Genetics of Pulmonary Hypertension
Study Details
Study Description
Brief Summary
Despite the developments in recent years, pulmonary arterial hypertension (PAH) is still a disease with high mortality and morbidity. Although studies on genetic background have increased, the pathogenesis of PAH remains complex and unresolved. The most comprehensive data are related to bone morphogenetic protein receptor type 2 (BMPR2), and in recent years, new responsible or candidate genes have been identified, especially by new generation DNA sequencing In this study, it was aimed to determine the genetic background of patients with PAH and to investigate the genetics of secondary PAH not only HPAH.
| Condition or Disease | Intervention/Treatment | Phase |
|---|---|---|
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Detailed Description
In our study, changes in BMPR2, SARS2, KRT8, KRT18, SMAD9, CAV1, KCKN3, CPS1, TBX4, ACVRL1, G6PC3, EIF2AK4 and ENG genes will be screened in patients with PAH. In addition to previously reported changes in the relevant genes, previously unreported changes that are likely to be significant according to insilico methods are presented.
Patients' age, gender, mean follow-up time, underlying congenital heart anomalies, 6-minute walk test (6 MWT), proBNP, catheter measurement values (mPAB, m RAB, Rp/Rs, PVR), vasoreactivity test positivity, World health organization functional classification (WHO-FS), cardiac function measurements by echocardiography, treatments they received will be collected retrospectively.
Study Design
Outcome Measures
Primary Outcome Measures
- Genetics of Pulmonary Hypertension [baseline]
Determining the genetic background of patients with PAH and detecting genetic changes that may predispose to PAH in patients with secondary PAH other than HPAH.
Secondary Outcome Measures
- The effects of mutations of Pulmonary Hypertension on disease [baseline]
The effects of the detected mutations on the age of onset of the disease, the course of the disease and the response to treatment will be evaluated.
Eligibility Criteria
Criteria
Inclusion Criteria:
- mPAB ≥25 mmHg, pulmonary capillary wedge pressure (PCWP) ≤15 mmHg, PVR index (PVRI) ≥3 WU.m2 in right heart catheterization.
Exclusion Criteria:
- Neonatal pulmonary hypertension
Contacts and Locations
Locations
| Site | City | State | Country | Postal Code | |
|---|---|---|---|---|---|
| 1 | Gazi University School of Medicine | Ankara | Turkey | 06560 |
Sponsors and Collaborators
- Gazi University
- ADHAD
Investigators
None specified.Study Documents (Full-Text)
None provided.More Information
Publications
- Deng Z, Morse JH, Slager SL, Cuervo N, Moore KJ, Venetos G, Kalachikov S, Cayanis E, Fischer SG, Barst RJ, Hodge SE, Knowles JA. Familial primary pulmonary hypertension (gene PPH1) is caused by mutations in the bone morphogenetic protein receptor-II gene. Am J Hum Genet. 2000 Sep;67(3):737-44. doi: 10.1086/303059. Epub 2000 Jul 20.
- Girerd B, Montani D, Eyries M, Yaici A, Sztrymf B, Coulet F, Sitbon O, Simonneau G, Soubrier F, Humbert M. Absence of influence of gender and BMPR2 mutation type on clinical phenotypes of pulmonary arterial hypertension. Respir Res. 2010 Jun 10;11(1):73. doi: 10.1186/1465-9921-11-73.
- Gurney AM, Osipenko ON, MacMillan D, McFarlane KM, Tate RJ, Kempsill FE. Two-pore domain K channel, TASK-1, in pulmonary artery smooth muscle cells. Circ Res. 2003 Nov 14;93(10):957-64. doi: 10.1161/01.RES.0000099883.68414.61. Epub 2003 Oct 9.
- Ma L, Roman-Campos D, Austin ED, Eyries M, Sampson KS, Soubrier F, Germain M, Tregouet DA, Borczuk A, Rosenzweig EB, Girerd B, Montani D, Humbert M, Loyd JE, Kass RS, Chung WK. A novel channelopathy in pulmonary arterial hypertension. N Engl J Med. 2013 Jul 25;369(4):351-361. doi: 10.1056/NEJMoa1211097.
- Machado RD, Eickelberg O, Elliott CG, Geraci MW, Hanaoka M, Loyd JE, Newman JH, Phillips JA 3rd, Soubrier F, Trembath RC, Chung WK. Genetics and genomics of pulmonary arterial hypertension. J Am Coll Cardiol. 2009 Jun 30;54(1 Suppl):S32-S42. doi: 10.1016/j.jacc.2009.04.015.
- gazi23.12.2019/276