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Comparing distributions of polygenic risk scores of type 2 diabetes and coronary heart disease within different populations.

Sulev ReisbergTatjana IljasenkoKristi LällKrista FischerJaak Vilo
Published in: PloS one (2017)
Polygenic risk scores are gaining more and more attention for estimating genetic risks for liabilities, especially for noncommunicable diseases. They are now calculated using thousands of DNA markers. In this paper, we compare the score distributions of two previously published very large risk score models within different populations. We show that the risk score model together with its risk stratification thresholds, built upon the data of one population, cannot be applied to another population without taking into account the target population's structure. We also show that if an individual is classified to the wrong population, his/her disease risk can be systematically incorrectly estimated.
Keyphrases
  • type diabetes
  • cardiovascular disease
  • systematic review
  • randomized controlled trial
  • circulating tumor
  • risk assessment
  • big data
  • dna methylation
  • copy number
  • cell free
  • human health