scholarly journals A genome-wide association analysis identifies PDE1A|DNAJC10 locus on chromosome 2 associated with idiopathic pulmonary arterial hypertension in a Japanese population

Oncotarget ◽  
2017 ◽  
Vol 8 (43) ◽  
pp. 74917-74926 ◽  
Author(s):  
Mai Kimura ◽  
Yuichi Tamura ◽  
Christophe Guignabert ◽  
Makoto Takei ◽  
Kenjiro Kosaki ◽  
...  
Keyword(s):  
Pulmonary Arterial Hypertension ◽  
Arterial Hypertension ◽  
Association Analysis ◽  
Japanese Population ◽  
Idiopathic Pulmonary Arterial Hypertension ◽  
Genome Wide Association ◽  
Chromosome 2 ◽  
Genome Wide ◽  
A Genome ◽  
Pulmonary Arterial

scholarly journals Genome-wide association analysis identifies a susceptibility locus for pulmonary arterial hypertension

2013 ◽  
Vol 45 (5) ◽  
pp. 518-521 ◽  
Author(s):  
Marine Germain ◽  
Mélanie Eyries ◽  
David Montani ◽  
Odette Poirier ◽  
Barbara Girerd ◽  
...  
Keyword(s):  
Pulmonary Arterial Hypertension ◽  
Arterial Hypertension ◽  
Association Analysis ◽  
Genome Wide Association ◽  
Susceptibility Locus ◽  
Genome Wide Association Analysis ◽  
Genome Wide ◽  
Pulmonary Arterial

scholarly journals Epigenetic mechanisms in pulmonary arterial hypertension: the need for global perspectives

2016 ◽  
Vol 25 (140) ◽  
pp. 135-140 ◽  
Author(s):  
Prakash Chelladurai ◽  
Werner Seeger ◽  
Soni Savai Pullamsetti
Keyword(s):  
Dna Methylation ◽  
Pulmonary Arterial Hypertension ◽  
Arterial Hypertension ◽  
Histone Deacetylases ◽  
Molecular Mechanisms ◽  
Epigenetic Mechanisms ◽  
Aberrant Expression ◽  
Genome Wide ◽  
A Genome ◽  
Pulmonary Arterial

Pulmonary arterial hypertension (PAH) is a severe and progressive disease, characterised by high pulmonary artery pressure that usually culminates in right heart failure. Recent findings of alterations in the DNA methylation state of superoxide dismutase 2 and granulysin gene loci; histone H1 levels; aberrant expression levels of histone deacetylases and bromodomain-containing protein 4; and dysregulated microRNA networks together suggest the involvement of epigenetics in PAH pathogenesis. Thus, PAH pathogenesis evidently involves the interplay of a predisposed genetic background, epigenetic state and injurious events. Profiling the genome-wide alterations in the epigenetic mechanisms, such as DNA methylation or histone modification pattern in PAH vascular cells, may explain the great variability in susceptibility and disease severity that is frequently associated with pronounced remodelling and worse clinical outcome. Moreover, the influence of genetic predisposition and the acquisition of epigenetic alterations in response to environmental cues in PAH progression and establishment has largely been unexplored on a genome-wide scale. In order to gain insights into the molecular mechanisms leading to the development of PAH and to design novel therapeutic strategies, high-throughput approaches have to be adopted to facilitate systematic identification of the disease-specific networks using next-generation sequencing technologies, the application of these technologies in PAH has been relatively trivial to date.

Sign in / Sign up

Export Citation Format

Share Document