ArticleEuropean journal of human genetics : EJHG2013
The homozygosity index (HI) approach reveals high allele frequency for Wilson disease in the Sardinian population.
Article in European journal of human genetics : EJHG, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 18 papers, 1 of them a synthesis that pooled it.
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18 citing papers in PubMed, 1 synthesis or guideline pooled it, 47 citations in OpenAlex.
- The global prevalence of Wilson disease from next-generation sequencing data.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Pooled it
- Global burden of Wilson disease: a comprehensive evidence synthesis.Orphanet journal of rare diseases · 2026Article
- Epidemiology of Wilson's Disease and Pathogenic Variants of theInternational journal of molecular sciences · 2024Review
- Wilson's Disease: Facing the Challenge of Diagnosing a Rare Disease.Biomedicines · 2021Review
- Prevalent Pathogenic Variants ofGenes · 2021Article
- Are the new genetic tools for diagnosis of Wilson disease helpful in clinical practice?JHEP reports : innovation in hepatology · 2020Review
- Genotype-phenotype variable correlation in Wilson disease: clinical history of two sisters with the similar genotype.BMC medical genetics · 2020Article
- Predictors of caregiver burden in patients with neurologic Wilson disease.The Journal of international medical research · 2020Article
- Cardiac and autonomic function in patients with Wilson's disease.Orphanet journal of rare diseases · 2019Article
- An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.Database : the journal of biological databases and curation · 2019Article
- Wilson's disease in Lebanon and regional countries: Homozygosity and hepatic phenotype predominance.World journal of gastroenterology · 2017Observational
- Wilson's Disease in China.Neuroscience bulletin · 2017Review
- A novel founder MYO15A frameshift duplication is the major cause of genetic hearing loss in Oman.Journal of human genetics · 2017Article
- PAI-1 4G-4G and MTHFR 677TT in non-hepatitis C virus/hepatitis B virus-related liver cirrhosis.World journal of hepatology · 2015Article
- Wilson's disease: A review of what we have learned.World journal of hepatology · 2015Article
- Reply to ten Kate et al.European journal of human genetics : EJHG · 2014Article
- Comment on Gialluisi et al.European journal of human genetics : EJHG · 2014Article
- The high prevalence of hereditary spastic paraplegia in Sardinia, insular Italy.Journal of neurology · 2014Article
Corrections and comments
- Commented on by
- Erratum issued
Authors and funding
7 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Wilson disease (WD) is an autosomal recessive disorder resulting in pathological progressive copper accumulation in liver and other tissues. The worldwide prevalence (P) is about 30/million, while in Sardinia it is in the order of 1/10,000. However, all of these estimates are likely to suffer from an underdiagnosis bias. Indeed, a recent molecular neonatal screening in Sardinia reported a WD prevalence of 1:2707. In this study, we used a new approach that makes it possible to estimate the allelic frequency (q) of an autosomal recessive disorder if one knows the proportion between homozygous and compound heterozygous patients (the homozygosity index or HI) and the inbreeding coefficient (F) in a sample of affected individuals. We applied the method to a set of 178 Sardinian individuals (3 of whom born to consanguineous parents), each with a clinical and molecular diagnosis of WD. Taking into account the geographical provenance of the parents of every patient within Sardinia (to make F computation more precise), we obtained a q=0.0191 (F=7.8 × 10(-4), HI=0.476) and a corresponding prevalence P=1:2732. This result confirms that the prevalence of WD is largely underestimated in Sardinia. On the other hand, the general reliability and applicability of the HI approach to other autosomal recessive disorders is confirmed, especially if one is interested in the genetic epidemiology of populations with high frequency of consanguineous marriages.
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