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The genetic architecture of chronic mountain sickness in Peru

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dc.contributor.author Gazal, Steven
dc.contributor.author Espinoza, Jose R.
dc.contributor.author Austerlitz, Frederic
dc.contributor.author Marchant, Dominique
dc.contributor.author Macarlupu, Jose Luis
dc.contributor.author Rodriguez, Jorge
dc.contributor.author Ju-Preciado, Hugo
dc.contributor.author Rivera-Chira, Maria
dc.contributor.author Hermine, Olivier
dc.contributor.author Leon-Velarde, Fabiola
dc.contributor.author Villafuerte, Francisco C.
dc.contributor.author Richalet, Jean-Paul
dc.contributor.author Gouya, Laurent
dc.date.accessioned 2019-12-06T20:57:51Z
dc.date.available 2019-12-06T20:57:51Z
dc.date.issued 2019
dc.identifier.uri https://hdl.handle.net/20.500.12866/7451
dc.description.abstract Chronic mountain sickness (CMS) is a pathological condition resulting from chronic exposure to high-altitude hypoxia. While its prevalence is high in native Andeans (>10%), little is known about the genetic architecture of this disease. Here, we performed the largest genome-wide association study (GWAS) of CMS (166 CMS patients and 146 controls living at 4,380 m in Peru) to detect genetic variants associated with CMS. We highlighted four new candidate loci, including the first CMS-associated variant reaching GWAS statistical significance (rs7304081; P = 4.58 × 10−9). By looking at differentially expressed genes between CMS patients and controls around these four loci, we suggested AEBP2, CAST, and MCTP2 as candidate CMS causal genes. None of the candidate loci were under strong natural selection, consistent with the observation that CMS affects fitness mainly after the reproductive years. Overall, our results reveal new insights on the genetic architecture of CMS and do not provide evidence that CMS-associated variants are linked to a strong ongoing adaptation to high altitude. en_US
dc.language.iso eng
dc.publisher Frontiers Media
dc.relation.ispartof urn:issn:1664-8021
dc.rights info:eu-repo/semantics/restrictedAccess
dc.rights.uri https://creativecommons.org/licenses/by-nc-nd/4.0/deed.es
dc.subject adult en_US
dc.subject altitude disease en_US
dc.subject Article en_US
dc.subject chronic mountain sickness (CMS) en_US
dc.subject Chronic mountain sickness (CMS) en_US
dc.subject controlled study en_US
dc.subject DNA extraction en_US
dc.subject electrocardiography en_US
dc.subject female en_US
dc.subject forced expiratory volume en_US
dc.subject forced vital capacity en_US
dc.subject gene expression assay en_US
dc.subject gene frequency en_US
dc.subject gene locus en_US
dc.subject gene ontology en_US
dc.subject genetic architecture en_US
dc.subject genetic parameters en_US
dc.subject genetic variability en_US
dc.subject genome-wide association study en_US
dc.subject genotyping technique en_US
dc.subject GWAS-genome-wide association study en_US
dc.subject heart right ventricle hypertrophy en_US
dc.subject high altitude adaptation en_US
dc.subject High altitude adaptation en_US
dc.subject human en_US
dc.subject hypoxia inducible factor en_US
dc.subject major clinical study en_US
dc.subject male en_US
dc.subject middle aged en_US
dc.subject Monge's disease en_US
dc.subject multifactorial inheritance en_US
dc.subject natural selection en_US
dc.subject Natural selection en_US
dc.subject oximetry en_US
dc.subject oxygen saturation en_US
dc.subject Peru en_US
dc.subject population structure en_US
dc.subject quality control en_US
dc.subject quality of life en_US
dc.subject real time polymerase chain reaction en_US
dc.subject single nucleotide polymorphism en_US
dc.subject sphygmomanometry en_US
dc.subject spirometry en_US
dc.title The genetic architecture of chronic mountain sickness in Peru en_US
dc.type info:eu-repo/semantics/article
dc.identifier.doi https://doi.org/10.3389/fgene.2019.00690
dc.subject.ocde https://purl.org/pe-repo/ocde/ford#3.02.00 es_PE
dc.subject.ocde https://purl.org/pe-repo/ocde/ford#1.06.07

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