TY - JOUR
T1 - Polygenic risk score as clinical utility in psychiatry
T2 - a clinical viewpoint
AU - Ikeda, Masashi
AU - Saito, Takeo
AU - Kanazawa, Tetsufumi
AU - Iwata, Nakao
N1 - Publisher Copyright:
© 2020, The Author(s), under exclusive licence to The Japan Society of Human Genetics.
PY - 2021/1
Y1 - 2021/1
N2 - Genome-wide association studies (GWASs) have detected many susceptible variants for common diseases, including psychiatric disorders. However, because of the small effect size of each variant, clinical utility that aims for risk prediction and/or diagnostic assistance based on the individual “variants” is difficult to use. Therefore, to improve the statistical power, polygenic risk score (PRS) has been established and applied in the GWAS as a robust analytic tool. Although PRS has potential predictive ability, because of its current “insufficient” discriminative power at the individual level for clinical use, it remains limited solely in the research area, specifically in the psychiatric field. For a better understanding of the PRS, in this review, we (1) introduce the clinical features of psychiatric disorders, (2) summarize the recent GWAS/PRS findings in the psychiatric disorders, (3) evaluate the problems of PRS, and (4) propose its possible utility to apply PRS into the psychiatric clinical setting.
AB - Genome-wide association studies (GWASs) have detected many susceptible variants for common diseases, including psychiatric disorders. However, because of the small effect size of each variant, clinical utility that aims for risk prediction and/or diagnostic assistance based on the individual “variants” is difficult to use. Therefore, to improve the statistical power, polygenic risk score (PRS) has been established and applied in the GWAS as a robust analytic tool. Although PRS has potential predictive ability, because of its current “insufficient” discriminative power at the individual level for clinical use, it remains limited solely in the research area, specifically in the psychiatric field. For a better understanding of the PRS, in this review, we (1) introduce the clinical features of psychiatric disorders, (2) summarize the recent GWAS/PRS findings in the psychiatric disorders, (3) evaluate the problems of PRS, and (4) propose its possible utility to apply PRS into the psychiatric clinical setting.
UR - http://www.scopus.com/inward/record.url?scp=85089134911&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85089134911&partnerID=8YFLogxK
U2 - 10.1038/s10038-020-0814-y
DO - 10.1038/s10038-020-0814-y
M3 - Review article
C2 - 32770057
AN - SCOPUS:85089134911
SN - 1434-5161
VL - 66
SP - 53
EP - 60
JO - Journal of Human Genetics
JF - Journal of Human Genetics
IS - 1
ER -