A possible role for miRNA silencing in disease phenotype variation in Swedish transthyretin V30M carriers
2010 (English)In: BMC Medical Genetics, ISSN 1471-2350, Vol. 11, 130- p.Article in journal (Refereed) Published
Our results are the first to show the presence of a 3'UTR polymorphism on the V30M haplotype in Swedish carriers, which can serve as a miRNA binding site potentially leading to down-regulated expression from the mutated TTR allele. This finding may be related to the low penetrance and high age at onset of the disease observed in the Swedish patient population.
Place, publisher, year, edition, pages
2010. Vol. 11, 130- p.
Allele Frequency; Amyloidosis; Amyloid Neuropathies, Familial; Humans; MicroRNA; Polymorphism, Single Nucleotide; Transthyretin; 3' Untranslated Regions/genetics
Research subject Genetics
IdentifiersURN: urn:nbn:se:umu:diva-39677DOI: 10.1186/1471-2350-11-130ISI: 000283195800001PubMedID: 20840742OAI: oai:DiVA.org:umu-39677DiVA: diva2:394687