PT  - JOURNAL ARTICLE
AU  - Morrell, Nicholas W.
AU  - Aldred, Micheala A.
AU  - Chung, Wendy K.
AU  - Elliott, C. Gregory
AU  - Nichols, William C.
AU  - Soubrier, Florent
AU  - Trembath, Richard C.
AU  - Loyd, James E.
TI  - Genetics and genomics of pulmonary arterial hypertension
AID  - 10.1183/13993003.01899-2018
DP  - 2019 Jan 01
TA  - European Respiratory Journal
PG  - 1801899
VI  - 53
IP  - 1
4099  - https://publications.ersnet.org//content/53/1/1801899.short
4100  - https://publications.ersnet.org//content/53/1/1801899.full
SO  - Eur Respir J2019 Jan 01; 53
AB  - Since 2000 there have been major advances in our understanding of the genetic and genomics of pulmonary arterial hypertension (PAH), although there remains much to discover. Based on existing knowledge, around 25–30% of patients diagnosed with idiopathic PAH have an underlying Mendelian genetic cause for their condition and should be classified as heritable PAH (HPAH). Here, we summarise the known genetic and genomic drivers of PAH, the insights these provide into pathobiology, and the opportunities afforded for development of novel therapeutic approaches. In addition, factors determining the incomplete penetrance observed in HPAH are discussed. The currently available approaches to genetic testing and counselling, and the impact of a genetic diagnosis on clinical management of the patient with PAH, are presented. Advances in DNA sequencing technology are rapidly expanding our ability to undertake genomic studies at scale in large cohorts. In the future, such studies will provide a more complete picture of the genetic contribution to PAH and, potentially, a molecular classification of this disease.State of the art and research perspectives in genetics and genomics of pulmonary hypertension and insights into pathobiology http://ow.ly/dkkq30mgDo2