A variante genética c825t da subunidade β3 da proteína G associa‐se com a hipertensão arterial numa população portuguesa

Silva, Célia Regina Sousa da; Reis, Roberto Palma dos; Pereira, Andreia; Borges, S; Gouveia, Sara; Spínola, Adelaide; Freitas, Ana Isabel; Guerra, G; Góis, Teresa; Rodrigues, M; Henriques, E; Ornelas, I; Freitas, Carolina; Pereira, Décio; Brehm, António; Mendonça, Maria Isabel

doi:10.1016/j.repc.2017.09.018

Cited by 5 publications

(1 citation statement)

References 38 publications

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“…Beyond the role of GNB3 pathogenic variants in the etiology of CSNB1H, [8] Siffert and colleagues [78], described the c.825C>T (rs5443) polymorphism in exon 10 of the gene as linked to the expression of a shortened splice variant, Gβ 3 s, whose translated protein is characterized by the deletion of 41 amino acids, responsible of enhanced G-proteins signal transduction [78]. The c.825C>T polymorphism is associated with an increased risk of hypertension [78][79][80][81], obesity [59,82], diabetes [83], metabolic syndrome component [84,85], depression [86,87], seasonal variations in mood and behaviors [88], functional dyspepsia [89,90], stroke [91,92], arrhythmia [93], coronary artery disease [94,95], and other cardiovascular phenotypes [96][97][98][99]. In addition, duplication and overexpression of GNB3 gene is responsible for a syndromic form of childhood obesity [59,100].…”

Section: G Protein Subunit Beta 3 (Gnb3 Gβ 3 )mentioning

confidence: 99%

The Emerging Role of Gβ Subunits in Human Genetic Diseases

Malerba

Nittis

Merla

2019

Cells

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Environmental stimuli are perceived and transduced inside the cell through the activation of signaling pathways. One common type of cell signaling transduction network is initiated by G-proteins. G-proteins are activated by G-protein-coupled receptors (GPCRs) and transmit signals from hormones, neurotransmitters, and other signaling factors, thus controlling a number of biological processes that include synaptic transmission, visual photoreception, hormone and growth factors release, regulation of cell contraction and migration, as well as cell growth and differentiation. G-proteins mainly act as heterotrimeric complexes, composed of alpha, beta, and gamma subunits. In the last few years, whole exome sequencing and biochemical studies have shown causality of disease-causing variants in genes encoding G-proteins and human genetic diseases. This review focuses on the G-protein β subunits and their emerging role in the etiology of genetically inherited rare diseases in humans.

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Section: G Protein Subunit Beta 3 (Gnb3 Gβ 3 )mentioning

confidence: 99%

The Emerging Role of Gβ Subunits in Human Genetic Diseases

Malerba

Nittis

Merla

2019

Cells

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Meta‐analysis of the genetic association between maternal GNB3 C825T polymorphism and risk of pre‐eclampsia

Song

Huang

Zhou

et al. 2021

Intl J Gynecology & Obste

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Background The relationship between the C825T polymorphism of GNB3 (encoding G‐protein β3 subunit) and pre‐eclampsia risk is unclear. Objective To systematically explore the association between GNB3 C825T and pre‐eclampsia. Search strategy PubMed, EMBASE, Google Scholar, and Chinese National Knowledge Infrastructure (CNKI) databases were searched to September 1, 2020, using keywords including “GNB3 C825T” and “pre‐eclampsia”. Selection criteria Case–control and cohort studies investigating the relationship between GNB3 C825T polymorphism and pre‐eclampsia were included. Data collection and analysis Two reviewers collected the data independently and calculate odds ratios (ORs) with 95% confidence intervals (CIs). Main results The meta‐analysis involved eight studies from seven publications, including 2071 cases and 3419 controls. Overall analysis showed that GNB3 C825T was associated with increased pre‐eclampsia risk in the recessive model (OR, 1.21; 95% CI, 1.01–1.44; P = 0.04). Subgroup analysis stratified by Hardy–Weinberg equilibrium revealed a relationship between GNB3 C825T and increased risk of pre‐eclampsia in the allelic (OR, 1.66; 95% CI, 1.34–2.05; P < 0.001), homozygous (OR, 2.12, 95% CI, 1.04–4.32; P = 0.04), dominant (OR, 1.91; 95% CI, 1.18–3.11; P = 0.009), and recessive (OR, 1.70; 95% CI, 1.03–2.81; P = 0.04) models. Conclusions Maternal GNB3 C825T polymorphism seems to be a risk factor for pre‐eclampsia.

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Genetic predisposition for essential hypertension, based on studies of genetic polymorphisms in modern global human populations: The perspective of evolutionary biology

Bicho

2018

Revista Portuguesa de Cardiologia

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A variante genética c825t da subunidade β3 da proteína G associa‐se com a hipertensão arterial numa população portuguesa

Abstract: We conclude that the C825T polymorphism of the beta 3 subunit of G protein is significantly and independently associated with the occurrence of hypertension in the study population.

Cited by 5 publications

References 38 publications

The Emerging Role of Gβ Subunits in Human Genetic Diseases

The Emerging Role of Gβ Subunits in Human Genetic Diseases

Meta‐analysis of the genetic association between maternal GNB3 C825T polymorphism and risk of pre‐eclampsia

Genetic predisposition for essential hypertension, based on studies of genetic polymorphisms in modern global human populations: The perspective of evolutionary biology

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