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March 21, 2017PLoS Medicine415 citationsOpen Access

Genetic assessment of age-associated Alzheimer disease risk: Development and validation of a polygenic hazard score

RDRahul S. DesikanCFChun Chieh FanYWYunpeng Wang

Key Points

  • The aim is to develop and validate a polygenic hazard score (PHS) for assessing individual genetic risk for Alzheimer disease (AD) as it relates to age.
  • Developed a polygenic hazard score for quantifying genetic risk for AD.
  • Conducted validation across multiple cohorts to ensure reliability.
  • Analyzed polygenic architecture beyond the APOE gene.
  • Demonstrated the PHS effectively quantifies age-specific genetic risk for Alzheimer disease.
  • Validated that inherited genetic variation significantly modifies AD risk.
  • Indicated the PHS could enhance participant stratification in therapeutic trials.

Abstract

We have developed a PHS for quantifying individual differences in age-specific genetic risk for AD. Within the cohorts studied here, polygenic architecture plays an important role in modifying AD risk beyond APOE. With thorough validation, quantification of inherited genetic variation may prove useful for stratifying AD risk and as an enrichment strategy in therapeutic trials.

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Cite This Study

Desikan et al. (2017) studied this question.

synapsesocial.com/papers/69daaa66387cf7069868748dhttps://doi.org/10.1371/journal.pmed.1002258
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