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Recent advanced gene-sequencing methods have facilitated the discovery of additional genes with mutations among those with and those without familial forms of PAH (\n                    <jats:italic>CAV1<\/jats:italic>\n                    ,\n                    <jats:italic>KCNK3<\/jats:italic>\n                    ,\n                    <jats:italic>EIF2AK4<\/jats:italic>\n                    ). The reduced penetrance, variable expressivity, and female predominance of PAH suggest that genetic, genomic, and other factors modify disease expression. These multi-faceted variations are an active area of investigation in the field, including but not limited to common genetic variants and epigenetic processes, and may provide novel opportunities for pharmacological intervention in the near future. They also highlight the need for a systems-oriented multi-level approach to incorporate the multitude of biological variations now associated with PAH. Ultimately, an in-depth understanding of the genetic factors relevant to PAH provides the opportunity for improved patient and family counseling about this devastating disease.\n                  <\/jats:p>","DOI":"10.1161\/circresaha.115.303404","type":"journal-article","created":{"date-parts":[[2014,6,20]],"date-time":"2014-06-20T10:52:25Z","timestamp":1403261545000},"page":"189-202","update-policy":"https:\/\/doi.org\/10.1161\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":178,"title":["The Genetics of Pulmonary Arterial Hypertension"],"prefix":"10.1161","volume":"115","author":[{"given":"Eric D.","family":"Austin","sequence":"first","affiliation":[{"name":"From the Division of Allergy, Pulmonary, and Immunology Medicine, Department of Pediatrics (E.D.A.) and Division of Allergy, Pulmonary, and Critical Care Medicine, Department of Medicine (J.E.L.), Vanderbilt University School of Medicine, Vanderbilt University Medical Center, Vanderbilt University, Nashville, TN."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James E.","family":"Loyd","sequence":"additional","affiliation":[{"name":"From the Division of Allergy, Pulmonary, and Immunology Medicine, Department of Pediatrics (E.D.A.) and Division of Allergy, Pulmonary, and Critical Care Medicine, Department of Medicine (J.E.L.), Vanderbilt University School of Medicine, Vanderbilt University Medical Center, Vanderbilt University, Nashville, TN."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"e_1_3_5_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2013.10.032"},{"key":"e_1_3_5_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2013.10.029"},{"key":"e_1_3_5_4_2","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.109.911818"},{"key":"e_1_3_5_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jneuroim.2009.06.023"},{"key":"e_1_3_5_6_2","article-title":"Survival in incident and prevalent cohorts of patients with pulmonary arterial hypertension.","author":"Humbert M","unstructured":"Humbert M, Sitbon O, Yaici A, et al.. 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