Association of CT Dinucleotide Repeat Polymorphism in the 5'-Flanking Region of the Guanylyl Cyclase (GC)-A Gene with Essential Hypertension in the Japanese

Usami, Satoru; Kishimoto, Ichiro; Saito, Yoshihiko; Hara, Masaki; Kuwahara, Koichiro; Nakagawa, Yasuaki; Nakanishi, Masayoshi; Yasuno, Shinji; Kangawa, Kenji; Nakao, Kazuwa

doi:10.1291/hypres.31.89

Cited by 14 publications

(16 citation statements)

References 22 publications

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“…The finding that NPR-C is overexpressed in adipocytes of obese individuals allowed an explanation for these reduced CNH levels in obese subjects (15,78). Moreover, some gene polymorphisms of specific natriuretic peptide receptors have associated with some cardiovascular diseases, including systemic arterial hypertension (72,74,96,106), cardiomyopathy (103), and stroke (75). However, the true clinical impact of these studies is still debated, considering that the most frequent cardiovascular diseases are polygenic disorders (99).…”

Section: Resistance To the Biological Effects Of Cnhsmentioning

confidence: 99%

Thirty years of the heart as an endocrine organ: physiological role and clinical utility of cardiac natriuretic hormones

Clerico

Giannoni

Vittorini

et al. 2011

American Journal of Physiology-Heart and Circulatory Physiology

174

217

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Clerico A, Giannoni A, Vittorini S, Passino C. Thirty years of the heart as an endocrine organ: physiological role and clinical utility of cardiac natriuretic hormones. Am J Physiol Heart Circ Physiol 301: H12-H20, 2011. First published May 6, 2011; doi:10.1152/ajpheart.00226.2011 reported that atrial extracts contain some biologically active peptides, which promote a rapid and massive diuresis and natriuresis when injected in rats. It is now clear that the heart also exerts an endocrine function and in this way plays a key role in the regulation of cardiovascular and renal systems. The aim of this review is to discuss some recent insights and still-debated findings regarding the cardiac natriuretic hormones (CNHs) produced and secreted by cardiomyocytes (i.e., atrial natriuretic peptide and B-type natriuretic peptide). The functional status of the CNH system depends not only on the production/secretion of CNHs by cardiomyocytes but also on both the peripheral activation of circulating inactive precursor of natriuretic hormones and the transduction of the hormone signal by specific receptors. In this review, we will discuss the data supporting the hypothesis that the production and secretion of CNHs is the result of a complex integration among mechanical, chemical, hemodynamic, humoral, ischemic, and inflammatory inputs. The cross talk among endocrine function, adipose tissue, and sex steroid hormones will be discussed more in detail, considering the clinically relevant relationships linking together cardiovascular risk, sex, and body fat development and distribution. Finally, we will review the pathophysiological role and the clinical relevance of both peripheral maturation of the precursor of B-type natriuretic peptides and hormone signal transduction.B-type natriuretic peptide; sex steroids; adipokines; heart failure; cardiovascular risk THIRTY YEARS AGO, De Bold et al. (20) reported that atrial extracts contain some biological active peptides, which promote a rapid and massive diuresis and natriuresis when injected in rats. Several endogenous peptide hormones with natriuretic and vasodilator activity have been identified in the human blood and peripheral tissues (3,30,69,85,86). Atrial natriuretic peptide (ANP), brain natriuretic peptide (BNP), and their related peptides are predominantly produced by atrial and ventricular cardiomyocytes. The term "cardiac natriuretic hormones" (CNHs) will be used in this review to indicate these two families of natriuretic peptides. Another natriuretic peptide, named C-type natriuretic peptide (CNP), is predominantly produced by the endothelial cells, including those of cardiac vessels. Finally, urodilatin is an NH 2 -terminal (NT) 4-amino acid (aa) extented form of ANP, which is produced by the same ANP gene and secreted into the urine by renal tubular cells (16,34,69).From the original observations made 30 years ago, the advances in this particular research field have determined a complete revision about the role of the heart. It is now clear that the heart also exerts a...

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Section: Resistance To the Biological Effects Of Cnhsmentioning

confidence: 99%

Thirty years of the heart as an endocrine organ: physiological role and clinical utility of cardiac natriuretic hormones

Clerico

Giannoni

Vittorini

et al. 2011

American Journal of Physiology-Heart and Circulatory Physiology

174

217

View full text Add to dashboard Cite

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“…However, the authors did not observe any significant association between the 8-bp deletion in the 5Ј UTR and essential hypertension (68 ).…”

Section: Biological Significance and Clinical Relevancementioning

confidence: 77%

“…The (CT)n polymorphism in the 5Ј-flanking region of the NPR1 gene also was found to be significantly associated with essential hypertension, probably through the downregulation of NPR1 gene transcription (68 ). However, the authors did not observe any significant association between the 8-bp deletion in the 5Ј UTR and essential hypertension (68 ).…”

Section: Biological Significance and Clinical Relevancementioning

confidence: 88%

“…Some polymorphic sites were identified in the NPR1 gene, especially in the 5Ј-flanking region and other noncoding regions, that may influence the transcriptional activity of the gene and may be thus potentially involved in the pathogenesis of essential hypertension and other cardiovascular disease (37,54,(61)(62)(63)(64)(65)(66)(67)(68).…”

Section: Biological Significance and Clinical Relevancementioning

confidence: 99%

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Genetic Polymorphisms of the Natriuretic Peptide System in the Pathogenesis of Cardiovascular Disease: What Lies on the Horizon?

Vassalle

Andreassi

2009

Clinical Chemistry

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Background: The natriuretic peptide hormone family includes various proteins characterized by similar chemical structure and shared biological functions, with important effects on the cardiovascular system. Accordingly, these molecules are widely recognized as key clinical biomarkers in the diagnosis and monitoring of heart failure, hypertension, and coronary heart disease. Content: Several single-nucleotide polymorphisms have been recently identified in genes associated with the natriuretic system. This review provides an overview of new insights into the functional role of these genetic variants, as well as their impact on cardiovascular physiopathology and drug response. Conclusions: Noteworthy relationships between some specific polymorphisms and clinical correlates of cardiovascular disease have emerged. Nevertheless, future confirming studies are needed to substantiate the clinical relevance of such variants.

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“…In another study by the same authors, a missense mutation, M341I, consisting of a methionine (ATG) to isoleucine (ATC) substitution at nucleotide 1023 in exon 3, was identified and shown to be associated with EH (Nakayama et al, 2002). The (CT)n polymorphism in the 5'-flanking region of the NPRA gene also was found to be significantly associated with EH, probably through the downregulation of NPRA gene transcription (Usami et al, 2008). In a Greek population, no association between NPRA gene polymorphisms and hypertension were found (Tsezou et al, 2008).…”

Section: Discussionmentioning

confidence: 95%

Association of NPRA and NPRC gene variants and hypertension in Mongolian population

Qin

et al. 2015

Genet. Mol. Res.

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ABSTRACT. NPRA and NPRC are candidate susceptibility genes for essential hypertension (EH) and play a key role in the regulation of plasma levels and biological effects of natriuretic peptides. The aims of the present study were to find new genetic markers in the NPRA and NPRC genes and to assess relationships between variants and EH. A total of 797 unrelated Mongolian herdsmen were enrolled, including 389 EH patients and 408 normotensive controls. Genotyping was performed using the polymerase chain reaction/ligase detection reaction assay. The distribution of the T-allele frequency of rs1847018 in NPRC differed significantly between hypertensive subjects and controls. There was an association between rs1847018 and EH in the additive model in NPRC (P < 0.05). There were no significant differences in the genotype and allele frequency distributions for any of the 3 single nucleotide polymorphisms in NPRA between EH and normotensive individuals. In NPRA, the frequency of haplotype TCA in the EH group was significantly lower than in controls, while the frequency of haplotype TCG was significantly higher in the EH group than in controls; Individuals who possessed the TCA haplotype had a significantly lower ©FUNPEC-RP www.funpecrp.com.br Genetics and Molecular Research 14 (4): 18494-18502 (2015) 18495NPRA and NPRC gene variants and hypertension ©FUNPEC-RP www.funpecrp.com.br Genetics and Molecular Research 14 (4): 18494-18502 (2015) risk of EH, whereas the presence of haplotype TCG was significantly associated with a higher risk of EH. However, there was no significant difference between the EH group and controls in any of the 8 haplo types in NPRC. Rs1847018 is a genetic marker of EH in NPRC, and the frequency of haplotype TCA and TCG in NPRA is associated with EH in the Mongolian population.

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Association of CT Dinucleotide Repeat Polymorphism in the 5'-Flanking Region of the Guanylyl Cyclase (GC)-A Gene with Essential Hypertension in the Japanese

Abstract: Guanylyl cyclase (GC)-

Cited by 14 publications

References 22 publications

Thirty years of the heart as an endocrine organ: physiological role and clinical utility of cardiac natriuretic hormones

Thirty years of the heart as an endocrine organ: physiological role and clinical utility of cardiac natriuretic hormones

Genetic Polymorphisms of the Natriuretic Peptide System in the Pathogenesis of Cardiovascular Disease: What Lies on the Horizon?

Association of NPRA and NPRC gene variants and hypertension in Mongolian population

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