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Prostate-specific antigen (PSA) levels have been used for detection and surveillance of prostate cancer (PCa). However, factors other than PCa-such as genetics-can impact PSA. Here we present findings from a genome-wide association study (GWAS) of PSA in 28,503 Kaiser Permanente whites and 17,428 men from replication cohorts. We detect 40 genome-wide significant (P<5 × 10-8) single-nucleotide polymorphisms (SNPs): 19 novel, 15 previously identified for PSA (14 of which were also PCa-associated), and 6 previously identified for PCa only. Further analysis incorporating PCa cases suggests that at least half of the 40 SNPs are PSA-associated independent of PCa. The 40 SNPs explain 9.5% of PSA variation in non-Hispanic whites, and the remaining GWAS SNPs explain an additional 31.7%; this percentage is higher in younger men, supporting the genetic basis of PSA levels. These findings provide important information about genetic markers for PSA that may improve PCa screening, thereby reducing over-diagnosis and over-treatment.

Original publication

DOI

10.1038/ncomms14248

Type

Journal article

Journal

Nat Commun

Publication Date

31/01/2017

Volume

8

Keywords

Adult, African Continental Ancestry Group, Aged, Aged, 80 and over, Alleles, Asian Continental Ancestry Group, Biomarkers, Tumor, European Continental Ancestry Group, Gene Expression, Gene Frequency, Genetic Loci, Genome-Wide Association Study, Humans, Male, Middle Aged, Polymorphism, Single Nucleotide, Prostate, Prostate-Specific Antigen, Prostatic Neoplasms