Chronic Mountain Sickness

León‐Velarde, Fabiola; Rivera, Maria C.; García, Patricia J.

doi:10.1007/978-1-4614-8772-2_22

Cited by 13 publications

(12 citation statements)

References 102 publications

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“…An attenuated erythropoietin and Hb concentration response to hypobaric hypoxia is a hallmark phenotype of the “Tibetan pattern” of high-altitude adaptations, which is markedly different from that of Andean highlanders [ 32 , 67 , 68 ]. The low prevalence among Tibetans of diseases associated with elevated Hb concentration, such as chronic mountain sickness [ 69 ], and a signal of selective sweep in the EPAS1 gene [ 33 , 34 ] have led to the hypothesis that unelevated Hb is adaptive in Tibetan highlanders [ 70 ]; this hypothesis was also substantiated by the correlation between low Hb and better reproductive outcomes in our Tibetan sample [ 48 ]. Our GWAS provides the first genome-level support for the association between the Tibetan EPAS1 haplotype and low oxyHb, which correlates highly with total Hb.…”

Section: Discussionmentioning

confidence: 85%

Detecting past and ongoing natural selection among ethnically Tibetan women at high altitude in Nepal

et al. 2018

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Adaptive evolution in humans has rarely been characterized for its whole set of components, i.e. selective pressure, adaptive phenotype, beneficial alleles and realized fitness differential. We combined approaches for detecting polygenic adaptations and for mapping the genetic bases of physiological and fertility phenotypes in approximately 1000 indigenous ethnically Tibetan women from Nepal, adapted to high altitude. The results of genome-wide association analyses and tests for polygenic adaptations showed evidence of positive selection for alleles associated with more pregnancies and live births and evidence of negative selection for those associated with higher offspring mortality. Lower hemoglobin level did not show clear evidence for polygenic adaptation, despite its strong association with an EPAS1 haplotype carrying selective sweep signals.

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Section: Discussionmentioning

confidence: 85%

Detecting past and ongoing natural selection among ethnically Tibetan women at high altitude in Nepal

et al. 2018

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“…Patients are likely to complain of decreased exercise tolerance and bone and joint pain, although there is controversy whether aerobic capacity is decreased in these subjects (Winslow and Monge, 1987 ; Groepenhoff et al, 2012 ). There is also a characteristic complaint of dyspnea, insomnia, dizziness, headache, paresthesias, and mental confusion (Monge, 1943 ; Winslow and Monge, 1987 ; Leon-Velarde et al, 2014 ). Moderate hemoptysis and epistaxis episodes are also common (Hurtado, 1942 ; Monge, 1942 , 1943 ).…”

Section: Common Clinical Findings and Co-morbidities In Cmsmentioning

confidence: 99%

Chronic Mountain Sickness: Clinical Aspects, Etiology, Management, and Treatment

Villafuerte

Corante

2016

High Altitude Medicine & Biology

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Villafuerte, Francisco C., and Noemí Corante. Chronic mountain sickness: clinical aspects, etiology, management, and treatment. High Alt Med Biol. 17:61–69, 2016.—Millions of people worldwide live at a high altitude, and a significant number are at risk of developing Chronic Mountain Sickness (CMS), a progressive incapacitating syndrome caused by lifelong exposure to hypoxia. CMS is characterized by severe symptomatic excessive erythrocytosis (EE; Hb ≥19 g/dL for women and Hb ≥21 g/dL for men) and accentuated hypoxemia, which are frequently associated with pulmonary hypertension. In advanced cases, the condition may evolve to cor pulmonale and congestive heart failure. Current knowledge indicates a genetic predisposition to develop CMS. However, there are important risk factors and comorbidities that may trigger and aggravate the condition. Thus, appropriate medical information on CMS is necessary to provide adequate diagnosis and healthcare to high-altitude inhabitants. After reviewing basic clinical aspects of CMS, including its definition, diagnosis, and common clinical findings, we discuss aspects of its etiology, and address its epidemiology, risk factors, and treatment.

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“…An attenuated erythropoietin and Hb concentration response to hypobaric hypoxia is a hallmark phenotype of the “Tibetan pattern” of high-altitude adaptations, which is markedly different from that of Andean highlanders [32, 71, 72]. The low prevalence among Tibetans of diseases associated with elevated Hb concentration, such as chronic mountain sickness [73], and a signal of selective sweep in the EPAS1 gene [33, 34] have led to the hypothesis that unelevated Hb is adaptive in Tibetan highlanders [62]; this hypothesis was also substantiated by the correlation between low Hb and better reproductive outcomes in our Tibetan sample [47]. Our GWAS provides the first genome-level support for the association between the Tibetan EPAS1 haplotype and low oxyHb, which correlates highly with total Hb.…”

Section: Discussionmentioning

confidence: 99%

Detecting past and ongoing natural selection among ethnically Tibetan women at high altitude in Nepal

Jeong

Witonsky

Basnyat

et al. 2017

Preprint

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19Adaptive evolution in humans has rarely been characterized for its whole set of components, i.e. 20 selective pressure, adaptive phenotype, beneficial alleles and realized fitness differential. We combined 21 approaches for detecting selective sweeps and polygenic adaptations and for mapping the genetic bases of 22 physiological and fertility phenotypes in approximately 1000 indigenous ethnically Tibetan women from 23Nepal, adapted to high altitude. We performed genome-wide association analysis and tests for polygenic 24 adaptations which showed evidence of positive selection for alleles associated with more pregnancies and 25 live births and evidence of negative selection for those associated with higher offspring mortality.

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Chronic Mountain Sickness

Cited by 13 publications

References 102 publications

Detecting past and ongoing natural selection among ethnically Tibetan women at high altitude in Nepal

Detecting past and ongoing natural selection among ethnically Tibetan women at high altitude in Nepal

Chronic Mountain Sickness: Clinical Aspects, Etiology, Management, and Treatment

Detecting past and ongoing natural selection among ethnically Tibetan women at high altitude in Nepal

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