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The association between OTUD4 and prostate cancer is supported by epigenetic evidence from multi‑patient studies. In one study, quantitative pyrosequencing of 28 candidate genes demonstrated that aberrant promoter methylation, including that of OTUD4, distinguished prostate cancer (n = 48) from benign prostatic hyperplasia (n = 29) (PMID:21694441). A subsequent independent study in African‑American men confirmed differential methylation of OTUD4 along with other markers, correlating with clinicopathological features (PMID:30204798).
While these methylation studies suggest a potential role for OTUD4 as a diagnostic biomarker in prostate cancer, the overall evidence remains limited due to the absence of coding variant data, segregation analysis, or functional assays specific to prostate cancer. Therefore, although the observed epigenetic alterations have clinical relevance for risk stratification, further research is required to solidify the gene-disease association.
Gene–Disease AssociationLimitedAberrant OTUD4 methylation observed in 48 prostate cancer cases versus 29 benign cases (PMID:21694441) and confirmed in a replication study (PMID:30204798) supports a limited association, constrained by the lack of reported coding variants or familial segregation. Genetic EvidenceLimitedObservational methylation differences provide preliminary evidence despite the absence of sequence variants or segregation data typically required for a robust genetic association. Functional EvidenceLimitedNo prostate cancer-specific functional assays for OTUD4 were reported; existing functional studies focus on alternative phenotypes, limiting direct mechanistic insights for prostate cancer. |