWAS, multivariable Mendelian randomisation demonstrated strong causal associations of specific BP traits with CVD, including systolic BP with intracranial haemorrhage, and pulse pressure with carotid plaque. The findings reinforce the need for studies in diverse populations to understand the genetic determinants of BP traits and their role in disease risk.

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“…Even so, conflicting results have been obtained, particularly among African population studies (Al-Kordy et al, 2012;Nassereddine et al, 2015;Amrani-Midoun et al, 2016;Ghogomu et al, 2016). Thus, several authors have emphasized the need to conduct more African studies to further validate the role of MTHFR polymorphisms in the pathogenesis of HTN (Amrani-Midoun et al, 2016;Ghogomu et al, 2016;Olczak et al, 2021).…”

Section: Introductionmentioning

confidence: 99%

The association of MTHFR (rs1801133) with hypertension in an indigenous south African population

et al. 2022

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Aims: The current study sought to investigate the association between the methylenetetrahydrofolate reductase (MTHFR) variant (rs1801133) and the risk of developing hypertension (HTN) in an indigenous South African population.Methods: A total of 442 participants (hypertensive, n = 279 and non-hypertensive, n = 163) from the indigenous tribe residing in Mthatha, Eastern Cape (South Africa) were recruited. HTN was defined as a systolic (SBP) and diastolic blood pressure (DBP) of ≥130/80 mmHg following American Heart Association guidelines. The genotyping of MTHFR (rs1801133) was assessed using MassARRAY® System. Thereafter, the association between rs1801133 in various genetic models and HTN was determined by logistic regression model analysis. Furthermore, the interaction between rs1801133 and selected risk factors on HTN was performed using the open-source multifactor dimensionality reduction (MDR).Results: The low frequency of the T allele (5%) was also observed when compared with the C allele (95%) in both cases and controls. After adjusting for confounding factors (gender, smoking status, BMI, and blood glucose levels), there were no significant associations were observed between rs1801133 and the risk of HTN in all genetic models: genotypic (OR 0.75, 95% CI 0.29–1.95, p = 0.56), dominant (OR 0.86, 95% CI 0.35–2.16, p = 0.75), co-dominant (OR 1.33, 95% CI 0.51–3.48, p = 0.55) and allelic (OR 0.80, 95% CI 0.49–1.62, p = 0.70) in logistic regression analysis. However, a significant interaction was reported among rs1801133, age, and gender (p < 0.0001) with the risk of HTN.Conclusion: The present study reports on the lack of association between MTHFR (rs1801133) and the risk of HTN in an indigenous South African tribe. However, an interaction between gender, age, and rs1801133 was observed. Thus, future studies with a large sample size are required to further validate these findings.

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Hypertension genetics past, present and future applications

Abstract: sion genetics past, present and future applications.

Cited by 36 publications

References 128 publications

Upregulation of Endothelin-1 May Predict Chemotherapy-Induced Cardiotoxicity in Women with Breast Cancer

Upregulation of Endothelin-1 May Predict Chemotherapy-Induced Cardiotoxicity in Women with Breast Cancer

Causal relevance of different blood pressure traits on risk of cardiovascular diseases: GWAS and Mendelian randomisation in 100,000 Chinese adults

The association of MTHFR (rs1801133) with hypertension in an indigenous south African population

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