Association study of apelin-APJ system genetic polymorphisms with incident metabolic syndrome in a Chinese population: a case-control study

Zhang, Meijin; Peng, Feng; Lin, Liming; Yu, Mingzhong; Huang, Chengyuan; Hu, Dan; Guo, Qinghui; Xu, Changsheng; Lin, Jinxiu

doi:10.18632/oncotarget.24111

Cited by 6 publications

(5 citation statements)

References 36 publications

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“… 77 The risk alleles include Apelin rs3115757C, rs56204867C, and rs3761581A. 78 Beside polymorphisms, in vitro functional assays viz luciferase assay and real-time PCR, revealed allele-specific transcriptional regulation of apelin/APJ pathway by TFs such as TF specificity protein 1 (SP1). 79 Likewise, electrophoretic mobility shift assay and chromatin immunoprecipitation confirmed SP1 binding to the APLNR polymorphism rs9943582 (–154G/A), specifically to G allele and thereby upregulating its expression.…”

Section: Allele-dependent Control Of Apelin and No Signalingmentioning

confidence: 99%

“…The apelin–APJ polymorphisms also were reported with low apelin 13 levels and the risk of hypertension 77 . The risk alleles include Apelin rs3115757C, rs56204867C, and rs3761581A 78 . Beside polymorphisms, in vitro functional assays viz luciferase assay and real‐time PCR, revealed allele‐specific transcriptional regulation of apelin/APJ pathway by TFs such as TF specificity protein 1 (SP1) 79 .…”

Section: Allele‐dependent Control Of Apelin and No Signalingmentioning

confidence: 99%

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Vascular homeostasis at high‐altitude: role of genetic variants and transcription factors

et al. 2020

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total number of manuscript pages -41 • total number of figures -4 • word count for the body of the text -7834 • type of contribution -review article AbstractHigh-altitude pulmonary edema (HAPE) occurs most frequently in non-acclimatized low landers on exposure to altitude ≥2500m. HAPE is a complex condition that involves perturbation of signaling pathways in vasoconstrictors, vasodilators, anti-diuretics and vascular growth factors. Genetic variations are instrumental in regulating these pathways and evidence is accumulating for a role of epigenetic modification in hypoxic responses. This review focuses on the crosstalk between HAPE-associated genetic variants and transcription factors, comparing high-altitude adapted and HAPE-afflicted subjects. This approach might ultimately yield biomarker information both to understand and to design therapies for high altitude adaptation.Evolution and physiological adaptation have permitted survival at the highest topographically elevated regions of the world. [1][2][3][4][5] Reduced air pressure at high-altitude decreases the partial pressure of inspired oxygen, affecting lungs, brain, heart and blood and can lead to a spectrum of high-altitude disorders including high-altitude pulmonary edema (HAPE), acute mountain sickness (AMS) and high-altitude cerebral edema (HACE). 6,7 This review focuses on HAPE. HAPE is a consequence of hypoxic pulmonary vasoconstriction leading to increased pulmonary arterial pressure and capillary stress failure. 8-11 HAPE victims have lower arterial oxygen saturation (SaO2) and higher heart rate, pulmonary vascular resistance and pulmonary vascular resistance index 12,13 than do unaffected sojourners to altitude. Clinically HAPE is characterized by dyspnoea, elevated body temperature, pink frothy sputum, tachypnoea, tachycardia, persistent cough and cyanosis. [14][15][16][17] Chest X-rays and CT scans show increased lung vascular markings and patchy shadows. 18,19 There have been great strides in understanding the clinical and physiological mechanisms of HAPE that has led to the discovery of successful treatments. Information on genetic contributions to this disorder has also grown rapidly over the last decade, partly to the development and implementation of newer genetic techniques. Candidate-gene approaches, advanced techniques such as Next-GenerationSequencing and Genome-Wide Association Studies have led to association of multiple genetic variants with high-altitude adaptation or maladaptation. [20][21][22][23][24][25][26] The majority of these genes belong to multiple, frequently related pathways. These include the renin-angiotensin aldosterone system, apelin signaling, nitric oxide signaling, and hypoxia induced signaling.These pathways regulate vasoactive molecules including angiotensin II, apelin, nitric oxide, aldosterone, and beta-adrenergics. [27][28][29][30][31] In addition to genetic variation, epigenetics plays prominent role in HAPE and other diseases. [32][33][34][35] DNA methylation, acetylation, histone modifications/chromatin rem...

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Section: Allele-dependent Control Of Apelin and No Signalingmentioning

confidence: 99%

Section: Allele‐dependent Control Of Apelin and No Signalingmentioning

confidence: 99%

Vascular homeostasis at high‐altitude: role of genetic variants and transcription factors

et al. 2020

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“…Apelin treatment has been proven beneficial for conditions as diverse as hypertension, atherosclerosis, myocardial infarction, and other cardiovascular diseases (Zhou et al, 2016). Numerous studies have shown that APLN/APLNR polymorphisms are associated with the risk of several diseases such as hypertension, CAD, and diabetes mellitus (Nowzari et al, 2018;Wu et al, 2018;Zhang et al, 2019). Our results demonstrated that the T allele of the rs2235310 polymorphism and the C allele of the rs9943582 polymorphism were risk factors in the development of CHD.…”

Section: Discussionmentioning

confidence: 51%

Association of Apelin and Apelin Receptor Polymorphisms With the Risk of Comorbid Depression and Anxiety in Coronary Heart Disease Patients

Wang

Liu

et al. 2020

Front. Genet.

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The Apelin (APLN)/apelin receptor (APLNR) signaling pathway is a newly identified regulator in various cardiovascular diseases, which is considered as a candidate pathway for the occurrence of coronary heart disease (CHD), depression, and anxiety. The goal of this study was to investigate the association between APLN/APLNR gene polymorphisms and the risk of depression and anxiety in CHD patients. To this end, a case-control study involving 269 CHD patients and 184 healthy control individuals was conducted. The 269 patients with CHD including 122 patients with and 147 patients without depression, and 56 patients with and 213 patients without anxiety Four single nucleotide polymorphisms were selected and successfully genotyped using Sanger sequencing. The APLN rs2235310T allele and APLNR rs9943582C allele were found to be associated with an increased risk of CHD after multiple test correction (Padjust < 0.05). The patients with CHD who carried the rs9943582C allele had a higher risk of depression, after adjusting for alcohol drinking habits, insomnia, hypertension, and stroke history, with the Bonferroni correction (P-adjust = 0.018). The APLNR rs2282623 T allele was associated with an increased risk of anxiety in CHD patients after adjusting for related disease complications, with the Bonferroni correction (Padjust = 0.022). We reported for the first time that the APLN rs2235310 and APLNR rs2282623 polymorphisms are associated with the risks of psychiatric disorders in CHD patients and may serve as novel biomarkers for therapy.

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“…The rs2281068 variant ( APLN gene) is associated with T2DM in the Chinese Han population [ 67 ], whereas the rs3115757 variant correlates with obesity among women in a Chinese population [ 68 ]. The receptor (encoded by the APLNR gene) to which apelin binds is expressed in the spleen, brain, placenta, and adipose tissues [ 69 ].…”

Section: Resultsmentioning

confidence: 99%

Functionally Significant Variants in Genes Associated with Abdominal Obesity: A Review

Bairqdar

Ivanoshchuk

Shakhtshneider

2023

JPM

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The high prevalence of obesity and of its associated diseases is a major problem worldwide. Genetic predisposition and the influence of environmental factors contribute to the development of obesity. Changes in the structure and functional activity of genes encoding adipocytokines are involved in the predisposition to weight gain and obesity. In this review, variants in genes associated with adipocyte function are examined, as are variants in genes associated with metabolic aberrations and the accompanying disorders in visceral obesity.

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Association study of apelin-APJ system genetic polymorphisms with incident metabolic syndrome in a Chinese population: a case-control study

Cited by 6 publications

References 36 publications

Vascular homeostasis at high‐altitude: role of genetic variants and transcription factors

Vascular homeostasis at high‐altitude: role of genetic variants and transcription factors

Association of Apelin and Apelin Receptor Polymorphisms With the Risk of Comorbid Depression and Anxiety in Coronary Heart Disease Patients

Functionally Significant Variants in Genes Associated with Abdominal Obesity: A Review

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