PharmFreq: a comprehensive atlas of ethnogeographic allelic variation in clinically important pharmacogenes
2025

PharmFreq: A Global Atlas of Pharmacogenetic Variation

Sample size: 10000000 publication 10 minutes Evidence: high

Author Information

Author(s): Tremmel Roman, Zhou Yitian, Camara Mahamadou D, Laarif Sofiene, Eliasson Erik, Lauschke Volker M

Primary Institution: Dr Margarete Fischer-Bosch Institute of Clinical Pharmacology

Hypothesis

The study aims to create a comprehensive repository of pharmacogenetic frequency information across diverse populations.

Conclusion

PharmFreq provides a valuable resource for understanding pharmacogenetic diversity and addressing inequities in pharmacogenomic research.

Supporting Evidence

  • PharmFreq aggregates frequency data of 658 allelic variants from over 10 million individuals.
  • Most studies were conducted in East Asian and European populations, accounting for 29.4% and 26.6% of all studies, respectively.
  • Population coverage varies significantly, with some countries having less than 0.001% representation.

Takeaway

PharmFreq is like a big map that shows how different people around the world respond to medicines based on their genes, helping doctors give better treatments.

Methodology

The study collected and curated pharmacogenetic frequency data from over 1200 studies involving more than 10 million individuals across 144 countries.

Potential Biases

The majority of studies are skewed towards East Asian and European populations, potentially leading to biased conclusions.

Limitations

The study's coverage varies significantly across different populations, with many underrepresented groups having limited data.

Participant Demographics

Data was collected from over 10 million individuals across 144 countries, with a focus on East Asian and European populations.

Statistical Information

P-Value

3*10−9

Statistical Significance

p<0.05

Digital Object Identifier (DOI)

10.1093/nar/gkae1016

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