International Journal of Molecular Evolution and Biodiversity 2024, Vol.14, No.1, 10-17 http://ecoevopublisher.com/index.php/ijmeb 10 Feature Review Open Access Observing Human Evolution from High-Altitude Adaptation: Genetic Mechanisms Revealed by GWAS Xuming Lyu, Yeping Han Institute of Life Sciences, Jiyang Colloge of Zhejiang A&F University, Zhuji, 311800, Zhejiang, China Corresponding author email: liviayphan@gmail.com International Journal of Molecular Evolution and Biodiversity, 2024, Vol.14, No.1 doi: 10.5376/ijmeb.2024.14.0002 Received: 22 Nov., 2023 Accepted: 03 Jan., 2024 Published: 19 Jan., 2024 Copyright © 2024 Han and Li, This is an open access article published under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Preferred citation for this article: Lyu X.M., and Han Y.P., 2024, Observing human evolution from high-altitude adaptation: genetic mechanisms revealed by GWAS, International Journal of Molecular Evolution and Biodiversity, 14(1): 10-17 (doi: 10.5376/ijmeb.2024.14.0002) Abstract The study comprehensively explores the genetic mechanisms of human adaptation to high-altitude environments, with a focus on how genome-wide association studies (GWAS) reveal key genetic factors associated with high-altitude adaptation. The study introduces the challenges that high-altitude environments pose to human physiology and their impact on human evolution. It emphasizes the importance of studying high-altitude adaptive evolution in understanding human genetic diversity and evolutionary processes, and elaborates on the basic concepts and working principles of GWAS. Through specific case studies, such as the study of Xizang plateau residents, the achievements of GWAS in identifying key genes and biological pathways related to high-altitude adaptation are demonstrated. This study aims to enrich the understanding of human evolution and provide valuable genetic information for biomedical research, especially on how the human body responds to extreme environmental conditions such as hypoxia. Keywords High-altitude adaptability; Genome-wide association studies (GWAS); Genetic mechanisms; Human evolution; Biological pathways The environment in which humans live is extremely diverse, from hot deserts to cold polar regions, and then to high-altitude mountainous areas. Especially in high-altitude environments, human physiological functions are greatly challenged, including factors such as low oxygen, low pressure, and low temperature, which pose special requirements for the respiratory, circulatory, and metabolic systems of the human body (Jeong et al., 2014). For a long time, people living in these high-altitude areas have gradually developed a series of adaptive physiological characteristics to better cope with these extreme environments. This adaptive evolution process not only demonstrates the resilience and diversity of human biology, but also provides a unique perspective for studying human evolution. The study of high-altitude adaptive evolution can not only help us understand how humans respond to extreme environmental challenges, but also reveal the formation and evolutionary process of human genetic diversity. With the development of genomics and molecular biology technologies, especially the application of genome-wide association studies (GWAS), researchers are now able to explore and identify genetic variations that affect high-altitude adaptation at the molecular level (Cirillo et al., 2018). These studies not only enhance our understanding of human genetics and evolutionary biology, but also provide new ideas and methods for related medical research, such as the prevention and treatment of hypoxia related diseases. The aim of this study is to use GWAS technology to deeply analyze the genetic materials of populations living in high-altitude environments, identify genetic markers and pathways related to high-altitude adaptation. We will identify key genetic variations related to high-altitude adaptability through genetic comparison between high-altitude and low altitude populations, and reveal how these genetic variations affect physiological functions, especially the adaptation mechanisms to environmental factors such as hypoxia and low air pressure. Through this study, we hope to not only enrich our understanding of human evolution, but also provide valuable genetic information for biomedical research, especially on how the human body responds to extreme environmental conditions such as hypoxia.
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