IJMEC_2024v14n1

International Journal of Molecular Ecology and Conservation 2024, Vol.14, No.1, 18-26 http://ecoevopublisher.com/index.php/ijmec 22 and maintenance mechanisms of biodiversity, but also provides a theoretical basis for predicting and responding to adaptive changes in organisms under global climate change. 4 GWAS Technology Principles and Functions Genome-wide association studies (GWAS) are an important method in modern genetic research, which reveals the genetic basis of many diseases and physiological traits by analyzing the association between genetic variations on the genome and specific traits. The application of GWAS has greatly promoted our understanding of genetic etiology, which is of great significance for analyzing the role of human genetic variation in adapting to environmental changes. 4.1 Principles and methods of GWAS The core principle of GWAS is to search for associations between genotype (individual genetic information) and phenotype (observed traits or disease status) through statistical analysis (Uffelmann et al., 2021). This method typically involves two steps: first, collecting genomic and phenotypic data from a large number of individuals; Secondly, statistical methods are used to analyze these data to determine which genetic variations (usually single nucleotide polymorphisms, SNPs) are associated with specific phenotypes. During the data collection phase, researchers typically select two groups of individuals: one group is individuals with a specific phenotype (such as a certain disease), and the other group is a control group (individuals without that phenotype). Through high-throughput sequencing technology, researchers can identify millions of SNPs in the genomes of these individuals. During the data analysis phase, researchers used statistical software to compare the frequency differences of SNPs between two groups, in order to identify SNPs significantly associated with specific phenotypes. 4.2 The role and significance of GWAS in revealing human genetic variations The application of GWAS technology has greatly promoted the development of human genetics. Through GWAS, researchers have successfully identified thousands of genetic loci associated with human diseases and physiological traits (Visscher et al., 2017). These findings not only enrich our understanding of genetic diversity, but also provide new ideas for disease prevention, diagnosis, and treatment. GWAS has made significant achievements in the field of disease genetics, especially in the analysis of genetic causes of complex diseases. For example, in the study of cardiovascular disease (Liu et al., 2014), type 2 diabetes (Hao et al., 2015), Alzheimer’s disease (Ertekin Taner, 2010) and other diseases, GWAS revealed a large number of previously unknown risk genetic loci. These findings not only contribute to understanding the genetic mechanisms of diseases, but also provide possibilities for early prediction and personalized treatment of diseases. GWAS has also played an important role in studying human genetic adaptability to environmental changes. By analyzing genetic variations associated with specific environmental factors, researchers can explore how humans adapt to different environmental pressures during long-term evolution. For example, GWAS research has found a specific genetic variation in Tibetan populations located in high-altitude areas (Han and Li, 2023), which helps them adapt to low oxygen environments. Similar studies also include exploring resistance to malaria and adaptability to changes in dietary habits. At the same time, GWAS also provides a new perspective for understanding human genetic diversity and history. By comparing the genetic variation patterns of different populations, researchers can trace the pathways of human migration, explore genetic exchange between populations, and analyze the historical evolution of human populations. I believe that with the advancement of technology and the accumulation of big data, GWAS will play a more important role in future human genetic research. 5 Genetic Response of Humans to Environmental Changes 5.1 GWAS revealing human genetic adaptation strategies to global climate change The environmental pressures brought about by global climate change, such as temperature changes and increased ultraviolet radiation, require humans to have corresponding genetic adaptability to ensure survival and

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