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  The homozygosity index (HI) approach reveals high allele frequency for Wilson disease in the Sardinian population

Gialluisi, A., Incollu, S., Pippucci, T., Lepori, M. B., Zappu, A., Loudianos, G., et al. (2013). The homozygosity index (HI) approach reveals high allele frequency for Wilson disease in the Sardinian population. European Journal of Human Genetics, 21, 1308-1311. doi:10.1038/ejhg.2013.43.

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Gialluisi, Alessandro1, 2, 3, Author           
Incollu, Simona4, Author
Pippucci, Tommaso4, Author
Lepori, Maria Barbara4, Author
Zappu, Antonietta4, Author
Loudianos, Georgios5, Author
Romeo, Giovanni4, 6, Author
Affiliations:
1Language and Genetics Department, MPI for Psycholinguistics, Max Planck Society, ou_792549              
2International Max Planck Research School for Language Sciences, MPI for Psycholinguistics, Max Planck Society, Nijmegen, NL, ou_1119545              
3Unità Operativa di Genetica Medica, Dipartimento di Scienze Mediche e Chirurgiche Policlinico Sant'Orsola-Malpighi, Bologna, Italy, ou_persistent22              
4Dipartimento delle Scienze Biomediche e Biotecnologie, Università di Cagliari, Cagliari, Italy, ou_persistent22              
5Ospedale Regionale per le Microcitemie, Cagliari, Italy, ou_persistent22              
6European Genetics Foundation, Bologna, Italy, ou_persistent22              

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 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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Language(s): eng - English
 Dates: 201220132013
 Publication Status: Published in print
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 Rev. Type: Peer
 Identifiers: DOI: 10.1038/ejhg.2013.43
PMID: 23486543
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Title: European Journal of Human Genetics
  Other : Eur. J. Hum. Genet.
Source Genre: Journal
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Publ. Info: Basel : Karger
Pages: - Volume / Issue: 21 Sequence Number: - Start / End Page: 1308 - 1311 Identifier: ISSN: 1018-4813
CoNE: https://pure.mpg.de/cone/journals/resource/954925585277_1