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Molecular and clinical analysis of TRPC6 and AGTR1 genes in patients with pulmonary arterial hypertension

Overview of attention for article published in Orphanet Journal of Rare Diseases, January 2015
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Title
Molecular and clinical analysis of TRPC6 and AGTR1 genes in patients with pulmonary arterial hypertension
Published in
Orphanet Journal of Rare Diseases, January 2015
DOI 10.1186/s13023-014-0216-3
Pubmed ID
Authors

Guillermo Pousada, Adolfo Baloira, Diana Valverde

Abstract

BackgroundPulmonary arterial hypertension (PAH) is a rare and progressive vascular disorder characterized by increased pulmonary vascular resistance and right heart failure. The aim of this study was to analyze 5¿UTR region in canonical transient receptor potential isoform 6 (TRPC6) and 3¿UTR region in Angiotensin II type I receptor (AGTR1) genes in patients with idiopathic and associated PAH. Correlation among mutations and clinical and functional parameters was further analyzed.MethodsAnalysis of TRPC6 and AGTR1 genes was performed by polymerase chain reaction (PCR) and direct sequencing. We used a non-parametric test to determine if significant differences were found between the groups studied and chi-square test to compare clinical and hemodynamic variables among genotypes.ResultsFifty five patients and fifty two controls were included in this study. We found statisticallysignificant differences for c.1-361A¿>¿T (p¿=¿0.0077), c.1-254C¿>¿G (p¿<¿0.0001) and c.1-218C¿>¿T (p¿=¿0.0021) in TRPC6 gene and c.1166A¿>¿C (p¿<¿0.001) in AGTR1 gene, between patients and controls. Idiopathic PAH patients (IPAH) and controls presented significant differences for all 3 TRPC6 polymorphisms (p¿=¿0.020), (p¿=¿0.002) and (p¿=¿0.008) respectively, and also showed differences for AGTR1 gene (p¿<¿0.001). In associated PAH (APAH) patients we found statistical differences for c.1-254C¿>¿G (p¿<¿0.001) and c.1-218C¿>¿T (p¿=¿0.001) in TRPC6 gene and c.1166A¿>¿C (p¿=¿0.001) in AGTR1 gene. Several clinical and hemodynamic parameters showed significant differences between carriers and non-carriers of these single nucleotide polymorphisms (SNPs). Nineteen patients were carriers of all 3 SNPs in TRPC6 gene and presented a more severe phenotype with differences in mean pulmonary arterial pressure (p¿=¿0.016), systolic pulmonary arterial pressure (p¿=¿0.040), cardiac index (p¿<¿0.001) and 6 minute walking test (p¿=¿0.049). 16 of these patients harbored the SNP in AGTR1 gene. These patients showed differences in age at diagnosis (p¿=¿0.049), mean pulmonary arterial pressure (p¿=¿0.033), cardiac index (p¿=¿0.002) and 6 minute walking test (p¿=¿0.039).ConclusionsPAH is a rare disease with pulmonary vascular remodeling caused in part by a heterogeneous constellation of genetic arrangements. This study seems to suggest that c.1-361A¿>¿T, c.1-254C¿>¿G and c.1-218C¿>¿T polymorphisms in TRPC6 gene and c.1166A¿>¿C polymorphism in AGTR1 could have a role in the development of this disease.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 46 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 46 100%

Demographic breakdown

Readers by professional status Count As %
Student > Master 8 17%
Researcher 7 15%
Student > Postgraduate 6 13%
Student > Doctoral Student 5 11%
Other 5 11%
Other 10 22%
Unknown 5 11%
Readers by discipline Count As %
Medicine and Dentistry 17 37%
Biochemistry, Genetics and Molecular Biology 7 15%
Nursing and Health Professions 7 15%
Pharmacology, Toxicology and Pharmaceutical Science 3 7%
Agricultural and Biological Sciences 3 7%
Other 3 7%
Unknown 6 13%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 12 July 2020.
All research outputs
#17,288,374
of 25,387,189 outputs
Outputs from Orphanet Journal of Rare Diseases
#2,041
of 3,087 outputs
Outputs of similar age
#220,629
of 360,470 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#36
of 59 outputs
Altmetric has tracked 25,387,189 research outputs across all sources so far. This one is in the 21st percentile – i.e., 21% of other outputs scored the same or lower than it.
So far Altmetric has tracked 3,087 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 8.2. This one is in the 26th percentile – i.e., 26% of its peers scored the same or lower than it.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 360,470 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 30th percentile – i.e., 30% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 59 others from the same source and published within six weeks on either side of this one. This one is in the 35th percentile – i.e., 35% of its contemporaries scored the same or lower than it.