Scheinfeldt, L. B., Soi, S., Thompson, S., Ranciaro, A., Woldemeskel, D., Beggs, W., Lambert, C., Jarvis, J. P., Abate, D., Belay, G., Tishkoff, S. A. (January 2012) Genetic adaptation to high altitude in the Ethiopian highlands. Genome Biology, 13 (1). R1. ISSN 1474-7596
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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.
| Item Type: | Paper |
|---|---|
| Uncontrolled Keywords: | human genome hypoxia protein tibetan association hemoglobin selection genotypes model map |
| Subjects: | bioinformatics bioinformatics > genomics and proteomics > genetics & nucleic acid processing bioinformatics > genomics and proteomics |
| CSHL Authors: | |
| Communities: | Meetings and Courses |
| Depositing User: | Matt Covey |
| Date: | 20 January 2012 |
| Date Deposited: | 22 Jan 2013 15:51 |
| Last Modified: | 22 Jan 2013 15:51 |
| PMCID: | PMC3334582 |
| Related URLs: | |
| URI: | https://repository.cshl.edu/id/eprint/27039 |
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