Whole-Genome Sequencing Uncovers the Genetic Basis of Chronic Mountain Sickness in Andean Highlanders
نویسندگان
چکیده
منابع مشابه
The genetic basis of chronic mountain sickness.
Chronic mountain sickness (CMS) is a disease that affects many high-altitude dwellers, particularly in the Andean Mountains in South America. The hallmark symptom of CMS is polycythemia, which causes increased risk of pulmonary hypertension and stroke (among other symptoms). A prevailing hypothesis in high-altitude medicine is that CMS results from a population-specific "maladaptation" to the h...
متن کاملTitle : Plasma soluble erythropoietin receptor is decreased during sleep in Andean 1 highlanders with Chronic Mountain Sickness
Corresponding Author: 14 Francisco C. Villafuerte 15 Laboratorio de Fisiología Comparada. 16 Departamento de Ciencias Biológicas y Fisiológicas. 17 Facultad de Ciencias y Filosofía. 18 Universidad Peruana Cayetano Heredia. 19 Av. Honorio Delgado 430. Lima 31. PERU 20 Tel/Fax: +51-1-3190000 Ext. 2421 21 E-mail: [email protected] 22 Articles in PresS. J Appl Physiol (April 28, 2016). ...
متن کاملGenetic association analysis of chronic mountain sickness in an Andean high-altitude population.
BACKGROUND AND OBJECTIVES Millions of people live above an altitude of 2,500 m and are at risk of chronic mountain sickness (CMS), a disorder of excessive red cell and hemoglobin production. Preferential ethnic backgrounds, familial character, and heritability studies have suggested that genetic factors make a major contribution to the pathogenesis of CMS, thus our goals were to exploit a proba...
متن کاملThe heart and pulmonary circulation at high altitudes: healthy highlanders and chronic mountain sickness.
More than 140 million people worldwide live >2500 m above sea level. Of them, 80 million live in Asia, and 35 million live in the Andean mountains. This latter region has its major population density living above 3500 m. The primary objective of the present study is to review the physiology, pathology, pathogenesis, and clinical features of the heart and pulmonary circulation in healthy highlan...
متن کاملChronic Mountain Sickness
Introduction Chronic mountain sickness (CMS) affects people who are native or long time residents of high altitude. It is characterized by an excessive erythrocytosis for the altitude of residence, severe hypoxemia and in many cases, particularly in severe CMS, high altitude pulmonary hypertension (HAPH). CMS usually begins insidiously in adult life associated probably to aging; the clinical pi...
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ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 2013
ISSN: 0002-9297
DOI: 10.1016/j.ajhg.2013.07.011