ArticleNature communications2020
A rare variant of African ancestry activates 8q24 lncRNA hub by modulating cancer associated enhancer.
Article in Nature communications, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 1 of them a synthesis that pooled it.
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Who cites it
28 citing papers in PubMed, 1 synthesis or guideline pooled it, 40 citations in OpenAlex.
- The landscape of GWAS validation; systematic review identifying 309 validated non-coding variants across 130 human diseases.BMC medical genomics · 2022Pooled it
- Epigenetic modulation of prostate cancer disparities in men with African ancestry.Nature reviews. Urology · 2026Review
- NF-κB Signaling in Prostate Cancer Progression: Inflammatory Mediators, Survival Pathways, and Regulatory Axes.Cancers · 2026Review
- Non-coding genetic variants underlying higher prostate cancer risk in men of African ancestry.Nature communications · 2025Article
- Genomic landscape of cancer in racially and ethnically diverse populations.Nature reviews. Genetics · 2025Review
- Current landscape of cancer genomics research in sub-Saharan Africa - a review of literature.Frontiers in oncology · 2025Review
- Racial disparity in prostate cancer: an outlook in genetic and molecular landscape.Cancer metastasis reviews · 2024Review
- Genetic and biological drivers of prostate cancer disparities in Black men.Nature reviews. Urology · 2024Review
- Benchmarking multi-ancestry prostate cancer polygenic risk scores in a real-world cohort.PLoS computational biology · 2024Article
- Prostate cancer genetic risk and associated aggressive disease in men of African ancestry.Nature communications · 2023Article
- Genome-wide enhancer-gene regulatory maps link causal variants to target genes underlying human cancer risk.Nature communications · 2023Article
- Tackling the lack of diversity in cancer research.Disease models & mechanisms · 2023Article
- Racism Does Not Cause Prostate Cancer, It Causes Prostate Cancer Death.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2023Article
- De novo human brain enhancers created by single-nucleotide mutations.Science advances · 2023Article
- Extensive set of African ancestry-informative markers (AIMs) to study ancestry and population health.Frontiers in genetics · 2023Article
- Ancestry: How researchers use it and what they mean by it.Frontiers in genetics · 2023Article
- Enhancer RNA (eRNA) in Human Diseases.International journal of molecular sciences · 2022Review
- Prostate cancer risk in men of differing genetic ancestry and approaches to disease screening and management in these groups.British journal of cancer · 2022Review
- Novel forms of prostate cancer chemoresistance to successful androgen deprivation therapy demand new approaches: Rationale for targeting BET proteins.The Prostate · 2022Review
- Health inequity drives disease biology to create disparities in prostate cancer outcomes.The Journal of clinical investigation · 2022Review
Corrections and comments
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Authors and funding
14 authors at 4 institutions in 2 countries.
Funding
Abstract
Genetic variation at the 8q24 locus is linked with the greater susceptibility to prostate cancer in men of African ancestry. One such African ancestry specific rare variant, rs72725854 (A>G/T) (~6% allele frequency) has been associated with a ~2-fold increase in prostate cancer risk. However, the functional relevance of this variant is unknown. Here we show that the variant rs72725854 is present in a prostate cancer-specific enhancer at 8q24 locus. Chromatin-conformation capture and dCas9 mediated enhancer blocking establish a direct regulatory link between this enhancer and lncRNAs PCAT1, PRNCR1 and PVT1. The risk allele ('T') is associated with higher expression of PCAT1, PVT1 and c-myc in prostate tumors. Further, enhancer with the risk allele gains response to androgen stimulation by recruiting the transcription factor SPDEF whereas, non-risk alleles remain non-responsive. Elevated expression of these lncRNAs and c-myc in risk allele carriers may explain their greater susceptibility to prostate cancer.
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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.