13 May 2010 | Tatum S. Simonson, Yingzhong Yang, Chad D. Huff, Haixia Yun, Ga Qin, David J. Witherspoon, Zhenzhong Bai, Felipe R. Lorenzo, Jinchuan Xing, Lynn B. Jorde, Josef T. Prchal, RiLi Ge
The study investigates the genetic basis of high-altitude adaptation in Tibetans, who have lived at high altitudes for thousands of years and exhibit unique physiological traits such as decreased hemoglobin concentration. The researchers conducted genome-wide scans to identify regions under positive selection, focusing on genes involved in high-altitude adaptation. They identified several genes, including EGLN1 and PPARA, which are associated with the decreased hemoglobin phenotype unique to high-altitude Tibetans. These findings support previously hypothesized mechanisms of high-altitude adaptation and highlight the complexity of hypoxia response pathways in humans. The study also used randomization tests to validate the significance of the observed patterns and regression analyses to test the association between selected haplotypes and hemoglobin concentration. The results suggest that high-altitude adaptation in Tibetans is driven by local positive selection on specific genes, providing insights into the genetic basis of human adaptation to extreme environments.The study investigates the genetic basis of high-altitude adaptation in Tibetans, who have lived at high altitudes for thousands of years and exhibit unique physiological traits such as decreased hemoglobin concentration. The researchers conducted genome-wide scans to identify regions under positive selection, focusing on genes involved in high-altitude adaptation. They identified several genes, including EGLN1 and PPARA, which are associated with the decreased hemoglobin phenotype unique to high-altitude Tibetans. These findings support previously hypothesized mechanisms of high-altitude adaptation and highlight the complexity of hypoxia response pathways in humans. The study also used randomization tests to validate the significance of the observed patterns and regression analyses to test the association between selected haplotypes and hemoglobin concentration. The results suggest that high-altitude adaptation in Tibetans is driven by local positive selection on specific genes, providing insights into the genetic basis of human adaptation to extreme environments.