Polygenic risk scores in imaging genetics: Usefulness and applications

J Psychopharmacol. 2015 Aug;29(8):867-71. doi: 10.1177/0269881115584470. Epub 2015 May 5.

Abstract

Genetic factors account for up to 80% of the liability for schizophrenia and bipolar disorder. Genome-wide association studies (GWAS) have successfully identified several single nucleotide polymorphisms (SNPs) and genes associated with increased risk for both disorders. Single SNP analyses alone do not address the overall genomic or polygenic architecture of psychiatric disorders as the amount of phenotypic variation explained by each GWAS-supported SNP is small whereas the number of SNPs/regions underlying risk for illness is thought to be very large. The polygenic risk score models the aggregate effect of alleles associated with disease status present in each individual and allows us to utilise the power of large GWAS to be applied robustly in small samples. Here we make the case that risk prediction, intervention and personalised medicine can only benefit with the inclusion of polygenic risk scores in imaging genetics research.

Keywords: Imaging genetics; bipolar disorder; polygenic risk score; psychiatry; schizophrenia.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Bipolar Disorder / genetics*
  • Genetic Predisposition to Disease*
  • Genome-Wide Association Study*
  • Humans
  • Multifactorial Inheritance*
  • Neuroimaging*
  • Schizophrenia / genetics*