International Journal of Molecular Ecology and Conservation 2024, Vol.14, No.1, 18-26 http://ecoevopublisher.com/index.php/ijmec 23 reproduction. GWAS research helps us understand how humans adapt to these changes by identifying genetic variations associated with these environmental factors. Williams et al. (2016) found that there is a genetic variation related to energy metabolism in populations living in high latitude regions, which helps improve the body’s ability to generate heat in cold environments. Through GWAS analysis, researchers found that there are abnormally high frequencies of certain SNPs in populations in these regions, which are located on genes related to fat metabolism and energy production, indicating that these genetic variations may be the genetic basis for human adaptation to cold environments. Similarly, GWAS research has also discovered the genetic basis for human skin color diversity in adaptation to ultraviolet radiation. Crawford et al. (2017) conducted a GWAS study on different races in Africa and found significant genetic variations associated with skin color variations, located in four genomic regions, explaining almost 30% of phenotypic variations. The most significant association was found near the SLC24A5 gene, which has previously been associated with skin color in European populations. The study also found that variations near MFSD12, DDB1, TMEM138, OCA2, and HERC2 were significantly associated with skin color. These genes are involved in various functions such as UV response, DNA damage repair, and melanocyte biology. Yang et al. (2022) found that Tibetans in the Qinghai Tibet Plateau have a deeper baseline skin color and better tanning ability compared to Han Chinese in the lowlands (Figure 3). This study found that the adaptive variation of GNPAT may enhance the tanning ability of Tibetans through the interaction of genes such as CAT and ACAA1 related to melanin synthesis, in order to better protect the skin from UV damage. Figure 3 Skin pigmentation comparison among different populations (Yang et al., 2022) Note: A: Comparison of skin darkness among world populations. The y axis indicates the M value of underarm and the error bars indicate SD; B–D: Comparison of skin darkness (hand, underarm, and buttock) among Tibetans from different altitudes; E: Comparison of the constitutive and facultative skin color of TBN and CHN at similar altitudes (three different locations in Qinghai Province of China, 3,712 ± 64 m). ns, not significant, P > 0.05; *P < 0.05, **P < 0.01, ***P < 0.001 These studies confirm that the variation in human skin color is not only a genetic adaptation to ultraviolet radiation, but also reflects the richness of human genetic diversity. Through GWAS analysis, scientists have identified multiple SNPs related to skin color, deepening our understanding of the complex genetic mechanisms behind human adaptation to different environmental lighting conditions.
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