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Genome-wide associations for benign prostatic hyperplasia reveal a genetic correlation with serum levels of PSA

Gudmundsson, J; Sigurdsson, JK; Stefansdottir, L; Agnarsson, BA; Isaksson, HJ; Stefansson, OA; Gudjonsson, SA; ... Stefansson, K; + view all (2018) Genome-wide associations for benign prostatic hyperplasia reveal a genetic correlation with serum levels of PSA. Nature Communications , 9 (1) , Article 4568. 10.1038/s41467-018-06920-9. Green open access

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Abstract

Benign prostatic hyperplasia and associated lower urinary tract symptoms (BPH/LUTS) are common conditions affecting the majority of elderly males. Here we report the results of a genome-wide association study of symptomatic BPH/LUTS in 20,621 patients and 280,541 controls of European ancestry, from Iceland and the UK. We discovered 23 genome-wide significant variants, located at 14 loci. There is little or no overlap between the BPH/LUTS variants and published prostate cancer risk variants. However, 15 of the variants reported here also associate with serum levels of prostate specific antigen (PSA) (at a Bonferroni corrected P < 0.0022). Furthermore, there is a strong genetic correlation, rg = 0.77 (P = 2.6 × 10-11), between PSA and BPH/LUTS, and one standard deviation increase in a polygenic risk score (PRS) for BPH/LUTS increases PSA levels by 12.9% (P = 1.6×10-55). These results shed a light on the genetic background of BPH/LUTS and its substantial influence on PSA levels.

Type: Article
Title: Genome-wide associations for benign prostatic hyperplasia reveal a genetic correlation with serum levels of PSA
Location: England
Open access status: An open access version is available from UCL Discovery
DOI: 10.1038/s41467-018-06920-9
Publisher version: https://doi.org/10.1038/s41467-018-06920-9
Language: English
Additional information: This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Health Informatics
URI: https://discovery.ucl.ac.uk/id/eprint/10061632
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