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Genetic adaptation to high altitude in the Ethiopian highlands

Laura B Scheinfeldt1, Sameer Soi1, Simon Thompson1, Alessia Ranciaro1, Dawit Woldemeskel2, William Beggs1, Charla Lambert13, Joseph P Jarvis1, Dawit Abate2, Gurja Belay2 and Sarah A Tishkoff14*

Author Affiliations

1 Department of Genetics, University of Pennsylvania, 415 Curie Boulevard, Philadelphia, PA 19104, USA

2 Department of Biology, Addis Ababa University, PO Box 1176, Addis Ababa, Ethiopia

3 Cold Spring Harbor Laboratory, 1 Bungtown Road, Cold Spring Harbor, NY 11724, USA

4 Department of Biology, University of Pennsylvania, 433 S. University Avenue, Philadelphia, PA 19104, USA

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Genome Biology 2012, 13:R1  doi:10.1186/gb-2012-13-1-r1

Published: 20 January 2012

Abstract

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.