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An overview of DNA methylation-derived trait score methods and applications.

ABSTRACT: Microarray technology has been used to measure genome-wide DNA methylation in thousands of individuals. These studies typically test the associations between individual DNA methylation sites ("probes") and complex traits or diseases. The results can be used to generate methylation profile scores (MPS) to predict outcomes in independent data sets. Although there are many parallels between MPS and polygenic (risk) scores (PGS), there are key differences. Here, we review motivations, methods, and applications of DNA methylation-based trait prediction, with a focus on common diseases. We contrast MPS with PGS, highlighting where assumptions made in genetic modeling may not hold in epigenetic data.

SUBMITTER: Nabais MF

PROVIDER: S-EPMC9936670 | biostudies-literature | 2023 Feb

REPOSITORIES: biostudies-literature

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An overview of DNA methylation-derived trait score methods and applications.

Nabais Marta F MF Gadd Danni A DA Hannon Eilis E Mill Jonathan J McRae Allan F AF Wray Naomi R NR

Genome biology 20230216 1

Microarray technology has been used to measure genome-wide DNA methylation in thousands of individuals. These studies typically test the associations between individual DNA methylation sites ("probes") and complex traits or diseases. The results can be used to generate methylation profile scores (MPS) to predict outcomes in independent data sets. Although there are many parallels between MPS and polygenic (risk) scores (PGS), there are key differences. Here, we review motivations, methods, and a ...[more]

PMID: 36797751

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