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Piekos JA, Hellwege JN, Zhang Y, Torstenson ES, Jarvik GP, Dikilitas O, Kullo IJ, Schaid DJ, Crosslin DR, Pendergrass SA, Lee MTM, Roden D, Denny JC, Edwards TL, Velez Edwards DR. Uterine fibroid polygenic risk score (PRS) associates and predicts risk for uterine fibroid. Human genetics. 2022 Feb 28.
Abstract
Uterine fibroids (UF) are common pelvic tumors in women, heritable, and genome-wide association studies (GWAS) have identified ~ 30 loci associated with increased risk in UF. Using summary statistics from a previously published UF GWAS performed in a non-Hispanic European Ancestry (NHW) female subset from the Electronic Medical Records and Genomics (eMERGE) Network, we constructed a polygenic risk score (PRS) for UF. UF-PRS was developed using PRSice and optimized in the separate clinical population of BioVU. PRS was validated using parallel methods of 10-fold cross-validation logistic regression and phenome-wide association study (PheWAS) in a seperate subset of eMERGE NHW females (validation set), excluding samples used in GWAS. PRSice determined p