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Adaptations to climate-mediated selective pressures in humans.

Angela M Hancock1, David B Witonsky, Gorka Alkorta-Aranburu

  • 1Department of Human Genetics, University of Chicago, Chicago, Illinois, United States of America.

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Human adaptation to diverse climates is driven by natural selection. This study identifies genetic variations (SNPs) strongly linked to climate, revealing adaptations in pigmentation, immunity, and cancer across global populations.

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Area of Science:

  • Human evolutionary genetics
  • Population genomics
  • Climate adaptation

Background:

  • Humans thrive in diverse global environments, suggesting adaptation to extreme climates via natural selection.
  • Previous studies primarily used population genetic data to infer selection.
  • Genome-wide scans offer a more comprehensive approach to identifying climate-driven adaptations.

Purpose of the Study:

  • To scan the human genome for signals of natural selection associated with climate.
  • To identify specific genetic variations (SNPs) with strong correlations between allele frequencies and climate variables.
  • To explore the functional implications of climate-associated genetic variations.

Main Methods:

  • Analysis of single nucleotide polymorphisms (SNPs) across 61 worldwide human populations.
  • Correlation analysis between SNP allele frequencies and key climate variables.
  • Comparison of genic and non-genic SNPs, and overlap with Genome-Wide Association Studies (GWAS).

Main Results:

  • A significant enrichment of genic and nonsynonymous SNPs strongly correlated with climate variables was observed.
  • Extreme selection signals overlapped with SNPs previously associated with pigmentation, autoimmune diseases, and other traits.
  • Gene sets related to UV radiation, infection/immunity, and cancer showed an enrichment of strong climate-associated signals.

Conclusions:

  • Climate has played a significant role in shaping the spatial distribution of human genetic variation.
  • Natural selection in response to climate influences genes involved in immunity, pigmentation, and disease susceptibility.
  • Genome-wide analysis provides powerful insights into human adaptation to diverse environmental conditions.