SLC45A3 and Prostate Cancer

Several genome‑wide association studies (GWAS) have implicated common variants in SLC45A3 (HGNC:8642) as influencing serum prostate‑specific antigen (PSA) levels, a key biomarker used for prostate cancer (MONDO_0008315) screening (PMID:25434496). Although the initial study identified a top SNP in SLC45A3 that correlated with log PSA levels, subsequent analyses in independent cohorts offered mixed results with respect to a direct association with prostate cancer risk, leading to an overall limited confidence in the gene–disease relationship.

The genetic evidence is primarily derived from population‐based studies where SLC45A3 variants were associated with PSA level modulation rather than clear-cut pathogenic coding changes. In addition, while functional studies have been performed for SLC45A3 in other contexts, there is a lack of functional assays that directly elucidate its role in prostate cancer pathogenesis. Thus, although the aggregated results from multiple cohorts suggest that SLC45A3 may contribute to PSA variability, the evidence supporting its direct involvement in prostate cancer remains limited. This association should therefore be interpreted with caution in clinical decision‑making and further investigation is warranted.

References

• Gene • 2015 • Genetic variants at 1q32.1, 10q11.2 and 19q13.41 are associated with prostate‑specific antigen for prostate cancer screening in two Korean population‑based cohort studies PMID:25434496
• European Journal of Cancer Prevention • 2018 • Search for genetic factor association with cancer‑free prostate‑specific antigen level elevation on the basis of a genome‑wide association study in the Korean population PMID:28471803
• Human Genetics • 2013 • Genome‑wide association study identified novel genetic variant on SLC45A3 gene associated with serum levels prostate‑specific antigen (PSA) in a Chinese population PMID:23269536

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