Frequency of the transthyretin Val30Met mutation in the northern Swedish population
Copyright policy )Frequency of the transthyretin Val30Met mutation in the northern Swedish population
By genotyping a large number of samples from the Northern Sweden Health and Disease Study cohort, a carrier frequency could be determined for the Skellefteå 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 Skellefteå 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 Skellefteå 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 Skellefteå 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.
- Umeå University Sweden
- University Hospital of Umeå Sweden
Cohort Studies, Sweden, Amyloid Neuropathies, Familial, Heterozygote, Gene Frequency, Mutation, Missense, Humans, Prealbumin, Penetrance, Genetic Testing
Cohort Studies, Sweden, Amyloid Neuropathies, Familial, Heterozygote, Gene Frequency, Mutation, Missense, Humans, Prealbumin, Penetrance, Genetic Testing
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