Association of<i>NPR3</i>polymorphism with risk of essential hypertension in a Chinese population

Kuang, Da‐Bin; Jp, Zhou; Mp, Li; Tang, Jie; Chen, XP

doi:10.1111/jcpt.12549

Cited by 5 publications

(3 citation statements)

References 35 publications

(57 reference statements)

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“…Another gene classified as dosage-sensitive is NPR3, deleted in one patient. A study in rats showed that this gene seems to be related to hypertension and blood pressure increase regardless of salt intake, but the effect in humans remains uncertain (Kuang, Zhou, Li, Tang, & Chen, 2017). Deletion of this gene did not show any physiological impact.…”

Section: Discussionmentioning

confidence: 99%

Breakpoint delineation in 5p‐ patients leads to new insights about microcephaly and the typical high‐pitched cry

Chehimi

Zanardo

Ceroni

et al. 2019

Molec Gen & Gen Med

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Background Cri du chat syndrome (CdCS) is a rare syndrome caused by a partial or complete deletion of the short arm of chromosome 5 (5p‐). The main clinical features include a high‐pitched cry, facial asymmetry, microcephaly, round face at birth, epicanthal folds, hypotonia, delayed growth and development. Methods We studied 14 Brazilian patients with CdCS using genomic array in order to better define the 5p breakpoints and recognize copy number variations (CNVs) that contribute to clinical manifestations associated with the syndrome. Results Array confirmed terminal deletions in 13 patients and an interstitial deletion in one patient. It was also possible to map the breakpoints and associate a genomic region of 4.7 Mb to the development of head circumference and cat‐like cry. We also found other CNVs concomitant to the 5p deletion including a 9p duplication, a 17q deletion, and a 22q deletion in three different patients. Conclusion With advancements of molecular cytogenomic methods in the last two decades, it was possible to evidence cryptic alterations and improve the genotype–phenotype correlation. In this work, we describe a new genomic region associated with microcephaly and cat‐like cry and highlight the importance of precise delineation of 5p deletion breakpoints and detection of other CNVs in CdCS patients to improve genotype–phenotype correlation to perform a complete clinical and molecular diagnosis.

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Section: Discussionmentioning

confidence: 99%

Breakpoint delineation in 5p‐ patients leads to new insights about microcephaly and the typical high‐pitched cry

Chehimi

Zanardo

Ceroni

et al. 2019

Molec Gen & Gen Med

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“…A promotor variant of NPR3 is linked to an increased risk of early-onset ischemic stroke. [22] In 2011, the Asian Genetic Epidemiology Network BP group identified genetic variants of NPR3 inducing blood pressure among East Asian population. Kato et al identified novel genome-wide associations between high blood pressure and NPR3 variants that affected SBP, DBP, stroke, and coronary artery disease.…”

Section: Raas Systemmentioning

confidence: 99%

Contribution of Hypertension to Cerebrovascular Disease in the Asian Population

Khan¹,

Cher²,

Lee³

2018

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Background Definition Hypertension or high blood pressure (BP) is a known independent risk factor for cardiovascular diseases and continues to be a major contributor of cardiovascular mortality worldwide. The World Health Organization (WHO) reports a 40% overall prevalence of hypertension in adults over age 25 (2008), contributing to 7.5 million deaths (12.8% of all deaths) annually. While the incidence of hypertension has decreased, the overall number of hypertensive adults continues to rise due to population growth and aging. [1] The eighth report of the Joint National Committee (JNC) classified normal blood pressure as systolic blood pressure (SBP) greater than 120 mmHg, and diastolic blood pressure (DBP) greater than 80 mmHg, while prehypertension is defined as SBP 120-139 or DBP 80-89 mmHg. Class I hypertension is SBP 140-159 mmHg or DBP 90-99 mmHg, and Class II hypertension is SBP >160 mmHg or DBP >100 mmHg. The diagnosis of hypertension can be met with either DBP or SBP meeting criteria and does not require both values to be in the reference range. [2] Other than hyperlipidemia and diabetes mellitus, hypertension is one of the three main modifiable risk factors for stroke which is the second leading cause of death and the third leading cause of disability worldwide. [1] Hence, understanding the pathophysiology of hypertension and its contribution to

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“…O gene NPR3 está relacionado, em ratos, ao aumento de pressão sanguínea e hipertensão, independente do consumo de sal, mas o efeito de sua haploinsuficência em humanos permanece incerto (Kuang et al, 2017). Além desses genes, Nguyen et al (2015) destacaram outros genes como condicionalmente haploinsuficientes, ou seja, que apresentam algum fator de risco para a doença: SLC6A3, CDH18, CDH12, CDH10, CDH9, CDH6.…”

Section: Características Genômicas Da Região De 5punclassified

Caracterização citogenêmica da deleção do braço curto do cromossomo 5

Chehimi¹

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Association ofNPR3polymorphism with risk of essential hypertension in a Chinese population

Abstract: This study suggested that NPR3 rs2270915 polymorphism was associated with decreased SBP level marginally in EH patients in a Chinese Han population, and the polymorphism may function through decreasing NPR3 mRNA expression and ANP level.

Cited by 5 publications

References 35 publications

Breakpoint delineation in 5p‐ patients leads to new insights about microcephaly and the typical high‐pitched cry

Breakpoint delineation in 5p‐ patients leads to new insights about microcephaly and the typical high‐pitched cry

Contribution of Hypertension to Cerebrovascular Disease in the Asian Population

Caracterização citogenêmica da deleção do braço curto do cromossomo 5

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