ID
45416
Description
Principal Investigator: Gabriel G. Haddad, MD, Department of Pediatrics, Division of Respiratory Medicine; Department of Neurosciences; University of California San Diego, La Jolla; Rady Children's Hospital, San Diego, CA, USA MeSH: Cell Hypoxia https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000647 Although it has long been proposed that genetic factors contribute to adaptation to high altitude, such factors remain largely unverified. Recent advances in high-throughput sequencing have made it feasible to analyze genome-wide patterns of genetic variation in human populations. Since traditionally such studies surveyed only a small fraction of the genome (either exons or a subset of SNPs) or a group of candidate genes, interpretation of the results was limited. We focused our study on Ethiopian highlander populations, which have been found to be well adapted to high altitudes (~3500m). We sequenced and analyze the genomes of 13 high altitude native Ethiopians: 6 individuals of Oromo heritage living on Bale Plateau (labeled "Oromos"), and 7 individuals residing on the Chennek field in the Simien Mountains (labeled "Amhara"). Our study revealed evolutionarily conserved genes that modulate hypoxia tolerance.
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- 23/11/2022 23/11/2022 - Simon Heim
Détendeur de droits
Gabriel G. Haddad, MD, Department of Pediatrics, Division of Respiratory Medicine; Department of Neurosciences; University of California San Diego, La Jolla; Rady Children's Hospital, San Diego, CA, USA
Téléchargé le
23 novembre 2022
DOI
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Licence
Creative Commons BY 4.0
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dbGaP phs000647 Study of Adaptation to Hypoxia in Ethiopian Highlanders
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Eligibility Criteria
C0680251 (UMLS CUI [1,2])
C0337825 (UMLS CUI [1,2])
C0239304 (UMLS CUI [1,3])
C0274294 (UMLS CUI [1,4])
C0449820 (UMLS CUI [1,5])