Genetics and genomics of pulmonary arterial hypertension

Journal of the American College of Cardiology
Florent SoubrierMarc Humbert

Abstract

Major discoveries have been obtained within the last decade in the field of hereditary predisposition to pulmonary arterial hypertension (PAH). Among them, the identification of bone morphogenetic protein receptor type 2 (BMPR2) as the major predisposing gene and activin A receptor type II-like kinase-1 (ACVRL1, also known as ALK1) as the major gene when PAH is associated with hereditary hemorrhagic telangiectasia. The mutation detection rate for the known genes is approximately 75% in familial PAH, but the mutation shortfall remains unexplained even after careful molecular investigation of these genes. To identify additional genetic variants predisposing to PAH, investigators harnessed the power of next-generation sequencing to successfully identify additional genes that will be described in this report. Furthermore, common genetic predisposing factors for PAH can be identified by genome-wide association studies and are detailed in this paper. The careful study of families and routine genetic diagnosis facilitated natural history studies based on large registries of PAH patients to be set up in different countries. These longitudinal or cross-sectional studies permitted the clinical characterization of PAH in mutation carriers...Continue Reading

References

Jul 1, 1989·British Heart Journal·A TinkerJ Schofield
Dec 16, 1998·American Journal of Respiratory and Critical Care Medicine·R M TuderN F Voelkel
Nov 26, 2002·American Journal of Respiratory and Critical Care Medicine·James R RunoJohn A Phillips
Mar 31, 2004·Journal of Molecular Biology·Ivan V GregorettiHolly V Goodson
Jun 25, 2004·American Journal of Respiratory and Critical Care Medicine·Todd M BullMark W Geraci
Aug 25, 2004·American Journal of Medical Genetics. Part a·Millan S PatelDerek G Human
Sep 17, 2004·American Journal of Medical Genetics. Part a·Anthony Joseph PiazzaAugusto Sola
May 18, 2005·FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology·Seiichiro SakaoNorbert F Voelkel
Apr 1, 2006·Circulation Research·Andrea OlschewskiHorst Olschewski
May 24, 2006·Circulation·C Gregory ElliottKenneth Ward
Jan 18, 2007·Proceedings of the National Academy of Sciences of the United States of America·Weiling XuSerpil C Erzurum
Apr 18, 2007·The American Journal of Cardiology·Peter J EngelMark Scott
May 29, 2007·American Journal of Physiology. Lung Cellular and Molecular Physiology·Fares A MasriSerpil C Erzurum
Jul 13, 2007·Molecular Systems Biology·Joseph LoscalzoAlbert-Laszlo Barabasi
Jan 30, 2008·The Journal of Experimental Medicine·Eleen DaleyGabriele Grunig
Feb 20, 2008·Annals of Internal Medicine·John H NewmanJames E Loyd
Mar 22, 2008·American Journal of Respiratory and Critical Care Medicine·Benjamin SztrymfMarc Humbert
Jun 17, 2008·American Journal of Respiratory and Critical Care Medicine·Pradeep R RaiNorbert F Voelkel
Nov 21, 2008·European Journal of Human Genetics : EJHG·Simon C HeathMark Lathrop
Jan 2, 2009·The European Respiratory Journal·D MontaniM Humbert
Feb 13, 2009·Journal of Medical Genetics·M ShintaniR Matsuoka
May 8, 2009·Human Molecular Genetics·Zheng HuangJames F Martin
Jul 9, 2009·Journal of the American College of Cardiology·Rajiv D MachadoWendy K Chung
Jan 9, 2010·American Journal of Respiratory and Critical Care Medicine·Barbara GirerdMarc Humbert
Jan 19, 2010·American Journal of Physiology. Heart and Circulatory Physiology·Revathi RajkumarFerhaan Ahmad
Apr 23, 2010·Pediatric Cardiology·Mohammed H AlghamdiGeorge G S Sandor
Jun 5, 2010·American Journal of Respiratory and Critical Care Medicine·Matthias HeckerRory E Morty

❮ Previous
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Citations

Sep 14, 2014·Heart Failure Clinics·Kishan S ParikhMona Fiuzat
Dec 10, 2014·American Journal of Respiratory and Critical Care Medicine·Rachel DamicoPaul M Hassoun
Feb 20, 2016·International Journal of Cardiology·Juan GómezEliecer Coto
Jan 23, 2016·The Lancet. Respiratory Medicine·Jonathan D W EvansNicholas W Morrell
Dec 2, 2015·American Journal of Respiratory and Critical Care Medicine·Eric D Austin, James E Loyd
May 9, 2015·Journal of the American College of Cardiology·Vallerie V McLaughlinMarc Humbert
Jan 23, 2015·Annals of Human Genetics·Yuichi MomoseShinobu Gamou
Sep 17, 2015·Protein & Cell·Jianhua Xiong
Mar 16, 2016·The Lancet. Respiratory Medicine·Marius M HoeperJ Simon R Gibbs
Dec 3, 2014·The Journal of Heart and Lung Transplantation : the Official Publication of the International Society for Heart Transplantation·Hidekazu MaruyamaLaurence Dewachter
May 24, 2014·Heart·Marlieke L A Haeck, Hubert W Vliegen
Aug 8, 2015·Molecular Genetics & Genomic Medicine·Sanna VattulainenSamuel Myllykangas
Apr 16, 2016·American Journal of Respiratory and Critical Care Medicine·Ivana Nikolic, Paul B Yu
Apr 3, 2014·Oxidative Medicine and Cellular Longevity·Yonggang WangLu Cai
Apr 29, 2015·American Journal of Respiratory and Critical Care Medicine·Chiara FedericiMicheala A Aldred
Jan 22, 2015·Orphanet Journal of Rare Diseases·Guillermo PousadaDiana Valverde
Jan 19, 2016·Global Cardiology Science & Practice·A M ChakrabartiS J Wort
Dec 21, 2013·Journal of the American College of Cardiology·Nazzareno Galiè, Gerald Simonneau
Mar 15, 2015·American Journal of Respiratory and Critical Care Medicine·Sunit Singla, Roberto F Machado
Nov 26, 2014·Nature Reviews. Cardiology·Edmund M T LauDavid S Celermajer
Feb 13, 2015·Frontiers in Genetics·Jamie McDonaldPinar Bayrak-Toydemir
Aug 16, 2014·La Presse médicale·Marc Humbert
Jul 5, 2016·American Journal of Medical Genetics. Part a·Hiroyuki FukushimaKenjiro Kosaki
Aug 30, 2016·International Journal of Pharmaceutics·Zimeng WangSamantha A Meenach
Sep 7, 2016·Archives of Cardiovascular Diseases·Diana Santos-RibeiroCarmen Brás-Silva
Aug 21, 2016·Biochimica Et Biophysica Acta·Devi ThiagarajanRavichandran Ramasamy
Oct 1, 2016·American Journal of Respiratory and Critical Care Medicine·Steven H AbmanUNKNOWN AHA/ATS Joint Guidelines for Pediatric Pulmonary Hypertension Committee
Oct 27, 2016·Revista Española De Cardiología·Mélanie Eyries, Florent Soubrier
Nov 1, 2016·American Journal of Respiratory and Critical Care Medicine·Beth L Roman, Cynthia St Hilaire
Nov 7, 2016·Pflügers Archiv : European journal of physiology·Leanda VengethasamyRozenn Quarck

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