5-HTT, BMPR2, EDN1, ENG, KCNA5 gene polymorphisms and susceptibility to pulmonary arterial hypertension: A meta-analysis

Jiao, Yurui; Wang, Wei; Lei, Pengcheng; Jia, Hui-ping; Dong, Jie; Gou, Yun-qian; Chen, Chenglong; Cao, Jie J; Wang, Yafeng; Zhu, Yun

doi:10.1016/j.gene.2018.09.020

Cited by 27 publications

(16 citation statements)

References 32 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Endothelin 1 gene (EDN1) is one of the families of three endothelins that exert their action through two G-protein-coupled receptors [ 29 ]. As the prominent endothelial mediator, EDN1 had a vasoconstrictive action and could induce cell proliferation [ 30 ], while claudin 1 (CLDN1) is associated with risk of several cancers [ 30 ], indicating that PM2.5 may affect vessels and cancer, but the mechanisms between these genes and skin health need further exploration.…”

Section: Discussionmentioning

confidence: 99%

Identification of Differentially Expressed Genes and Elucidation of Pathophysiological Relevance of ABCA1 in HaCaT Cells Induced by PM2.5

Peng

Xue

Yang

et al. 2021

Bioinorganic Chemistry and Applications

View full text Add to dashboard Cite

Objective. In order to investigate the effects of PM2.5 on proliferation, cell cycle, apoptosis, and potential mechanism of human keratinocyte cell line HaCaT. Methods. HaCaT cells were treated with different concentrations of PM2.5 suspension for 24 hours. Cell viability was detected by the CCK-8 method. Cell cycle distribution and apoptosis were detected by flow cytometry. Microarray analyses were used to find out the microarray gene expression profiling; data processing included gene enrichment and pathway analysis. Western blot was conducted to validate the key pathways and regulators in the microarray analysis. Results. The cell activity decreased, and the cell cycle was significantly inhibited with the increase in PM2.5 concentration. Also, by conducting the gene expression microarray assay, we identified 541 upregulated genes and 935 downregulated genes in PM2.5-treated HaCaT cells. Real-time qPCR and western blot confirmed that PM2.5 treatment could induce the expression of ABCA1 while inhibiting that of END1 and CLDN1. Conclusion. Our results showed that PM2.5 could potentially regulate cell apoptosis and cell cycle arrest via ABCA1-, END1-, ID1-, and CLDN1-mediated pathways in human HaCaT cells, which laid a good foundation for follow-up drug intervention and drug development against skin damage caused by PM2.5 exposure.

show abstract

Section: Discussionmentioning

confidence: 99%

Identification of Differentially Expressed Genes and Elucidation of Pathophysiological Relevance of ABCA1 in HaCaT Cells Induced by PM2.5

Peng

Xue

Yang

et al. 2021

Bioinorganic Chemistry and Applications

View full text Add to dashboard Cite

show abstract

“…www.nature.com/scientificreports www.nature.com/scientificreports/ However, although our research group and others have identified the involvement of TGF-β1 receptors in cardiovascular and renal damage (as described in the introduction section), to date there are no studies relating the presence of gene polymorphic variants in TGF-β1 receptors with cardiovascular damage. The only studies relating ALK1 and endoglin polymorphisms with cardiovascular damage show the absence of associations between the ALK1 rs2071219 polymorphism and the risks of brain arteriovenous malformations 28 , and between the endoglin rs3739817 polymorphism with human pulmonary arterial HP 29 . One study with the endoglin rs10987759 polymorphism shows a trend toward association with sporadic brain arteriovenous malformations, although it does not reach statistical significance 30 .…”

Section: Discussionmentioning

confidence: 99%

Association of Alk1 and Endoglin Polymorphisms with Cardiovascular Damage

Garzon-Martinez

Perretta-Tejedor

Gómez‐Marcos

et al. 2020

Sci Rep

View full text Add to dashboard Cite

Cardiovascular diseases are associated to risk factors as obesity, hypertension and diabetes. The transforming growth factor-β1 receptors ALK1 and endoglin regulate blood pressure and vascular homeostasis. However, no studies relate the association of ALK1 and endoglin polymorphisms with cardiovascular risk factors. We analysed the predictive value of the ALK1 and endoglin polymorphisms on cardiovascular target organ damage in hypertensive and diabetic patients in 379 subjects with or without hypertension and diabetes in a Primary Care setting. The ALK1 rs2071219 polymorphism (AA genotype) is associated with a lower presence of diabetic retinopathy and with the absence of altered basal glycaemia. Being carrier of the ALK1 rs3847859 polymorphism (G allele) is associated with lower basal heart rate and with higher LDL-cholesterol levels. The endoglin rs3739817 polymorphism (AA genotype) is associated with higher levels of LDL-cholesterol, and being carrier of the endoglin rs10987759 polymorphism (C allele) is associated with higher haemoglobin levels and with an increased heart rate. Summarizing, several ALK1 and endoglin gene polymorphisms increase the risk of cardiovascular events. The analysis of these polymorphisms in populations at risk, in combination with the determination of other parameters and biomarkers, could implement the diagnosis and prognosis of susceptibility to cardiovascular damage.

show abstract

“…In addition to the quantity of functional SERT protein in the cytoplasmic membrane of PASMC, the transporter activity seems to influence the uptake of serotonin [6]. Furthermore, risk of developing PH and its severity in the course of COPD appears to be associated with certain SERT gene polymorphisms, especially with the LL genotype of its promoter region [37,38]. Accumulating evidence suggests that 5-HT receptors regulate the SERT activity in the PASMC membrane leading to lower serotonin uptake and in turn higher extracellular serotonin levels available for 5-HT receptor activation [30,33].…”

Section: Discussionmentioning

confidence: 99%

Increased pulmonary serotonin transporter in patients with chronic obstructive pulmonary disease who developed pulmonary hypertension

Frille

Rullmann

Becker

et al. 2020

Eur J Nucl Med Mol Imaging

View full text Add to dashboard Cite

Purpose Pulmonary hypertension (PH) is characterized by a progressive remodelling of the pulmonary vasculature resulting in right heart failure and eventually death. The serotonin transporter (SERT) may be involved in the pathogenesis of PH in patients with chronic-obstructive pulmonary disease (COPD). This study investigated for the first time the SERT in vivo availability in the lungs of patients with COPD and PH (COPD+PH). Methods SERT availability was assessed using SERT-selective [11C]DASB and positron emission tomography/computed tomography (PET/CT) with dynamic acquisition over 30 min in 4 groups of 5 participants each: COPD, COPD+PH, pulmonary arterial hypertension, and a healthy control (HC). Time activity curves were generated based on a volume of interest within the middle lobe. Tissue-to-blood concentration ratios after 25 to 30 min (TTBR25–30) served as receptor parameter for group comparison and were corrected for lung tissue attenuation. Participants underwent comprehensive pulmonary workup. Statistical analysis included group comparisons and correlation analysis. Results [11C]DASB uptake peak values did not differ among the cohorts after adjusting for lung tissue attenuation, suggesting equal radiotracer delivery. Both the COPD and COPD+PH cohort showed significantly lower TTBR25–30 values after correction for lung attenuation than HC. Attenuation corrected TTBR25–30 values were significantly higher in the COPD+PH cohort than those in the COPD cohort and higher in non-smokers than in smokers. They positively correlated with invasively measured severity of PH and inversely with airflow limitation and emphysema. Considering all COPD patients ± PH, they positively correlated with right heart strain (NT-proBNP). Conclusion By applying [11C]DASB and PET/CT, semiquantitative measures of SERT availability are demonstrated in the lung vasculature of patients with COPD and/or PH. COPD patients who developed PH show increased pulmonary [11C]DASB uptake compared to COPD patients without PH indicating an implication of pulmonary SERT in the development of PH in COPD patients.

show abstract

5-HTT, BMPR2, EDN1, ENG, KCNA5 gene polymorphisms and susceptibility to pulmonary arterial hypertension: A meta-analysis

Cited by 27 publications

References 32 publications

Identification of Differentially Expressed Genes and Elucidation of Pathophysiological Relevance of ABCA1 in HaCaT Cells Induced by PM2.5

Identification of Differentially Expressed Genes and Elucidation of Pathophysiological Relevance of ABCA1 in HaCaT Cells Induced by PM2.5

Association of Alk1 and Endoglin Polymorphisms with Cardiovascular Damage

Increased pulmonary serotonin transporter in patients with chronic obstructive pulmonary disease who developed pulmonary hypertension

Contact Info

Product

Resources

About