Frequency of the transthyretin Val30Met mutation in the northern Swedish population
2014 (English)In: Amyloid: Journal of Protein Folding Disorders, ISSN 1350-6129, Vol. 21, no 1, 18-20 p.Article in journal (Other academic) Published
By genotyping a large number of samples from the Northern Sweden Health and Disease Study cohort, a carrier frequency could be determined for the Skelleftea and Lycksele populations. A previous study of the amyloidogenic transthyretin mutation TTRV30M in Northern Sweden's endemic area has shown a large variation in carrier frequency and penetrance of the trait within the area. However, the estimations have been based on a small sample size within the different regions in the area and therefore, the wide variation in TTRV30M carrier frequency observed between the Lycksele and Skelleftea populations are uncertain. Based on a total of 3460 samples, the estimated overall carrier frequency in the two regions was 1.82% with a carrier frequency in the Skelleftea and Lycksele population of 1.63% and 2.02%, respectively. Thus, the previously reported extremely high frequency in the Lycksele region compared to that of the Skelleftea region could not be substantiated. However, it does not change the previous finding of a surprisingly higher carrier frequency in the population from endemic area of Northern Sweden compared to that reported from endemic areas in Portugal.
Place, publisher, year, edition, pages
2014. Vol. 21, no 1, 18-20 p.
amyloidosis-hereditary-neuropathic, ATTRV30M (p.ATTRV50M), frequency, genotyping, mutation, transthyretin, TTR c.(Val50Met)
Research subject Genetics
IdentifiersURN: urn:nbn:se:umu:diva-34124DOI: 10.3109/13506129.2013.860027ISI: 000335764200003OAI: oai:DiVA.org:umu-34124DiVA: diva2:319018
Originally published in dissertation in manuscript form.2010-05-122010-05-122014-06-18Bibliographically approved