SynthesisHigh altitude medicine & biology2014
Genetic variation in SENP1 and ANP32D as predictors of chronic mountain sickness.
Synthesis in High altitude medicine & biology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 32 citations in OpenAlex.
- Altitude hypoxia and hypoxemia: pathogenesis and management.Signal transduction and targeted therapy · 2026Review
- Life destiny of erythrocyte in high altitude erythrocytosis: mechanisms underlying the progression from physiological (moderate) to pathological (excessive) high-altitude erythrocytosis.Frontiers in genetics · 2025Review
- Altitude illnesses.Nature reviews. Disease primers · 2024Review
- Modern medical services, a double-edged sword manages symptoms, but accumulates genetic background of cardiovascular diseases: A cross populational analysis of 217 countries.Health science reports · 2024Article
- Preserved peak exercise capacity in Andean highlanders with excessive erythrocytosis both before and after isovolumic hemodilution.Journal of applied physiology (Bethesda, Md. : 1985) · 2023Article
- High-Altitude Erythrocytosis: Mechanisms of Adaptive and Maladaptive Responses.Physiology (Bethesda, Md.) · 2022Review
- Protective role of estrogen against excessive erythrocytosis in Monge's disease.Experimental & molecular medicine · 2021Article
- Turning the Oxygen Dial: Balancing the Highs and Lows.Trends in cell biology · 2020Review
- Review
- An Aptitude for Altitude: Are Epigenomic Processes Involved?Frontiers in physiology · 2019Review
- New Insights into the Genetic Basis of Monge's Disease and Adaptation to High-Altitude.Molecular biology and evolution · 2017Article
- Natural Selection on Genes Related to Cardiovascular Health in High-Altitude Adapted Andeans.American journal of human genetics · 2017Article
- Measuring high-altitude adaptation.Journal of applied physiology (Bethesda, Md. : 1985) · 2017Review
- Reduced CardiacCirculation. Cardiovascular genetics · 2017Article
- Senp1 drives hypoxia-induced polycythemia via GATA1 and Bcl-xL in subjects with Monge's disease.The Journal of experimental medicine · 2016Article
- Chronic Mountain Sickness: Clinical Aspects, Etiology, Management, and Treatment.High altitude medicine & biology · 2016Review
- SENP1, but not fetal hemoglobin, differentiates Andean highlanders with chronic mountain sickness from healthy individuals among Andean highlanders.Experimental hematology · 2016Article
- New genetic and physiological factors for excessive erythrocytosis and Chronic Mountain Sickness.Journal of applied physiology (Bethesda, Md. : 1985) · 2015Review
- The Local HIF-2α/EPO Pathway in the Bone Marrow is Associated with Excessive Erythrocytosis and the Increase in Bone Marrow Microvessel Density in Chronic Mountain Sickness.High altitude medicine & biology · 2015Article
- Altitude Adaptation: A Glimpse Through Various Lenses.High altitude medicine & biology · 2015Review
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Chronic mountain sickness (CMS) is a serious illness that affects life-long high-altitude residents. A recent study analyzed whole genome sequence data from residents of Cerro de Pasco (Peru) in an effort to identify the genetic basis of CMS and reported SENP1 (rs7963934) and ANP32D (rs72644851) to show signatures consistent with natural selection and protective against CMS (Zhou et al. 2013 ). We set out to replicate these observations in two Andean cohorts from Cerro de Pasco, consisting of 84 CMS cases and 91 healthy controls in total. We report evidence of association for rs7963934 (SENP1) in the combined cohorts (meta-analysis p=8.8x10(-4) OR 2.91, CI 1.56-5.5, I=0). The direction of effect was the same as in the original publication. We did not observe any significant correlation between rs72644851 (ANP32D) and the CMS phenotype, within or across cohorts (meta-analysis p=0.204, OR 1.37, CI 0.84-2.241, I=0). Our results provide independent evidence in support of a role for SENP1 in CMS in individuals of Quechua ancestry and suggest the SENP1 and ANP32D signatures of selection are in tight linkage disequilibrium (LD).
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