학술논문
Evaluating the use of blood pressure polygenic risk scores across race/ethnic background groups
Document Type
article
Author
Nuzulul Kurniansyah; Matthew O. Goodman; Alyna T. Khan; Jiongming Wang; Elena Feofanova; Joshua C. Bis; Kerri L. Wiggins; Jennifer E. Huffman; Tanika Kelly; Tali Elfassy; Xiuqing Guo; Walter Palmas; Henry J. Lin; Shih-Jen Hwang; Yan Gao; Kendra Young; Gregory L. Kinney; Jennifer A. Smith; Bing Yu; Simin Liu; Sylvia Wassertheil-Smoller; JoAnn E. Manson; Xiaofeng Zhu; Yii-Der Ida Chen; I-Te Lee; C. Charles Gu; Donald M. Lloyd-Jones; Sebastian Zöllner; Myriam Fornage; Charles Kooperberg; Adolfo Correa; Bruce M. Psaty; Donna K. Arnett; Carmen R. Isasi; Stephen S. Rich; Robert C. Kaplan; Susan Redline; Braxton D. Mitchell; Nora Franceschini; Daniel Levy; Jerome I. Rotter; Alanna C. Morrison; Tamar Sofer
Source
Nature Communications, Vol 14, Iss 1, Pp 1-14 (2023)
Subject
Language
English
ISSN
2041-1723
Abstract
Abstract We assess performance and limitations of polygenic risk scores (PRSs) for multiple blood pressure (BP) phenotypes in diverse population groups. We compare “clumping-and-thresholding” (PRSice2) and LD-based (LDPred2) methods to construct PRSs from each of multiple GWAS, as well as multi-PRS approaches that sum PRSs with and without weights, including PRS-CSx. We use datasets from the MGB Biobank, TOPMed study, UK biobank, and from All of Us to train, assess, and validate PRSs in groups defined by self-reported race/ethnic background (Asian, Black, Hispanic/Latino, and White). For both SBP and DBP, the PRS-CSx based PRS, constructed as a weighted sum of PRSs developed from multiple independent GWAS, perform best across all race/ethnic backgrounds. Stratified analysis in All of Us shows that PRSs are better predictive of BP in females compared to males, individuals without obesity, and middle-aged (40-60 years) compared to older and younger individuals.