Genetics and Genomics of Pulmonary Arterial Hypertension

• Format: eBook
• Language: English
• Published: Basel MDPI - Multidisciplinary Digital Publishing Institute 2022
• Subjects: and genetics; Biology, life sciences; blood; BMPR2; BMPR2 promoter; bone morphogenetic protein receptor 2; bone morphogenetic protein receptor type 2; clinical trials; digenic inheritance; DNA damage; DNA repair; EIF2AK4; endothelial cells; epigenetic inheritance; eQTL; estradiol; estrogen; exome sequencing; expression quantitative trait locus; familial; forward genetics; forward phenotyping; GDF2; gender; genetic analysis; genetic heterogeneity; genetics; Genetics (non-medical); genomics; heritable; heritable pulmonary arterial hypertension; intermediate phenotypes; Life sciences: general issues; lung disease; massive parallel sequencing; Mathematics and Science; miRNA; molecular genetics; n/a; NGS; NGS gene panel; paediatrics; PAH; pathogenic variant; pediatrics; penetrance; pharmaceuticals; phenotypic heterogeneity; pulmonary arterial hypertension; pulmonary hypertension; Reference, Information and Interdisciplinary subjects; repurposed drugs; Research and information: general; reverse genetics; reverse phenotyping; signaling; smooth muscle cells; TBX4; whole-genome sequencing
• ISBN: 3036548300; 9783036548296; 3036548297; 9783036548302
• DOI: 10.3390/books978-3-0365-4830-2

Pulmonary arterial hypertension is a severe and progressive disorder affecting the blood vessels in the lungs. Typically, symptoms first appear at around 30–40 years of age and, without treatment, can lead to fatal heart disease within a few years. Genetic studies over the past decade have identified numerous genes that contribute to disease progression but, for many sufferers, the underlying genetic cause remains elusive. The collection of reviews and original research articles contained within this book provide an overview of recent advancements in understanding the genetic risk factors for pulmonary arterial hypertension. We further examine the emerging interplay between genetic variants and clinical outcomes, providing a framework for new treatments and improved patient care.