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Population diversity of the genetically determined TTR expression in human tissues and its implications in TTR amyloidosis

Overview of attention for article published in BMC Genomics, March 2017
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Title
Population diversity of the genetically determined TTR expression in human tissues and its implications in TTR amyloidosis
Published in
BMC Genomics, March 2017
DOI 10.1186/s12864-017-3646-1
Pubmed ID
Authors

Andrea Iorio, Flavio De Angelis, Marco Di Girolamo, Marco Luigetti, Luca G. Pradotto, Anna Mazzeo, Sabrina Frusconi, Filomena My, Dario Manfellotto, Maria Fuciarelli, Renato Polimanti

Abstract

Transthyretin (TTR) amyloidosis is a hereditary disease with a complex genotype-phenotype correlation. We conducted a literature survey to define the clinical landscape of TTR amyloidosis across populations worldwide. Then, we investigated whether the genetically determined TTR expression differs among human populations, contributing to the differences observed in patients. Polygenic scores for genetically determined TTR expression in 14 clinically relevant tissues were constructed using data from the GTEx (Genotype-Tissue Expression) project and tested in the samples from the 1,000 Genomes Project. We observed differences among the ancestral groups and, to a lesser extent, among the investigated populations within the ancestry groups. Scandinavian populations differed in their genetically determined TTR expression of skeletal muscle tissue with respect to Southern Europeans (p = 6.79*10(-6)). This is in line with epidemiological data related to Swedish and Portuguese TTR Val30Met endemic areas. Familial amyloidotic cardiomyopathy (TTR deposits occur primarily in heart tissues) presents clinical variability among human populations, a finding that agrees with the among-ancestry diversity of genetically determined TTR expression in heart tissues (i.e., Atrial Appendage p = 4.55*10(-28); Left Ventricle p = 6.54*10(-35)). Genetically determined TTR expression varied across human populations. This might contribute to the genotype-phenotype correlation of TTR amyloidosis.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 29 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 29 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 6 21%
Student > Ph. D. Student 5 17%
Student > Master 3 10%
Professor 2 7%
Other 1 3%
Other 1 3%
Unknown 11 38%
Readers by discipline Count As %
Medicine and Dentistry 6 21%
Biochemistry, Genetics and Molecular Biology 4 14%
Neuroscience 4 14%
Agricultural and Biological Sciences 1 3%
Pharmacology, Toxicology and Pharmaceutical Science 1 3%
Other 1 3%
Unknown 12 41%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 2. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 26 March 2017.
All research outputs
#14,928,316
of 22,961,203 outputs
Outputs from BMC Genomics
#6,159
of 10,686 outputs
Outputs of similar age
#184,659
of 309,217 outputs
Outputs of similar age from BMC Genomics
#119
of 203 outputs
Altmetric has tracked 22,961,203 research outputs across all sources so far. This one is in the 32nd percentile – i.e., 32% of other outputs scored the same or lower than it.
So far Altmetric has tracked 10,686 research outputs from this source. They receive a mean Attention Score of 4.7. This one is in the 37th percentile – i.e., 37% of its peers scored the same or lower than it.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 309,217 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 37th percentile – i.e., 37% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 203 others from the same source and published within six weeks on either side of this one. This one is in the 36th percentile – i.e., 36% of its contemporaries scored the same or lower than it.