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Genetic adaptation to high altitude in the Ethiopian highlands
BACKGROUND: Genomic analysis of high-altitude populations residing in the Andes and Tibet has revealed several candidate loci for involvement in high-altitude adaptation, a subset of which have also been shown to be associated with hemoglobin levels, including EPAS1, EGLN1, and PPARA, which play a r...
Autores principales: | , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2012
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3334582/ https://www.ncbi.nlm.nih.gov/pubmed/22264333 http://dx.doi.org/10.1186/gb-2012-13-1-r1 |
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author | Scheinfeldt, Laura B Soi, Sameer Thompson, Simon Ranciaro, Alessia Woldemeskel, Dawit Beggs, William Lambert, Charla Jarvis, Joseph P Abate, Dawit Belay, Gurja Tishkoff, Sarah A |
author_facet | Scheinfeldt, Laura B Soi, Sameer Thompson, Simon Ranciaro, Alessia Woldemeskel, Dawit Beggs, William Lambert, Charla Jarvis, Joseph P Abate, Dawit Belay, Gurja Tishkoff, Sarah A |
author_sort | Scheinfeldt, Laura B |
collection | PubMed |
description | BACKGROUND: Genomic analysis of high-altitude populations residing in the Andes and Tibet has revealed several candidate loci for involvement in high-altitude adaptation, a subset of which have also been shown to be associated with hemoglobin levels, including EPAS1, EGLN1, and PPARA, which play a role in the HIF-1 pathway. Here, we have extended this work to high- and low-altitude populations living in Ethiopia, for which we have measured hemoglobin levels. We genotyped the Illumina 1M SNP array and employed several genome-wide scans for selection and targeted association with hemoglobin levels to identify genes that play a role in adaptation to high altitude. RESULTS: We have identified a set of candidate genes for positive selection in our high-altitude population sample, demonstrated significantly different hemoglobin levels between high- and low-altitude Ethiopians and have identified a subset of candidate genes for selection, several of which also show suggestive associations with hemoglobin levels. CONCLUSIONS: We highlight several candidate genes for involvement in high-altitude adaptation in Ethiopia, including CBARA1, VAV3, ARNT2 and THRB. Although most of these genes have not been identified in previous studies of high-altitude Tibetan or Andean population samples, two of these genes (THRB and ARNT2) play a role in the HIF-1 pathway, a pathway implicated in previous work reported in Tibetan and Andean studies. These combined results suggest that adaptation to high altitude arose independently due to convergent evolution in high-altitude Amhara populations in Ethiopia. |
format | Online Article Text |
id | pubmed-3334582 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2012 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-33345822012-04-25 Genetic adaptation to high altitude in the Ethiopian highlands Scheinfeldt, Laura B Soi, Sameer Thompson, Simon Ranciaro, Alessia Woldemeskel, Dawit Beggs, William Lambert, Charla Jarvis, Joseph P Abate, Dawit Belay, Gurja Tishkoff, Sarah A Genome Biol Research BACKGROUND: Genomic analysis of high-altitude populations residing in the Andes and Tibet has revealed several candidate loci for involvement in high-altitude adaptation, a subset of which have also been shown to be associated with hemoglobin levels, including EPAS1, EGLN1, and PPARA, which play a role in the HIF-1 pathway. Here, we have extended this work to high- and low-altitude populations living in Ethiopia, for which we have measured hemoglobin levels. We genotyped the Illumina 1M SNP array and employed several genome-wide scans for selection and targeted association with hemoglobin levels to identify genes that play a role in adaptation to high altitude. RESULTS: We have identified a set of candidate genes for positive selection in our high-altitude population sample, demonstrated significantly different hemoglobin levels between high- and low-altitude Ethiopians and have identified a subset of candidate genes for selection, several of which also show suggestive associations with hemoglobin levels. CONCLUSIONS: We highlight several candidate genes for involvement in high-altitude adaptation in Ethiopia, including CBARA1, VAV3, ARNT2 and THRB. Although most of these genes have not been identified in previous studies of high-altitude Tibetan or Andean population samples, two of these genes (THRB and ARNT2) play a role in the HIF-1 pathway, a pathway implicated in previous work reported in Tibetan and Andean studies. These combined results suggest that adaptation to high altitude arose independently due to convergent evolution in high-altitude Amhara populations in Ethiopia. BioMed Central 2012 2012-01-20 /pmc/articles/PMC3334582/ /pubmed/22264333 http://dx.doi.org/10.1186/gb-2012-13-1-r1 Text en Copyright ©2012 Scheinfeldt et al.; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an open access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Research Scheinfeldt, Laura B Soi, Sameer Thompson, Simon Ranciaro, Alessia Woldemeskel, Dawit Beggs, William Lambert, Charla Jarvis, Joseph P Abate, Dawit Belay, Gurja Tishkoff, Sarah A Genetic adaptation to high altitude in the Ethiopian highlands |
title | Genetic adaptation to high altitude in the Ethiopian highlands |
title_full | Genetic adaptation to high altitude in the Ethiopian highlands |
title_fullStr | Genetic adaptation to high altitude in the Ethiopian highlands |
title_full_unstemmed | Genetic adaptation to high altitude in the Ethiopian highlands |
title_short | Genetic adaptation to high altitude in the Ethiopian highlands |
title_sort | genetic adaptation to high altitude in the ethiopian highlands |
topic | Research |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3334582/ https://www.ncbi.nlm.nih.gov/pubmed/22264333 http://dx.doi.org/10.1186/gb-2012-13-1-r1 |
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