학술논문

Reliability of Ancestry-specific Prostate Cancer Genetic Risk Score in Four Racial and Ethnic Populations
Document Type
article
Source
European Urology Open Science, Vol 45, Iss , Pp 23-30 (2022)
Subject
Calibration
Ethnicity
Genetic risk score
Race
Diseases of the genitourinary system. Urology
RC870-923
Neoplasms. Tumors. Oncology. Including cancer and carcinogens
RC254-282
Language
English
ISSN
2666-1683
Abstract
Background: Reliability of prostate cancer (PCa) genetic risk score (GRS), that is, the concordance between its estimated risk and observed risk, is required for genetic testing at the individual level. Reliability data are lacking for non-European racial/ethnic populations, which hinders its clinical use and exacerbates racial disparity. Objective: To calibrate PCa ancestry-specific GRS in four racial/ethnic populations. Design, setting, and participants: PCa ancestry-specific GRSs, calculated from published risk-associated single-nucleotide polymorphisms in corresponding racial/ethnic populations, were evaluated in men who participated in 23andMe, Inc. genetic testing and consented for research, including 888 086 of European (EUR), 81 109 of Hispanic (HIS), 30 472 of African (AFR), and 13 985 of East Asian (EAS) ancestry, as classified by 23andMe's ancestry composition algorithm. Outcome measurements and statistical analysis: The concordance between the observed and estimated PCa risks at ten ancestry-specific GRS deciles was measured primarily by using the calibration slope (β), where 1 represents a perfect calibration. Platt scaling was used to correct the systematic bias of GRS. Results and limitations: A linear trend of an increased observed PCa prevalence in men with higher ancestry-specific GRS deciles was found in each racial population (all p-trend