International Journal of Molecular Evolution and Biodiversity 2024, Vol.14, No.1, 10-17 http://ecoevopublisher.com/index.php/ijmeb 12 VKORC1, CYP2C9, and CYP4F2 were identified as the main genetic determinants of warfarin dosage (Takeuchi et al., 2009) (Figure 2). These studies indicate that individual differences in warfarin dosage requirements are largely determined by variations in the VKORC1 and CYP2C9 genes. By considering these genetic factors, doctors can more accurately predict the required dose of warfarin for patients, thereby optimizing treatment outcomes and reducing the risk of adverse reactions. Figure 2 P-values for each GWAS SNP tested for association with warfarin dose (Takeuchi et al., 2009) GWAS is not only applied to disease research, but also to explore the genetic basis of complex traits such as height, weight, and intelligence. Research has shown that multiple genetic loci identified by GWAS are associated with obesity related indices in children during adolescence. Especially, there is a significant correlation between variations in TMEM18 and FTO and obesity index during adolescence, while candidate SNPs such as NEGR1, GNPDA2, MTCH2, SH2B1, MC4R, and KCTD15 did not show significant effects (Wang et al, 2012). These studies have revealed a large number of genetic variations that affect complex traits, proving that the genetic basis of human traits typically involves the interaction of multiple genes. GWAS is also used to study genetic differences between different populations and their evolutionary significance. For example, through GWAS, researchers have discovered some genetic variations related to high-altitude adaptation, which are more frequent in populations living in high-altitude areas for a long time. These findings not only reveal the genetic mechanisms by which humans adapt to extreme environments, but also provide important clues for understanding human evolution. 2 Genetic Mechanisms of High-altitude Adaptability 2.1 GWAS research case analysis GWAS provides us with valuable insights in exploring the genetic basis of human high-altitude adaptability. The classic case is the GWAS study of Xizang plateau residents. The Xizang Plateau is one of the regions with the highest altitude in the world. Living in such a hypoxic environment for a long time, local residents have shown significant physiological adaptability, including low hemoglobin concentration and high oxygen saturation. Through GWAS analysis of Xizang plateau residents, researchers successfully identified multiple genetic variations related to high-altitude adaptability. The studies of Simonson et al. (2010) and Xu et al. (2011) both indicate that EPAS1 (also known as hypoxia inducible factor 2) α) Some genetic variations in the Tibetan population are closely related to low hemoglobin concentration (Figure 3), which is an important physiological characteristic for adapting to high-altitude and low oxygen environments. These variations in the EPAS1gene may help regulate the production of red blood cells.
RkJQdWJsaXNoZXIy MjQ4ODYzNA==