ArticleHuman genetics2020
ATP7B variant penetrance explains differences between genetic and clinical prevalence estimates for Wilson disease.
Article in Human genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
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Who cites it
32 citing papers in PubMed, 74 citations in OpenAlex.
- Evaluation of Ultrasound-Based Parameters for the Assessment of Hepatic Steatosis and Fibrosis in Hungarian Wilson's Disease Patients.Diagnostics (Basel, Switzerland) · 2026Article
- Genetic variants underlying precancerous conditions of hepatocellular carcinoma.International journal of cancer · 2026Review
- The pathogenesis of liver fibrosis in Wilson's disease: hepatocyte injury and regulation mediated by copper metabolism dysregulation.Biometals : an international journal on the role of metal ions in biology, biochemistry, and medicine · 2026Review
- Global burden of Wilson disease: a comprehensive evidence synthesis.Orphanet journal of rare diseases · 2026Article
- Novel and less invasive biomarker assays to measure liver ATP7B in Wilson disease patients.Scientific reports · 2025Article
- Insights into the coexistence of WilsonLiver research (Beijing, China) · 2025Article
- Actionable genetic variants in 4,198 Scottish participants from the Orkney and Shetland founder populations and implementation of return of results.American journal of human genetics · 2025Article
- Practical and Multidisciplinary Review on Wilson Disease: The Portuguese Perspective.GE Portuguese journal of gastroenterology · 2025Review
- Diagnostic Dilemmas of Wilson's Disease.Cureus · 2025Article
- Investigating common mutations in ATP7B gene and the prevalence of Wilson's disease in the Thai population using population-based genome-wide datasets.Journal of human genetics · 2025Article
- Chinese Multidisciplinary Expert Consensus on Orphan/Anticopper Drugs and Other Non-drug Management of Hepatolenticular Degeneration.Current neuropharmacology · 2025Review
- Clinical and genetic characterization of patients with late onset Wilson's disease.NPJ genomic medicine · 2024Article
- Epidemiology of Wilson disease in Germany - real-world insights from a claims data study.Orphanet journal of rare diseases · 2024Article
- Using genomic databases to determine the frequency and population-based heterogeneity of autosomal recessive conditions.Genetics in medicine open · 2024Article
- Late-onset Wilson Disease in a Patient Followed-up for Nonalcoholic Fatty Liver Disease.Internal medicine (Tokyo, Japan) · 2024Article
- Medical care of patients with Wilson disease in Germany: a multidisciplinary survey among university centers.Orphanet journal of rare diseases · 2023Article
- Antioxidant Capacity Is Decreased in Wilson's Disease and Correlates to Liver Function.Biological trace element research · 2023Article
- Wilson's Disease-Genetic Puzzles with Diagnostic Implications.Diagnostics (Basel, Switzerland) · 2023Review
- A novel nomogram based on routine clinical indicators for screening for Wilson's disease.Liver research (Beijing, China) · 2023Article
- A Century of Progress on Wilson Disease and the Enduring Challenges of Genetics, Diagnosis, and Treatment.Biomedicines · 2023Article
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Authors and funding
2 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Wilson disease (WD) is a genetic disorder of copper metabolism caused by variants in the copper transporting P-type ATPase gene ATP7B. Estimates for WD population prevalence vary with 1 in 30,000 generally quoted. However, some genetic studies have reported much higher prevalence rates. The aim of this study was to estimate the population prevalence of WD and the pathogenicity/penetrance of WD variants by determining the frequency of ATP7B variants in a genomic sequence database. A catalogue of WD-associated ATP7B variants was constructed, and then, frequency information for these was extracted from the gnomAD data set. Pathogenicity of variants was assessed by (a) comparing gnomAD allele frequencies against the number of reports for variants in the WD literature and (b) using variant effect prediction algorithms. 231 WD-associated ATP7B variants were identified in the gnomAD data set, giving an initial estimated population prevalence of around 1 in 2400. After exclusion of WD-associated ATP7B variants with predicted low penetrance, the revised estimate showed a prevalence of around 1 in 20,000, with higher rates in the Asian and Ashkenazi Jewish populations. Reanalysis of other recent genetic studies using our penetrance criteria also predicted lower population prevalences for WD in the UK and France than had been reported. Our results suggest that differences in variant penetrance can explain the discrepancy between reported epidemiological and genetic prevalences of WD. They also highlight the challenge in defining penetrance when assigning causality to some ATP7B variants.
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