Endothelin-1 Gene Polymorphisms rs5370, rs1476046, and rs3087459 are not Associated with Diabetic Nephropathy in Caucasians with Type 2 Diabetes Mellitus

Šeruga, Maja; Kariž, Stojan; Makuc, Jana; Završnik, Matej; Cilenšek, Ines; Gazdíková, Katarína; Čaprnda, Martin; Kružliak, Peter; Petrovič, Daniel

doi:10.1515/folmed-2017-0033

Cited by 4 publications

(1 citation statement)

References 42 publications

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“…However, studies on K198N variant have revealed that the "T" (Asn) allele actually has a protective role against DR in a Chinese population with type 2 diabetes [64]. Yet another study by Maja Seruga [65] showed that the EDN1 rs5370, rs1476046, and rs3087459 polymorphisms of EDN1 gene are not risk factors for DN in Caucasians with T2DM.…”

Section: Diabetic Retinopathy (Dr)mentioning

confidence: 99%

An Overview of Gene Variants of Endothelin-1: A Critical Regulator of Endothelial Dysfunction

Gupta¹

2023

Endothelial Dysfunction - A Novel Paradigm

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Endothelial dysfunction (ED) is an early marker of development of cardiovascular diseases and is closely related to clinical events in patients with atherosclerosis and hypertension. Endothelin-1 (ET-1), a potent vasoconstrictor, and nitic oxide (NO), a potent vasodilator, produced in endothelial cells are leading molecules which regulate vascular function. Failure of the physiological balance between these two molecules, often aggravated by increased production and biological activity of ET-1, commonly reflects endothelial dysfunction. The role of endothelium-derived small molecules like ET-1 (among many) with diverse biological functions continues to fascinate researchers all over the world both for its evolutionary significance and its translational potential in disease biology. Studies on systems genetics in human endothelial cells have provided evidence supporting the possibility that predisposition to complex disease is manifested through noncoding common genetic variants that modify levels of target gene expression in endothelial cells. These studies highlight the importance genetic variants of regulatory molecules secreted by endothelial cells in health and disease. It is unlikely that a single-nucleotide polymorphism (SNP) would directly cause disease, but it would increase the genetic predisposition of individuals and can affect their responses to drugs and medications. The knowledge gained would help in the risk stratification and clinical management of patients with personalized medicine.

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Section: Diabetic Retinopathy (Dr)mentioning

confidence: 99%

An Overview of Gene Variants of Endothelin-1: A Critical Regulator of Endothelial Dysfunction

Gupta¹

2023

Endothelial Dysfunction - A Novel Paradigm

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The ALOXA5AP gene (rs38022789) is associated with diabetic nephropathy in Slovenian patients with type 2 diabetes mellitus

Cilenšek

Šeruga

Makuc

et al. 2020

Gene

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Genetics of T2DM and Its Chronic Complications: Are We Any Closer to the Individual Prediction of Genetic Risk?

Galuška,

Dlouhá,

Hubáček

et al. 2022

Fol. Biol.

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Type 2 diabetes mellitus (T2DM) is a complex disease that has risen in global prevalence over recent decades, resulting in concomitant and enormous socio-economic impacts. In addition to the well-documented risk factors of obesity, poor dietary habits and sedentary lifestyles, genetic background plays a key role in the aetiopathogenesis of diabetes and the development of associated micro- and macro-vascular complications. Recent advances in genomic research, notably next-generation sequencing and genome-wide association studies, have greatly improved the efficiency with which genetic backgrounds to complex diseases are analysed. To date, several hundred single-nucleotide polymorphisms have been associated with T2DM or its complications. Given the polygenic background to T2DM (and numerous other complex diseases), the degree of genetic predisposition can be treated as a “continuous trait” quantified by a genetic risk score. Focusing mainly on the Central European population, this review summarizes recent state-of-the-art methods that have enabled us to better determine the genetic architecture of T2DM and the utility of genetic risk scores in disease prediction.

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Endothelin-1 Gene Polymorphisms rs5370, rs1476046, and rs3087459 are not Associated with Diabetic Nephropathy in Caucasians with Type 2 Diabetes Mellitus

Cited by 4 publications

References 42 publications

An Overview of Gene Variants of Endothelin-1: A Critical Regulator of Endothelial Dysfunction

An Overview of Gene Variants of Endothelin-1: A Critical Regulator of Endothelial Dysfunction

The ALOXA5AP gene (rs38022789) is associated with diabetic nephropathy in Slovenian patients with type 2 diabetes mellitus

Genetics of T2DM and Its Chronic Complications: Are We Any Closer to the Individual Prediction of Genetic Risk?

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