Functional EPAS1 / HIF2A missense variant is associated with hematocrit in Andean highlanders.

Autor: Lawrence ES; Division of Pulmonary, Critical Care, Sleep Medicine, and Physiology, Department of Medicine, University of California, San Diego, La Jolla, CA, USA., Gu W; Division of Pulmonary, Critical Care, Sleep Medicine, and Physiology, Department of Medicine, University of California, San Diego, La Jolla, CA, USA., Bohlender RJ; Department of Epidemiology, University of Texas MD Anderson Cancer Center, Houston, TX, USA., Anza-Ramirez C; Laboratorio de Fisiología Comparada/Fisiología de del Transporte de Oxígeno-LID, Departamento de Ciencias Biológicas y Fisiológicas, Facultad de Ciencias y Filosofía, Universidad Peruana Cayetano Heredia, Lima, Perú., Cole AM; School of Pharmacy and Biomolecular Sciences, Royal College of Surgeons in Ireland, Dublin, Ireland., Yu JJ; Division of Pulmonary, Critical Care, Sleep Medicine, and Physiology, Department of Medicine, University of California, San Diego, La Jolla, CA, USA., Hu H; Department of Epidemiology, University of Texas MD Anderson Cancer Center, Houston, TX, USA., Heinrich EC; Division of Pulmonary, Critical Care, Sleep Medicine, and Physiology, Department of Medicine, University of California, San Diego, La Jolla, CA, USA.; Division of Biomedical Sciences, School of Medicine, University of California, Riverside, Riverside, CA, USA., O'Brien KA; Division of Pulmonary, Critical Care, Sleep Medicine, and Physiology, Department of Medicine, University of California, San Diego, La Jolla, CA, USA.; Department of Physiology, Development and Neuroscience, University of Cambridge, Cambridge CB2 3EG, UK., Vasquez CA; Department of Chemistry and Biochemistry, University of California, San Diego, La Jolla, CA, USA., Cowan QT; Department of Chemistry and Biochemistry, University of California, San Diego, La Jolla, CA, USA., Bruck PT; Department of Anthropology and Global Health, University of California, San Diego, La Jolla, CA, USA., Mercader K; Department of Medicine and Pharmacology, University of California, San Diego, La Jolla, CA, USA., Alotaibi M; Division of Pulmonary, Critical Care, Sleep Medicine, and Physiology, Department of Medicine, University of California, San Diego, La Jolla, CA, USA.; Department of Medicine and Pharmacology, University of California, San Diego, La Jolla, CA, USA., Long T; Department of Medicine and Pharmacology, University of California, San Diego, La Jolla, CA, USA.; Sapient Bioanalytics, LLC, San Diego, CA, USA., Hall JE; Division of Pulmonary, Critical Care, Sleep Medicine, and Physiology, Department of Medicine, University of California, San Diego, La Jolla, CA, USA., Moya EA; Division of Pulmonary, Critical Care, Sleep Medicine, and Physiology, Department of Medicine, University of California, San Diego, La Jolla, CA, USA., Bauk MA; Division of Pulmonary, Critical Care, Sleep Medicine, and Physiology, Department of Medicine, University of California, San Diego, La Jolla, CA, USA., Reeves JJ; Division of Pulmonary, Critical Care, Sleep Medicine, and Physiology, Department of Medicine, University of California, San Diego, La Jolla, CA, USA., Kong MC; Division of Pulmonary, Critical Care, Sleep Medicine, and Physiology, Department of Medicine, University of California, San Diego, La Jolla, CA, USA.; Department of Bioengineering, University of California, San Diego, La Jolla, CA, USA., Salem RM; Herbert Wertheim School of Public Health and Longevity Sciences, University of California, San Diego, La Jolla, CA, USA., Vizcardo-Galindo G; Laboratorio de Fisiología Comparada/Fisiología de del Transporte de Oxígeno-LID, Departamento de Ciencias Biológicas y Fisiológicas, Facultad de Ciencias y Filosofía, Universidad Peruana Cayetano Heredia, Lima, Perú., Macarlupu JL; Laboratorio de Fisiología Comparada/Fisiología de del Transporte de Oxígeno-LID, Departamento de Ciencias Biológicas y Fisiológicas, Facultad de Ciencias y Filosofía, Universidad Peruana Cayetano Heredia, Lima, Perú., Figueroa-Mujíca R; Laboratorio de Fisiología Comparada/Fisiología de del Transporte de Oxígeno-LID, Departamento de Ciencias Biológicas y Fisiológicas, Facultad de Ciencias y Filosofía, Universidad Peruana Cayetano Heredia, Lima, Perú., Bermudez D; Laboratorio de Fisiología Comparada/Fisiología de del Transporte de Oxígeno-LID, Departamento de Ciencias Biológicas y Fisiológicas, Facultad de Ciencias y Filosofía, Universidad Peruana Cayetano Heredia, Lima, Perú., Corante N; Laboratorio de Fisiología Comparada/Fisiología de del Transporte de Oxígeno-LID, Departamento de Ciencias Biológicas y Fisiológicas, Facultad de Ciencias y Filosofía, Universidad Peruana Cayetano Heredia, Lima, Perú., Gaio E; Laboratório de Fisiologia Respiratória, Faculdade de Medicina, Universidade de Brasília, Brasília, Brazil., Fox KP; Department of Anthropology and Global Health, University of California, San Diego, La Jolla, CA, USA., Salomaa V; Department of Public Health and Welfare, Finnish Institute for Health and Welfare, Helsinki, Finland., Havulinna AS; Department of Public Health and Welfare, Finnish Institute for Health and Welfare, Helsinki, Finland.; Institute for Molecular Medicine Finland (FIMM-HiLIFE), Helsinki, Finland., Murray AJ; Department of Physiology, Development and Neuroscience, University of Cambridge, Cambridge CB2 3EG, UK., Malhotra A; Division of Pulmonary, Critical Care, Sleep Medicine, and Physiology, Department of Medicine, University of California, San Diego, La Jolla, CA, USA., Powel FL; Division of Pulmonary, Critical Care, Sleep Medicine, and Physiology, Department of Medicine, University of California, San Diego, La Jolla, CA, USA., Jain M; Department of Medicine and Pharmacology, University of California, San Diego, La Jolla, CA, USA.; Sapient Bioanalytics, LLC, San Diego, CA, USA., Komor AC; Department of Chemistry and Biochemistry, University of California, San Diego, La Jolla, CA, USA., Cavalleri GL; School of Pharmacy and Biomolecular Sciences, Royal College of Surgeons in Ireland, Dublin, Ireland., Huff CD; Department of Epidemiology, University of Texas MD Anderson Cancer Center, Houston, TX, USA., Villafuerte FC; Laboratorio de Fisiología Comparada/Fisiología de del Transporte de Oxígeno-LID, Departamento de Ciencias Biológicas y Fisiológicas, Facultad de Ciencias y Filosofía, Universidad Peruana Cayetano Heredia, Lima, Perú., Simonson TS; Division of Pulmonary, Critical Care, Sleep Medicine, and Physiology, Department of Medicine, University of California, San Diego, La Jolla, CA, USA.

Publikováno v: Science advances [Sci Adv] 2024 Feb 09; Vol. 10 (6), pp. eadj5661. Date of Electronic Publication: 2024 Feb 09.