4.6 Article

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

Journal

PLOS ONE
Volume 12, Issue 7, Pages -

Publisher

PUBLIC LIBRARY SCIENCE
DOI: 10.1371/journal.pone.0179238

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Funding

  1. European Regional Development Funds for the Center of Excellence of Estonian ICT research EXCITE and Estonian Research Council [IUT34-4]

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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.

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