Progress in Polygenic Composite Scores in Alzheimer's and Other Complex Diseases

Danai Chasioti, Jingwen Yan, Kwangsik Nho, Andrew J. Saykin

Research output: Contribution to journalReview article

8 Scopus citations


Advances in high-throughput genotyping and next-generation sequencing (NGS) coupled with larger sample sizes brings the realization of precision medicine closer than ever. Polygenic approaches incorporating the aggregate influence of multiple genetic variants can contribute to a better understanding of the genetic architecture of many complex diseases and facilitate patient stratification. This review addresses polygenic concepts, methodological developments, hypotheses, and key issues in study design. Polygenic risk scores (PRSs) have been applied to many complex diseases and here we focus on Alzheimer's disease (AD) as a primary exemplar. This review was designed to serve as a starting point for investigators wishing to use PRSs in their research and those interested in enhancing clinical study designs through enrichment strategies.

Original languageEnglish (US)
Pages (from-to)371-382
Number of pages12
JournalTrends in Genetics
Issue number5
StatePublished - May 2019


  • Alzheimer's disease
  • heritability
  • linkage disequilibrium
  • polygenic hazard score
  • polygenic risk score
  • statistical power

ASJC Scopus subject areas

  • Genetics

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