Worldwide population differentiation at disease-associated SNPs
2008

Global Differences in Disease-Associated Genetic Variants

Sample size: 1000 publication 10 minutes Evidence: moderate

Author Information

Author(s): Myles Sean, Davison Dan, Barrett Jeffrey, Stoneking Mark, Timpson Nic

Primary Institution: Max Planck Institute for Evolutionary Anthropology

Hypothesis

How well do disease-associated genetic variants identified in one population predict their frequency in other populations?

Conclusion

There is substantial variation in risk allele frequencies between populations, which may account for differences in disease prevalence.

Supporting Evidence

  • Risk allele frequencies vary significantly across different populations.
  • Some SNPs show evidence of local positive selection.
  • Disease-associated SNPs do not show more differentiation than random SNPs.

Takeaway

Different groups of people can have different versions of genes that affect their health, and these differences can help explain why some diseases are more common in some populations than others.

Methodology

Genotyping of ~1000 individuals from 53 populations at 25 SNPs associated with 6 complex diseases.

Potential Biases

Potential bias due to reliance on European ancestry for many disease association studies.

Limitations

The study relies on SNPs that may not be universally applicable across all populations.

Participant Demographics

Individuals from 53 diverse populations worldwide.

Statistical Information

P-Value

0.462

Statistical Significance

p<0.05

Digital Object Identifier (DOI)

10.1186/1755-8794-1-22

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