AUTHOR=Gazal Steven , Espinoza Jose R. , Austerlitz Frédéric , Marchant Dominique , Macarlupu Jose Luis , Rodriguez Jorge , Ju-Preciado Hugo , Rivera-Chira Maria , Hermine Olivier , Leon-Velarde Fabiola , Villafuerte Francisco C. , Richalet Jean-Paul , Gouya Laurent TITLE=The Genetic Architecture of Chronic Mountain Sickness in Peru JOURNAL=Frontiers in Genetics VOLUME=10 YEAR=2019 URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2019.00690 DOI=10.3389/fgene.2019.00690 ISSN=1664-8021 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;