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A common variant located in the 3′UTR of the RET gene is associated with protection from Hirschsprung disease

✍ Scribed by Paola Griseri; Francesca Lantieri; Francesca Puppo; Tiziana Bachetti; Marco Di Duca; Roberto Ravazzolo; Isabella Ceccherini

Publisher: John Wiley and Sons
Year: 2007
Tongue: English
Weight: 381 KB
Volume: 28
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.20397

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✦ Synopsis

Complex diseases are common genetic disorders showing familial aggregation but no typical Mendelian inheritance. Hirschsprung disease (HSCR), a developmental disorder characterized by the absence of enteric neurons in distal segments of the gut, shows a complex pattern of inheritance, with the RET protooncogene acting as a major gene and additional susceptibility loci playing minor roles. In the last years, we have identified a "protective" RET haplotype, which is underrepresented in HSCR patients with respect to controls. Here, we demonstrate that the protective effect of this haplotype is due to a variant located in the 3' untranslated region (UTR) of the RET gene, which slows down the physiological mRNA decay of the gene transcripts. Such a functional effect of this common RET variant explains the under-representation of the whole haplotype and its role as a modifying factor in HSCR pathogenesis.

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