Genetics of High-Altitude Pulmonary Edema

Bärtsch P. Mairbäurl H. Swenson E.R. et al.

High altitude pulmonary oedema.

Swiss Med Wkly. 2003; 133: 377-384View in Article Google ScholarGrünig E. Mereles D. Hildebrandt W. et al.

Stress Doppler echocardiography for identification of susceptibility to high altitude pulmonary edema.

J Am Coll Cardiol. 2000; 35: 980-987View in Article Google ScholarBärtsch P. Swenson E.R.

Clinical practice: acute high-altitude illnesses.

N Engl J Med. 2013; 368: 2294-2302View in Article Google ScholarHöschele S. Mairbäurl H.

Alveolar flooding at high altitude: failure of reabsorption?.

News Physiol Sci. 2003; 18: 55-59View in Article Google ScholarLichtblau M. Bader P.R. Carta A.F. et al.

Extravascular lung water and cardiac function assessed by echocardiography in healthy lowlanders during repeated very high-altitude exposure.

Int J Cardiol. 2021; 332: 166-174View in Article Google ScholarSwenson E.R. Maggiorini M. Mongovin S. et al.

Pathogenesis of high-altitude pulmonary edema: inflammation is not an etiologic factor.

JAMA. 2002; 287: 2228-2235View in Article Google ScholarLuks A.M. Swenson E.R. Bärtsch P.

Acute high-altitude sickness.

Eur Respir Rev. 2017; 26View in Article Google ScholarSingh I. Kapila C.C. Kahanna P.K. et al.

High-altitude pulmonary oedema.

Lancet. 1965; 1: 229-234View in Article Google ScholarGrünig E. Weissmann S. Ehlken N. et al.

Stress Doppler echocardiography in relatives of patients with idiopathic and familial pulmonary arterial hypertension: results of a multicenter European analysis of pulmonary artery pressure response to exercise and hypoxia.

Circulation. 2009; 119: 1747-1757View in Article Google ScholarRoach J.M. Schoene R.B.

High-altitude pulmonary edema.

in: Pandoff K.B. Burr R.E. Medical aspects of harsh environments. 1st edition. Defense Technical Information Center, Ft. Belvoir2002: 789-814View in Article Google ScholarLuks A.M. Auerbach P.S. Freer L. et al.

Wilderness medical society clinical practice guidelines for the prevention and treatment of acute altitude illness: 2019 update.

Wilderness Environ Med. 2019; 30: S3-S18View in Article Google ScholarHouston C.S. Harris D.E. Zeman E.J.

Going higher: oxygen, man and mountains.

5th edition. The Mountaineers Books, Seattle2005: 318View in Article Google ScholarGray G.W.

High altitude pulmonary edema.

Semin Respir Med. 1983; 5: 141-150View in Article Google ScholarEichstaedt C.A. Mairbäurl H. Song J. et al.

Genetic predisposition to high-altitude pulmonary edema.

High Alt Med Biol. 2020; 21: 28-36View in Article Google ScholarEbert-Santos C.

High-altitude pulmonary edema in mountain community residents.

High Alt Med Biol. 2017; 18: 278-284View in Article Google ScholarGiesenhagen A.M. Ivy D.D. Brinton J.T. et al.

High altitude pulmonary edema in children: a single referral center evaluation.

J Pediatr. 2019; 210: 106-111View in Article Google ScholarKelly T.D. Meier M. Weinman J.P. et al.

High-altitude pulmonary edema in colorado children: a cross-sectional survey and retrospective review.

High Alt Med Biol. 2022; 23: 119-124View in Article Google ScholarBärtsch P. Grünig E. Hohenhaus E. et al.

Assessment of high altitude tolerance in healthy individuals.

High Alt Med Biol. 2001; 2: 287-296View in Article Google ScholarDehnert C. Grünig E. Mereles D. et al.

Identification of individuals susceptible to high-altitude pulmonary oedema at low altitude.

Eur Respir J. 2005; 25: 545-551View in Article Google ScholarDehnert C. Mereles D. Greiner S. et al.

Exaggerated hypoxic pulmonary vasoconstriction without susceptibility to high altitude pulmonary edema.

High Alt Med Biol. 2015; 16: 11-17View in Article Google ScholarBusch T. Bärtsch P. Pappert D. et al.

Hypoxia decreases exhaled nitric oxide in mountaineers susceptible to high-altitude pulmonary edema.

Am J Respir Crit Care Med. 2001; 163: 368-373View in Article Google ScholarEichstaedt C.A. Sassmannshausen Z. Shaukat M. et al.

Gene panel diagnostics reveals new pathogenic variants in pulmonary arterial hypertension.

Respir Res. 2022; 23: 74View in Article Google ScholarPfarr N. Szamalek-Hoegel J. Fischer C. et al.

Hemodynamic and clinical onset in patients with hereditary pulmonary arterial hypertension and BMPR2 mutations.

Respir Res. 2011; 12: 99View in Article Google ScholarGrünig E. Dehnert C. Mereles D. et al.

Enhanced hypoxic pulmonary vasoconstriction in families of adults or children with idiopathic pulmonary arterial hypertension.

Chest. 2005; 128: 630S-633SView in Article Google ScholarBrill A.K. Kunz A. Ott S.R. et al.

When "high" is not very high: high altitude pulmonary edema as first manifestation of sarcoidosis-related pulmonary hypertension.

High Alt Med Biol. 2012; 13: 285-287View in Article Google ScholarCorvinus C. Bärtsch P. Dehnert C. et al.

Pulmonary hypertension in a patient with Abt-Letterer-Siwe syndrome and episodes of HAPE.

Eur Respir J. 2010; 36: 1212-1214View in Article Google ScholarNaeije R. De Backer D. Vachiery J.L. et al.

High-altitude pulmonary edema with primary pulmonary hypertension.

Chest. 1996; 110: 286-289View in Article Google ScholarBärtsch P. Maggiorini M. Mairbäurl H. et al.

Pulmonary extravascular fluid accumulation in climbers.

Lancet. 2002; 360 ([author reply: 571-2]): 571View in Article Google ScholarLorenzo V.F. Yang Y. Simonson T.S. et al.

Genetic adaptation to extreme hypoxia: study of high-altitude pulmonary edema in a three-generation Han Chinese family.

Blood Cells Mol Dis. 2009; 43: 221-225View in Article Google ScholarBaniya S. Holden C. Basnyat B.

Reentry High Altitude Pulmonary Edema in the Himalayas.

High Alt Med Biol. 2017; 18: 425-427View in Article Google ScholarWu T.

A Tibetan with chronic mountain sickness followed by high altitude pulmonary edema on reentry.

High Alt Med Biol. 2004; 5: 190-194View in Article Google ScholarHultgren H.N. Marticorena E.A.

High altitude pulmonary edema. Epidemiologic observations in Peru.

Chest. 1978; 74: 372-376View in Article Google ScholarGrünig E. Janssen B. Mereles D. et al.

Abnormal pulmonary artery pressure response in asymptomatic carriers of primary pulmonary hypertension gene.

Circulation. 2000; 102: 1145-1150View in Article Google ScholarRichards S. Aziz N. Bale S. et al.

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Genet Med. 2015; 17: 405-424View in Article Google ScholarAhsan A. Mohd G. Norboo T. et al.

Heterozygotes of NOS3 polymorphisms contribute to reduced nitrogen oxides in high-altitude pulmonary edema.

Chest. 2006; 130: 1511-1519View in Article Google ScholarMishra A. Kohli S. Dua S. et al.

Genetic differences and aberrant methylation in the apelin system predict the risk of high-altitude pulmonary edema.

Proc Natl Acad Sci U S A. 2015; 112: 6134-6139View in Article Google ScholarStobdan T. Ali Z. Khan A.P. et al.

Polymorphisms of renin-angiotensin system genes as a risk factor for high-altitude pulmonary oedema.

J Renin Angiotensin Aldosterone Syst. 2011; 12: 93-101View in Article Google ScholarBhagi S. Srivastava S. Tomar A. et al.

Positive Association of D Allele of ACE Gene With High Altitude Pulmonary Edema in Indian Population.

Wilderness Environ Med. 2015; 26: 124-132View in Article Google ScholarDehnert C. Weymann J. Montgomery H.E. et al.

No association between high-altitude tolerance and the ACE I/D gene polymorphism.

Med Sci Sports Exerc. 2002; 34: 1928-1933View in Article Google ScholarHotta J. Hanaoka M. Droma Y. et al.

Polymorphisms of renin-angiotensin system genes with high-altitude pulmonary edema in Japanese subjects.

Chest. 2004; 126: 825-830View in Article Google ScholarSi L. Wang H. Jiang Y. et al.

MIR17HG polymorphisms contribute to high-altitude pulmonary edema susceptibility in the Chinese population.

Sci Rep. 2022; 12: 4346View in Article Google ScholarRong H. He X. Zhu L. et al.

Association between regulator of telomere elongation helicase1 (RTEL1) gene and HAPE risk: a case-control study.

Medicine (Baltimore). 2017; 96: e8222View in Article Google ScholarHe X. Wang L. Zhu L. et al.

A case-control study of the genetic polymorphism of IL6 and HAPE risk in a Chinese Han population.

Clin Respir J. 2018; 12: 2419-2425View in Article Google ScholarKanipakam H. Sharma K. Thinlas T. et al.

Structural and functional alterations of nitric oxide synthase 3 due to missense variants associate with high-altitude pulmonary edema through dynamic study.

J Biomol Struct Dyn. 2021; 39: 294-309View in Article Google ScholarLi X. Jin T. Zhang M. et al.

Genome-wide association study of high-altitude pulmonary edema in a Han Chinese population.

Oncotarget. 2017; 8: 31568-31580View in Article Google ScholarDuan R.F. Liu W. Long C.L. et al.

[Genome-wide association study of high altitude pulmonary edema].

Zhongguo Ying Yong Sheng Li Xue Za Zhi. 2014; 30: 101-105View in Article Google ScholarYang J. Li X. Al-Lamki R.S. et al.

Sildenafil potentiates bone morphogenetic protein signaling in pulmonary arterial smooth muscle cells and in experimental pulmonary hypertension.

Arterioscler Thromb Vasc Biol. 2013; 33: 34-42View in Article Google ScholarWang Y. Huang X. Peng F. et al.

Association of variants m.T16172C and m.T16519C in whole mtDNA sequences with high altitude pulmonary edema in Han Chinese lowlanders.

BMC Pulm Med. 2022; 22: 72View in Article Google ScholarSharma K. Mishra A. Singh H.N. et al.

High-altitude pulmonary edema is aggravated by risk loci and associated transcription factors in HIF-prolyl hydroxylases.

Hum Mol Genet. 2021; 30: 1734-1749View in Article Google ScholarSimonson T.S. Yang Y. Huff C.D. et al.

Genetic evidence for high-altitude adaptation in Tibet.

Science. 2010; 329: 72-75View in Article Google ScholarLorenzo F.R. Huff C. Myllymaki M. et al.

A genetic mechanism for Tibetan high-altitude adaptation.

Nat Genet. 2014; 46: 951-956View in Article Google ScholarEichstaedt C.A. Pagani L. Antao T. et al.

Evidence of Early-Stage Selection on EPAS1 and GPR126 Genes in Andean High Altitude Populations.

Scientific Rep. 2017; 7: 13042View in Article Google ScholarSong J. Eichstaedt C.A. Rodríguez Viales R. et al.

Identification of genetic defects in pulmonary arterial hypertension by a new gene panel diagnostic tool.

Clin Sci (London, Engl : 1979). 2016; 130: 2043-2052View in Article Google ScholarYuhong L. Tana W. Zhengzhong B. et al.

Transcriptomic profiling reveals gene expression kinetics in patients with hypoxia and high altitude pulmonary edema.

Gene. 2018; 651: 200-205View in Article Google Schol

Comments (0)

No login
gif