ID

45416

Descripción

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.

Link

dbGaP study = phs000647

Palabras clave

  1. 23/11/22 23/11/22 - Simon Heim
Titular de derechos de autor

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

Subido en

23 de noviembre de 2022

DOI

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Licencia

Creative Commons BY 4.0

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dbGaP phs000647 Study of Adaptation to Hypoxia in Ethiopian Highlanders

Eligibility Criteria

Inclusion and exclusion criteria
Descripción

Inclusion and exclusion criteria

Alias
UMLS CUI [1,1]
C1512693
UMLS CUI [1,2]
C0680251
Oromo and Amhara Ethiopians with Chronic Mountain Sickness (CMS) score < 12.
Descripción

Elig.phs000647.v1.p1.1

Tipo de datos

boolean

Alias
UMLS CUI [1,1]
C5551780
UMLS CUI [1,2]
C0337825
UMLS CUI [1,3]
C0239304
UMLS CUI [1,4]
C0274294
UMLS CUI [1,5]
C0449820

Similar models

Eligibility Criteria

Name
Tipo
Description | Question | Decode (Coded Value)
Tipo de datos
Alias
Item Group
Inclusion and exclusion criteria
C1512693 (UMLS CUI [1,1])
C0680251 (UMLS CUI [1,2])
Elig.phs000647.v1.p1.1
Item
Oromo and Amhara Ethiopians with Chronic Mountain Sickness (CMS) score < 12.
boolean
C5551780 (UMLS CUI [1,1])
C0337825 (UMLS CUI [1,2])
C0239304 (UMLS CUI [1,3])
C0274294 (UMLS CUI [1,4])
C0449820 (UMLS CUI [1,5])

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