Uterine fibroid polygenic risk score (PRS) associates and predicts risk for uterine fibroid

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 subse...

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Veröffentlicht in:Human genetics 2022-11, Vol.141 (11), p.1739-1748
Hauptverfasser: Piekos, Jacqueline A., Hellwege, Jacklyn N., Zhang, Yanfei, Torstenson, Eric S., Jarvik, Gail P., Dikilitas, Ozan, Kullo, Iftikhar J., Schaid, Daniel J., Crosslin, David R., Pendergrass, Sarah A., Lee, Ming Ta Michael, Roden, Dan, Denny, Josh C., Edwards, Todd L., Velez Edwards, Digna R.
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Sprache:eng
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Zusammenfassung: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 t  
ISSN:0340-6717
1432-1203
DOI:10.1007/s00439-022-02442-z