Associations between polymorphisms of the CXCL12 and CNNM2 gene and hypertension risk: A case-control study

Liu, Xianxia; Chen, Lei; Zhang, Yuansheng; Wu, Xuezheng; Zhao, Yong; Wu, Xiaoyan; Chen, Weiwei; Wu, Cengfan; Chen, Yuewu

doi:10.1016/j.gene.2018.06.107

Cited by 5 publications

(2 citation statements)

References 21 publications

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“…Knocking down Cnnm2 gene in mice results in renal magnesium wasting and abnormal neuronal development [1,2]. CNNM2 gene polymorphisms have been associated with increased risk for schizophrenia [6], hypertension, and coronary artery disease in specific ethnic groups [7].…”

Section: Introductionmentioning

confidence: 99%

The p.Pro482Ala Variant in the CNNM2 Gene Causes Severe Hypomagnesemia Amenable to Treatment with Spironolactone

Petrakis

Drosataki

Stavrakaki

et al. 2022

IJMS

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Renal hypomagnesemia syndromes involving CNNM2 protein pathogenic variants are associated with variable degrees of neurocognitive dysfunction and hypomagnesemia. Here, we report a family with a novel CNNM2 p.Pro482Ala variant, presenting with overt hypomagnesemia and mild neurological involvement (autosomal dominant renal hypomagnesemia 6, HOMG6, MIM# 613882). Using a bioinformatics approach, we showed that the p.Pro482Ala amino acid substitution causes a 3D conformational change in CNNM2 structure in the cystathionin beta synthase (CBS) domain and the carboxy-terminal protein segment. A novel finding was that aldosterone inhibition with spironolactone helped to alleviate hypomagnesemia and symptoms in the proband.

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Section: Introductionmentioning

confidence: 99%

The p.Pro482Ala Variant in the CNNM2 Gene Causes Severe Hypomagnesemia Amenable to Treatment with Spironolactone

Petrakis

Drosataki

Stavrakaki

et al. 2022

IJMS

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show abstract

“…37 Its function of balanced magnesium ions in the body was benefit for BP regulation and the decrease of CNNM2 may be associated with hypertension. 38,39 Another is serotransferrin (Tf), which involved in the iron metabolism was observed to be up-regulated in the CUMS treated group, The elevated transferrin saturation may lead to iron overload and induce the production of reactive oxygen species (ROS), which increased vascular oxidative stress and facilitate the pathogenesis of arterial hypertension. 40,41 We found that CNNM2 decreased and Tf increased under CUMS treatment, demonstrating that CUMS also disturbed metal ion homeostasis and metal ion transmembrane transporter activity and may contribute to the increasing BP.…”

Section: Discussionmentioning

confidence: 99%

The mechanism of chronic unpredictable mild stress induced high blood pressure in rats: a proteomic and targeted metabolomic analysis

Zhao

et al. 2023

Mol. Omics

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A Review of Vascular Traits and Assessment Techniques, and Their Heritability

2022

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Various tools are available to assess atherosclerosis, arterial stiffening, and endothelial function. They offer utility in the assessment of hypertensive phenotypes, in cardiovascular risk prediction, and as surrogate endpoints in clinical trials. We explore the relative influence of participant genetics, with reference to large-scale genomic studies, population-based cohorts, and candidate gene studies. We find heritability estimates highest for carotid intima-media thickness (CIMT 35–65%), followed by pulse wave velocity as a measure of arterial stiffness (26–43%), and flow mediated dilatation as a surrogate for endothelial function (14–39%); data were lacking for peripheral artery tonometry. We furthermore examine genes and polymorphisms relevant to each technique. We conclude that CIMT and pulse wave velocity dominate the existing evidence base, with fewer published genomic linkages for measures of endothelial function. We finally make recommendations regarding planning and reporting of data relating to vascular assessment techniques, particularly when genomic data are also available, to facilitate integration of these tools into cardiovascular disease research.

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Associations between polymorphisms of the CXCL12 and CNNM2 gene and hypertension risk: A case-control study

Cited by 5 publications

References 21 publications

The p.Pro482Ala Variant in the CNNM2 Gene Causes Severe Hypomagnesemia Amenable to Treatment with Spironolactone

The p.Pro482Ala Variant in the CNNM2 Gene Causes Severe Hypomagnesemia Amenable to Treatment with Spironolactone

The mechanism of chronic unpredictable mild stress induced high blood pressure in rats: a proteomic and targeted metabolomic analysis

A Review of Vascular Traits and Assessment Techniques, and Their Heritability

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