Genetic Risk Factors of Chronic Mountain Sickness

Gazal, S.; León-Velarde, Fabiola; Espinoza, J. R.; Marchant, D.; Richalet, J. P.; Macarlupu, J. L.; Austerlitz, F.; Gouya, L.

dc.contributor.author	Richalet, J. P.
dc.contributor.author	Gazal, S.
dc.contributor.author	Espinoza, J. R.
dc.contributor.author	Austerlitz, F.
dc.contributor.author	Macarlupu, J. L.
dc.contributor.author	León-Velarde, Fabiola
dc.contributor.author	Marchant, D.
dc.contributor.author	Gouya, L.
dc.date.accessioned	2019-01-25T16:20:59Z
dc.date.available	2019-01-25T16:20:59Z
dc.date.issued	2017
dc.identifier.uri	https://hdl.handle.net/20.500.12866/4826
dc.description.abstract	Chronic mountain sickness (CMS) is a pathological condition resulting from the loss of adaptation to high altitude. The syndrome is characterized by an excessive number of red blood cells (Excessive Erythropoiesis) associated with a high concentration of hemoglobin, hypoxemia and sometimes pulmonary hypertension. In the Peruvian Andes, the estimated prevalence of this condition is higher than 10% in the adult population living above 2500 m. The pathophysiology is not yet clearly established. Alteration of the control of ventilation, especially during sleep could induce a severe hypoxemia that would trigger excessive secretion of erythropoietin (EPO), leading to increased red cell production. We collected clinical and physiological data and blood samples in a cohort of 143 CMS patients and 101 control subjects living at high altitude in Cerro de Pasco (4300m). Leukocytes DNA was extracted by salting out procedure, DNA was quantified and qualified with NanoDrop™ 2000. We performed a genome wide association study using an Illumina HumanOmni5 array (4,301,332 SNPs). CMS was associated with low arterial O2 saturation and high body mass index. We evidenced several genes that could be related to a susceptibility to develop CMS or pulmonary hypertension (ATM, NPAT, PPARGC1A, ATP9A, WWOX). These pathways revealed as submitted to recent positive selection. Moreover, the admixture level of European low lander ancestry in the genome of this population seemed to influence the occurrence of CMS and the polymorphism of selected genes. A replication study is planned to confirm our preliminary results.	en_US
dc.language.iso	eng
dc.publisher	Wiley
dc.relation.ispartofseries	FASEB Journal
dc.rights	info:eu-repo/semantics/restrictedAccess
dc.rights.uri	https://creativecommons.org/licenses/by-nc-nd/4.0/deed.es
dc.subject	Biochemistry & Molecular Biology	en_US
dc.subject	Cell Biology	en_US
dc.subject	Life Sciences & Biomedicine - Other	en_US
dc.subject	Topics	en_US
dc.title	Genetic Risk Factors of Chronic Mountain Sickness	en_US
dc.type	info:eu-repo/semantics/article
dc.identifier.doi	https://doi.org/10.15381/anales.v26i2.9662
dc.subject.ocde	https://purl.org/pe-repo/ocde/ford#1.06.03
dc.relation.issn	1530-6860