ArticleHuman mutation2016
Putative Prostate Cancer Risk SNP in an Androgen Receptor-Binding Site of the Melanophilin Gene Illustrates Enrichment of Risk SNPs in Androgen Receptor Target Sites.
Article in Human mutation, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 3 of them syntheses that pooled it.
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Who cites it
23 citing papers in PubMed, 3 syntheses or guidelines pooled it, 39 citations in OpenAlex.
- Systemic lupus erythematosus and prostate cancer risk: a pool of cohort studies and Mendelian randomization analysis.Journal of cancer research and clinical oncology · 2023Pooled it
- Androgen receptor binding sites enabling genetic prediction of mortality due to prostate cancer in cancer-free subjects.Nature communications · 2023Pooled it
- The landscape of GWAS validation; systematic review identifying 309 validated non-coding variants across 130 human diseases.BMC medical genomics · 2022Pooled it
- Molecular determinants of AR-enhancer interaction and cistrome reprogramming in prostate cancer progression.Endocrine-related cancer · 2026Review
- Integrative genomic profiling identifies MLPH as a candidate gene in prostate cancer.Frontiers in medicine · 2026Article
- The association between three prevalent autoimmune disorders and the likelihood of developing prostate cancer: a Mendelian randomization study.Scientific reports · 2024Article
- Unravelling the Role of Iroquois Homeobox 4 and its Interplay with Androgen Receptor in Prostate Cancer.Research square · 2023Article
- Polympact: exploring functional relations among common human genetic variants.Nucleic acids research · 2022Article
- The Causal Relationships Between Extrinsic Exposures and Risk of Prostate Cancer: A Phenome-Wide Mendelian Randomization Study.Frontiers in oncology · 2022Article
- Article
- H3K27ac HiChIP in prostate cell lines identifies risk genes for prostate cancer susceptibility.American journal of human genetics · 2021Article
- Somatic Alterations Impact AR Transcriptional Activity and Efficacy of AR-Targeting Therapies in Prostate Cancer.Cancers · 2021Review
- Evolutionary selection of alleles in the melanophilin gene that impacts on prostate organ function and cancer risk.Evolution, medicine, and public health · 2021Article
- Hereditary Predisposition to Prostate Cancer: From Genetics to Clinical Implications.International journal of molecular sciences · 2020Review
- Androgen receptor co-regulation in prostate cancer.Asian journal of urology · 2020Review
- DNA methylation and cis-regulation of gene expression by prostate cancer risk SNPs.PLoS genetics · 2020Article
- MLPH Accelerates the Epithelial-Mesenchymal Transition in Prostate Cancer.OncoTargets and therapy · 2020Article
- Single-nucleotide polymorphism rs13426236 contributes to an increased prostate cancer risk via regulating MLPH splicing variant 4.Molecular carcinogenesis · 2020Article
- Post-GWAS in prostate cancer: from genetic association to biological contribution.Nature reviews. Cancer · 2019Review
- Low Free Testosterone and Prostate Cancer Risk: A Collaborative Analysis of 20 Prospective Studies.European urology · 2018Article
Corrections and comments
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Authors and funding
11 authors at 8 institutions in 4 countries.
Funding
Abstract
Genome-wide association studies have identified genomic loci, whose single-nucleotide polymorphisms (SNPs) predispose to prostate cancer (PCa). However, the mechanisms of most of these variants are largely unknown. We integrated chromatin-immunoprecipitation-coupled sequencing and microarray expression profiling in TMPRSS2-ERG gene rearrangement positive DUCaP cells with the GWAS PCa risk SNPs catalog to identify disease susceptibility SNPs localized within functional androgen receptor-binding sites (ARBSs). Among the 48 GWAS index risk SNPs and 3,917 linked SNPs, 80 were found located in ARBSs. Of these, rs11891426:T>G in an intron of the melanophilin gene (MLPH) was within a novel putative auxiliary AR-binding motif, which is enriched in the neighborhood of canonical androgen-responsive elements. T→G exchange attenuated the transcriptional activity of the ARBS in an AR reporter gene assay. The expression of MLPH in primary prostate tumors was significantly lower in those with the G compared with the T allele and correlated significantly with AR protein. Higher melanophilin level in prostate tissue of patients with a favorable PCa risk profile points out a tumor-suppressive effect. These results unravel a hidden link between AR and a functional putative PCa risk SNP, whose allele alteration affects androgen regulation of its host gene MLPH.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.