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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dbGaP study = phs000647

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Versions (1)

1. 11/23/22 11/23/22 - Simon Heim

Copyright Holder

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

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November 23, 2022

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