High altitude ecosystems have become one of the hotspots in biological research due to their unique environmental conditions, such as low oxygen, low temperature, and enhanced ultraviolet radiation. Compared to low altitude areas, the atmospheric oxygen concentration in high altitude areas significantly decreases, causing organisms to face pressure from insufficient oxygen supply here. Extreme low temperatures are a significant feature of high-altitude areas, which pose additional requirements for the metabolism and survival of organisms (Pandey et al., 2021). Ultraviolet radiation is more intense in high-altitude environments and has a significant impact on cell structure and function. The unique nature of this environment poses serious challenges to the survival and adaptation of organisms, forcing them to form unique adaptive strategies during the process of evolution.

In high-altitude environments, organisms maintain survival through a series of complex adaptive mechanisms. When facing the challenge of hypoxia, organisms respond by increasing the number of red blood cells and improving oxygen transport efficiency. Animals and plants in high-altitude areas also adapt to low-temperature conditions through physiological and molecular adaptation strategies such as changing metabolic pathways and enhancing cell membrane stability (Pu et al., 2023). The adaptive mechanism of ultraviolet radiation involves various biological reactions such as DNA repair and pigment regulation. These mechanisms of biological adaptation provide insights into the impact of high-altitude ecosystems on the human genome.

The potential impact of high-altitude ecosystems on the human genome has attracted widespread attention. The lives of different populations in high-altitude areas may lead to adaptive changes in their genomes (Fan et al., 2018). This study will focus on the genetic adaptability of different ethnic groups or populations in high-altitude environments, and investigate the possible genetic variations and mechanisms involved in this process. Is there a significant difference in genomic adaptability among different populations in high-altitude environments, and is this adaptability related to specific genetic markers. The study of these issues will contribute to a deeper understanding of the evolutionary process of the human genome in high-altitude ecosystems.

The aim of this study is to systematically analyze the impact of high-altitude ecosystems on the genomic adaptability of different populations. Exploring the potential impact of ecological characteristics in high-altitude environments on the human genome. By comparing the genetic adaptability of different populations in high-altitude environments, the possible genetic differences between different populations are revealed. By analyzing the relationship between high-altitude adaptability and health, explore whether this adaptability has an impact on the susceptibility to specific diseases. Deepening this research aims to provide a new perspective for understanding the adaptability of the human genome and provide scientific basis for future medical and biological research.

1 Characteristics of High Altitude Ecosystems

Organisms in high-altitude ecosystems have undergone a long evolutionary process, forming a series of unique adaptive characteristics to adapt to their extreme environments. These characteristics not only provide a guarantee for the survival of organisms in high-altitude environments.

1.1 Physical and biological characteristics of high altitude environment

In high-altitude environments, there are significant differences in climate conditions compared to low-altitude areas. Low oxygen is a significant feature of high-altitude environments, and as altitude increases, oxygen concentration gradually decreases, which has a profound impact on the metabolism and survival of organisms (Wu et al., 2019). In high mountain areas above the snow line, plants need to cope with oxygen scarcity, leading to the development of more efficient gas exchange mechanisms in some plants, such as Saussurea involucrata (Kar. & Kir.) Sch Bip..

The growth of plants is limited under cold conditions, but some alpine plants have adapted to this condition, such as Abies fabri (Mast.) Craib in high-altitude areas. These plants typically have tolerance and adaptability to low temperatures (Zhang et al., 2021), adapting to extreme temperatures by slowing down growth rate or adjusting leaf structure (Figure 1).

Figure 1 Adaptation of high-altitude fir to extreme low temperatures

The intensity of ultraviolet radiation is higher in high-altitude areas than in low-altitude areas. Alpine plants and animals must cope with DNA damage caused by ultraviolet radiation. Some plants in high-altitude areas, such as Koenigia alpina (All.) T. M. Schust& Reveall), demonstrating tolerance to ultraviolet radiation and reducing its damage through biochemical and physiological mechanisms.

There are relatively few animal species in high-altitude areas, but they typically exhibit adaptability to cold and low oxygen environments (Zang et al., 2023). The snow leopard (Panthera uncia) lives in the Himalayan region, and its fur and short and thick body structure enable it to survive in harsh and hypoxic mountain environments. Some high-altitude birds, such as the snow finch (Montifringilla), also exhibit adaptability to cold environments, with their feather color and cellular metabolism helping them survive in extreme environments.

1.2 Biodiversity and adaptive pressures in ecosystems

The biodiversity in high-altitude ecosystems is constrained by various factors, including extreme climate, terrain complexity, and relatively isolated geographical locations. Although there are relatively few species, some specialized plants and animals exhibit excellent adaptability in this environment.

In high-altitude vegetation, typical plant species include alpine cordyceps, alpine coniferous forests such as fir. As a medicinal fungus, Cordyceps militaris can survive and reproduce in low oxygen and low temperature environments. The adaptability of its growth cycle and metabolic processes to high-altitude environments has become one of the focuses of research. The fir is a typical plant in high-altitude regions (Zhang et al., 2021), which has successfully adapted to the harsh climate of high mountains by developing special cold resistant physiological mechanisms, such as reducing freezing temperature and improving antioxidant capacity.

In animal communities, Tibetan antelopes are one of the representative species in high-altitude areas. As a large herbivore on the Qinghai Tibet Plateau, Tibetan antelopes effectively cope with low oxygen pressure and extreme temperatures in high-altitude environments through their unique respiratory system and blood structure. Their long and powerful legs and thick fur also provide strong support for their survival in rugged mountain terrain.

Adaptive stress is not only manifested in the morphological structure of organisms, but also in the evolution of behavioral and physiological characteristics (Gao et al., 2019). Birds in high-altitude areas, such as snow finches, adapt to harsh climate conditions by changing their activity patterns and selecting their nests. The high-altitude blue woolly bird has a higher metabolic rate and trachea branching structure, in order to more effectively obtain oxygen and adapt to lower oxygen concentrations in high-altitude environments.

2 Concept of Genomic Adaptability

Genomic adaptability plays an important role in biological research, connecting the genetic foundation of organisms with the evolution of the environment. It is an important driving force for organisms to adapt to the environment, maintain population survival, and promote species evolution throughout the long evolutionary process.

2.1 Defining genomic adaptability

Genomic adaptation refers to the adaptive adjustment of a biological population to a specific environment gradually formed through genetic variation and natural selection over a long evolutionary process (Levy et al., 2018). This adaptability is not only manifested at the individual level, but also in genetic changes at the population level. Genomic adaptability is different from the adaptability of individual genes, as it involves the evolution of the structure and function of the entire genome. In a specific environment, the frequency of certain genotypes may increase to adapt to environmental pressure, and the accumulation of these genotypes promotes better adaptation and survival of the entire population in that environment.

The realization of genomic adaptability is mainly achieved through the evolutionary mechanism of natural selection. In specific environments, individuals with favorable genotypes are more likely to survive, reproduce, and pass on their favorable genes to the next generation. As time goes on, the frequency of favorable genes gradually increases, and the adaptability of the entire population to the environment is strengthened. Genomic adaptation is a product of evolution, reflecting the continuous adjustment and change of organisms to environmental changes over a long period of time.

2.2 The importance of genome adaptability in different environments

Genomic adaptability has important ecological and evolutionary significance in different environments. It is a natural response mechanism of organisms to environmental changes. Faced with changes in climate, geography, and ecosystems (Capblancq et al., 2020), genomic adaptability endows organisms with a higher likelihood of survival and reproductive success in new environments. This adaptive adjustment helps to maintain the genetic diversity of the population and improve its overall adaptability.

Genomic adaptability is crucial for the survival and reproduction of species. In specific environments, populations with good adaptability are more likely to form prosperous populations, while populations with poor adaptability may face extinction. The existence of genomic adaptability maintains the balance and diversity of species in ecosystems, and has a profound impact on the stability of the entire ecosystem.

Genomic adaptability also provides impetus for the evolution of organisms (An et al., 2019). Through long-term natural selection, the transmission of favorable genotypes within the population leads to changes in gene frequency, providing new genetic materials for species evolution. This helps species to continuously adapt to environmental changes, making them more competitive.

At the human level, understanding the adaptability of the genome is of great value in explaining genetic differences among humans in different geographical and ecological environments. Throughout human history, humans have been distributed under various environmental conditions, and populations in different regions may adapt to the characteristics of their local environment through genome adaptation. Therefore, in-depth research on genome adaptability can help reveal the mechanisms underlying the formation of human genetic diversity.

3 A Study on the Impact of Three Genomic Adaptations on Different Population Groups

Comparing these genetic differences not only helps to understand the unique adaptation strategies of different ethnic groups in high-altitude environments, but also provides clues for finding common adaptive genes. These studies contribute to the establishment of a more comprehensive genetic map for high-altitude adaptability, providing scientific basis for future research directions in fields such as medicine and biology.

3.1 Research on genetic adaptation of different ethnic groups or populations in high-altitude environments

In past studies, many scholars have focused on the genetic adaptation of different ethnic groups or populations in high-altitude environments to reveal the genomic changes that occur in these populations when facing extreme environmental pressures (O’Brien et al., 2020).

The Sherpas in Nepal live in the high altitude area of the the Himalayas and face extreme hypoxia and low temperature environment. Research has shown that there are specific variations in the genome of the Sherpa people, which are related to hemoglobin concentration and oxygen transport, making them better adapted to high-altitude environments.

The Chimera people in the Amazon Andes region of Peru face strong hypoxic environments due to their residence at a height of over 4 000 meters. Related studies have found that there are some genetic variations related to oxygen perception and transportation in the genome of Chimera people, which help improve their adaptability to low oxygen environments.

In addition, the Indian population has also become the focus of research in parts of Ecuador in the Andes. People in this region have been exposed to high-altitude environments for a long time, and research has found that there are some genetic variations in the Native American population, which are related to cardiovascular adaptation and energy metabolism. These variations enable them to better adapt to low oxygen and low temperature conditions at high altitudes.

Tibetans in the the Himalayas also live at high altitude (Figure 2), and their genome research has also revealed some genetic variations related to oxygen adaptability. The study of genetic diversity contributes to a more comprehensive understanding of human genetic adaptation in high-altitude environments.

Figure 2 People in the the Himalayas adapt to high altitude hypoxia and low temperature

The Lahasio population in Kenya, Africa, lives in high-altitude areas of the Great Rift Valley and faces different climatic and environmental pressures from the high-altitude areas of Asia and South America. Related studies have revealed some genetic variations in the Lahasio population, which are related to physiological processes such as blood coagulation and antioxidant defense, providing a diverse perspective for understanding human genetic adaptability in high-altitude environments.

3.2 Comparing genetic differences in how different populations adapt to high-altitude environments

By comparing and analyzing the genomes of different populations, genetic differences in adapting to high-altitude environments were revealed. Taking Native Americans and Sherpas as examples, although they live in different high-altitude regions, they exhibit some commonalities at the genetic level. Genes related to oxygen transmission and hemoglobin concentration underwent mutations in both populations (Sharma et al., 2022), indicating the independent evolution of these common adaptive genes in different populations in high-altitude environments.

Even within the same geographical region, there are significant differences in genetic adaptability among different ethnic groups or populations. In the Andes Mountains of South America, some groups adjacent to the Chimera, such as the Acqua and Conchal, may have unique adaptive variations in their genomes despite living in similar high-altitude environments. This indicates that factors such as geographical environment and cultural history have an impact on the shaping of genetic adaptability.

The genetic differences among different populations are not only reflected in oxygen adaptability, but also extend to other physiological and metabolic processes. Some high-altitude residents in South America may exhibit higher metabolic efficiency, while populations in Asia may exhibit stronger cardiovascular adaptability. This diversity suggests the complexity and diversity of high-altitude adaptation in human evolution.

Although some progress has been made in current research, it is necessary to cover high-altitude populations from various continents and regions more extensively in future research to comprehensively understand human genetic adaptability in high-altitude environments. At the same time, considering the impact of different environmental factors, cultural differences, and lifestyles is crucial for understanding the overall picture of genetic adaptability.

3.3 Specific case studies

The Tibetan people are an important ethnic group living on the Qinghai Tibet Plateau, and have been living in a high altitude environment for a long time. Related studies have found that genes related to high-altitude adaptability in the Tibetan population have undergone significant adaptive evolution. Especially the HIF-2A gene and EPAS1 gene (Zheng et al., 2023) are closely related to physiological characteristics such as hemoglobin levels and oxygen uptake, demonstrating long-term genetic adaptation in high-altitude environments (Figure 3).

Figure 3 Researchers discover a new gene for Tibetan adaptation to high altitude (photo credit: China News Network)

The genome research of Andean people who have lived in the Andes for a long time has also revealed their unique adaptation to high-altitude environments. Significant genetic variations related to oxygen transmission and cardiovascular adaptability have been found in genes such as the HIF family and EGLN1, which may be crucial for them to cope with low oxygen pressure in high-altitude environments.

People living in the highlands of Ethiopia also face challenges from high-altitude environments. Research has shown that some genes in these residents, such as PPARA and CYP1A2, exhibit genetic variations related to high-altitude adaptation. The variations in these genes may be related to the physiological processes of energy metabolism and tolerance to hypoxic environments.

In these cases, the population demonstrated adaptability to high-altitude environments through genetic mutations. The EPAS1 gene mutation in the Tibetan population is closely related to oxygen transmission and cardiovascular adaptability, providing them with advantages for survival in high-altitude areas. The HIF-1A and NOS2 gene mutations in Andean people are also believed to be adaptive changes in response to hypoxic environments. The PPARA and CYP1A2 gene mutations in Ethiopian highland residents may be related to energy metabolism and oxygen utilization in high-altitude areas.

The accumulation of these genetic variations may be the result of prolonged exposure to high-altitude environments, providing an advantage for these populations when facing extreme environments such as low oxygen and low temperatures. By deeply studying the functional mechanisms of these gene variations, we can better understand the adaptive evolution process of humans in high-altitude environments, providing new research directions for fields such as medicine and biology.

4 The Relationship between High Altitude Adaptation and Health

The special environmental conditions in high-altitude ecosystems have a profound impact on humans, and the relationship between high-altitude adaptability and health has become one of the research focuses. In high-altitude environments, the human body has undergone long-term evolution and developed a series of physiological and genetic changes, which to some extent shape an individual’s health status.

4.1 How high altitude adaptation affects health and diseases

In high-altitude ecosystems, humans adapt more to conditions such as low oxygen and low temperature through various physiological and genetic adaptation mechanisms. Adaptive adjustment may have a significant impact on the cardiovascular system. Due to the decrease in oxygen content in high-altitude environments, the human body needs a higher hemoglobin concentration to ensure sufficient oxygen supply. This adjustment may lead to more efficient transportation of oxygen by the cardiovascular system, but it may also increase the risk of cardiovascular disease (Mallet et al., 2021).

High altitude adaptability may have profound effects on the respiratory system. In long-term hypoxic environments, the human body may experience physiological changes such as increased respiratory rate and increased red blood cells to improve oxygen absorption efficiency. These adaptive mechanisms may be necessary for populations living in high-altitude areas, but they may also trigger potential respiratory problems such as chronic mountain sickness.

High altitude adaptation may also affect metabolic pathways. Adaptive adjustment may lead to changes in energy metabolism to adapt to low-temperature and hypoxic environments. This may have an impact on weight control and energy balance, affecting an individual’s overall health status.

High altitude adaptability can not only ensure survival, but also trigger a series of health issues related to cardiovascular, respiratory, and metabolic factors. Understanding how adaptive adjustment affects health and its variability among different individuals is of great significance for the health management of populations in high-altitude areas.

4.2 How adaptive changes affect susceptibility or resistance to certain diseases

Adaptive changes may to some extent affect an individual’s susceptibility or resistance to certain diseases. Adaptive adjustment may enhance individuals’ antioxidant capacity. Due to the strong ultraviolet radiation in high-altitude environments, individuals often face more oxidative stress. Through adaptive changes, the human body may enhance its antioxidant defense system, reduce cell damage, and thereby reduce the risk of diseases related to oxidative stress, such as cancer and Alzheimer’s disease.

Adaptive adjustment may have a direct or indirect impact on the immune system, thereby affecting the individual’s resistance to infectious diseases. Adaptive adjustment may regulate inflammatory responses and affect the function of immune cells. These changes may make individuals more effective in resisting some pathogens, but they may also lead to insufficient immune system response to other diseases. Therefore, adaptive adjustment has a dual impact on the risk of infection among individuals in high-altitude environments.

High altitude adaptation may also affect some chronic diseases related to climate and environment (Sydykov et al., 2021). Adaptive adjustment may affect insulin sensitivity and blood glucose regulation, thereby affecting the risk of diabetes. By conducting in-depth research on the impact of adaptive adjustment on different diseases, we can better understand the health status of populations in high-altitude areas and provide scientific basis for the prevention and treatment of related diseases.

5 Conclusion

Through research on relevant aspects of high-altitude ecosystems, we have gained a deeper understanding of the key characteristics of genome adaptability among different populations in this special environment. People from various high-altitude regions exhibit unique genomic adaptability, such as Tibetans, Andeans, and Ethiopian highland residents, whose genetic variations are closely related to the survival challenges of high-altitude environments. These adaptive changes involve multiple biological processes such as oxygen transport and energy metabolism, providing a biological basis for human survival in high-altitude environments.

This study reveals the complex relationship between high-altitude adaptability and health. Adaptive changes have a significant impact on the resistance or susceptibility of some diseases, providing important clues for understanding the health phenomena in high-altitude areas. The deepening understanding of biodiversity and adaptive pressure in high-altitude environments provides new directions for future ecological and evolutionary biology research.

There are still some limitations and unresolved issues in current research. Although in-depth research has been conducted on populations in specific high-altitude regions, there is still a lack of comprehensive understanding of the differences and similarities in populations in global high-altitude regions. Existing research mainly focuses on adaptive changes at the gene level, while there is relatively little research on epigenetics, transcriptomics, and other aspects. This limits our comprehensive understanding of high-altitude adaptability. The comprehensive effects of multiple factors interacting in high-altitude environments, such as oxygen concentration, temperature, and ultraviolet radiation, require more detailed research. The current research mostly considers a single factor and lacks systematic analysis of the interaction between multiple factors.

To address these issues, future research can adopt a more global and multidimensional research design, delving into the genomic adaptability of populations in different high-altitude regions, including a comprehensive analysis of genetics and epigenetics. It is necessary to strengthen the monitoring and research of biodiversity in high-altitude ecosystems to comprehensively understand the impact of the environment on genome adaptability. Future research can expand to the interaction between populations, examining gene flow and adaptive changes between populations migrating to high-altitude areas and local residents. This helps to understand the evolutionary process of human migration and communication in terms of genome adaptation.

The importance of these studies in understanding human genetic adaptability cannot be ignored. By conducting in-depth research on high-altitude ecosystems, we can not only reveal human genetic strategies when facing extreme environments, but also provide important references for various fields such as medicine, biology, and anthropology. A deeper understanding of the adaptability of the human genome not only helps prevent and treat related diseases, but also provides a new perspective for explaining human migration and cultural inheritance. Therefore, research in this field has profound significance in promoting the development of human genetics and ecology.

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