ArticleNature genetics2016
The contribution of rare variation to prostate cancer heritability.
Article in Nature genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 88 papers, 3 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
88 citing papers in PubMed, 3 syntheses or guidelines pooled it, 157 citations in OpenAlex.
- Rare variant analysis in eczema identifies exonic variants in DUSP1, NOTCH4 and SLC9A4.Nature communications · 2021Pooled it
- Meta-analysis of five genome-wide association studies identifies multiple new loci associated with testicular germ cell tumor.Nature genetics · 2017Pooled it
- Association between XRCC3 Thr241Met polymorphism and nasopharyngeal carcinoma risk: evidence from a large-scale case-control study and a meta-analysis.Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine · 2016Pooled it
- Recruitment strategies in the PROMISE Registry: Evaluating institutional outreach, direct-to-patient marketing, and community engagement approaches in a decentralized germline genetic registry.Contemporary clinical trials communications · 2026Article
- UK Biobank whole-genome sequencing reveals robust contributions of rare variants to complex-trait heritability.Genome biology · 2026Article
- Article
- How to Diagnose Abhorrent Science.The Hastings Center report · 2024Article
- Genes with differential expression across ancestries are enriched in ancestry-specific disease effects likely due to gene-by-environment interactions.American journal of human genetics · 2024Article
- Heterogeneous genetic architectures of prostate cancer susceptibility in sub-Saharan Africa.Nature genetics · 2024Article
- A method to estimate the contribution of rare coding variants to complex trait heritability.Nature communications · 2024Article
- Understanding the Biological Basis of Polygenic Risk Scores and Disparities in Prostate Cancer: A Comprehensive Genomic Analysis.Cancer informatics · 2024Article
- Ancestry-specific regulatory and disease architectures are likely due to cell-type-specific gene-by-environment interactions.medRxiv : the preprint server for health sciences · 2023Article
- Heterogeneous genetic architectures and evolutionary genomics of prostate cancer in Sub-Saharan Africa.Research square · 2023Article
- Genes encoding agrin (AGRN) and neurotrypsin (PRSS12) are associated with muscle mass, strength and plasma C-terminal agrin fragment concentration.GeroScience · 2023Article
- SNP-Based Heritability of Osteochondrosis Dissecans in Hanoverian Warmblood Horses.Animals : an open access journal from MDPI · 2023Article
- A method for an unbiased estimate of cross-ancestry genetic correlation using individual-level data.Nature communications · 2023Article
- Bayesian linear mixed model with multiple random effects for family-based genetic studies.Frontiers in genetics · 2023Article
- Quantifying the Contributions of Environmental Factors to Prostate Cancer and Detecting Risk-Related Diet Metrics and Racial Disparities.Cancer informatics · 2023Article
- Polygenic Risk Scores for Cardiovascular Disease: A Scientific Statement From the American Heart Association.Circulation · 2022Review
- Genetic interactions drive heterogeneity in causal variant effect sizes for gene expression and complex traits.American journal of human genetics · 2022Article
28 more citing papers are in PubMed but not listed here.
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Authors and funding
23 authors at 8 institutions in 3 countries.
Funding
Abstract
We report targeted sequencing of 63 known prostate cancer risk regions in a multi-ancestry study of 9,237 men and use the data to explore the contribution of low-frequency variation to disease risk. We show that SNPs with minor allele frequencies (MAFs) of 0.1-1% explain a substantial fraction of prostate cancer risk in men of African ancestry. We estimate that these SNPs account for 0.12 (standard error (s.e.) = 0.05) of variance in risk (∼42% of the variance contributed by SNPs with MAF of 0.1-50%). This contribution is much larger than the fraction of neutral variation due to SNPs in this class, implying that natural selection has driven down the frequency of many prostate cancer risk alleles; we estimate the coupling between selection and allelic effects at 0.48 (95% confidence interval [0.19, 0.78]) under the Eyre-Walker model. Our results indicate that rare variants make a disproportionate contribution to genetic risk for prostate cancer and suggest the possibility that rare variants may also have an outsize effect on other common traits.
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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.