ArticleEuropean journal of human genetics : EJHG2019
Novel insight into the genetic basis of high-altitude pulmonary hypertension in Kyrgyz highlanders.
Article in European journal of human genetics : EJHG, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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15 citing papers in PubMed, 21 citations in OpenAlex.
- Proteomic study of high-altitude pulmonary hypertension in the Xinjiang Pamir highlanders.BMC pulmonary medicine · 2026Article
- Hypoxic Pulmonary Hypertension: Molecular Mechanisms and Clinical Research Advances.International journal of molecular sciences · 2026Review
- Altitude hypoxia and hypoxemia: pathogenesis and management.Signal transduction and targeted therapy · 2026Review
- Mechanisms Underlying Altitude-Induced and Group 3 Pulmonary Hypertension.International journal of molecular sciences · 2026Review
- High altitude pulmonary hypertension: overlap with other types of pulmonary hypertension and implications for treatment.BMJ medicine · 2026Review
- Whole-genome analysis reveals genetic diversity and selection pressure in Sichuan donkey.BMC genomics · 2025Article
- High-altitude pulmonary hypertension: a comprehensive review of mechanisms and management.Clinical and experimental medicine · 2025Review
- Single-cell analysis of peripheral blood from high-altitude pulmonary hypertension patients identifies a distinct monocyte phenotype.Nature communications · 2023Article
- Establishing a prediction model of severe acute mountain sickness using machine learning of support vector machine recursive feature elimination.Scientific reports · 2023Article
- The Oxygen Cascade from Atmosphere to Mitochondria as a Tool to Understand the (Mal)adaptation to Hypoxia.International journal of molecular sciences · 2023Review
- Expression Profiles of circRNAs and Identification of hsa_circ_0007608 and hsa_circ_0064656 as Potential Biomarkers for COPD-PH Patients.International journal of chronic obstructive pulmonary disease · 2023Article
- Heterozygous Tropomodulin 3 mice have improved lung vascularization after chronic hypoxia.Human molecular genetics · 2022Article
- Local adaptations of Mediterranean sheep and goats through an integrative approach.Scientific reports · 2021Article
- Pulmonary hypertension: From an orphan disease to a global epidemic.Global cardiology science & practice · 2020Review
- Commentary: Novel Insight into the Genetic Basis of High Altitude Pulmonary Hypertension in Kyrgyz Highlanders.Journal of lung health and diseases · 2019Article
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12 authors at 5 institutions in 2 countries.
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Abstract
The Central Asian Kyrgyz highland population provides a unique opportunity to address genetic diversity and understand the genetic mechanisms underlying high-altitude pulmonary hypertension (HAPH). Although a significant fraction of the population is unaffected, there are susceptible individuals who display HAPH in the absence of any lung, cardiac or hematologic disease. We report herein the analysis of the whole-genome sequencing of healthy individuals compared with HAPH patients and other controls (total n = 33). Genome scans reveal selection signals in various regions, encompassing multiple genes from the first whole-genome sequences focusing on HAPH. We show here evidence of three candidate genes MTMR4, TMOD3 and VCAM1 that are functionally associated with well-known molecular and pathophysiological processes and which likely lead to HAPH in this population. These processes are (a) dysfunctional BMP signaling, (b) disrupted tissue repair processes and (c) abnormal endothelial cell function. Whole-genome sequence of well-characterized patients and controls and using multiple statistical tools uncovered novel candidate genes that belong to pathways central to the pathogenesis of HAPH. These studies on high-altitude human populations are pertinent to the understanding of sea level diseases involving hypoxia as a main element of their pathophysiology.
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