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Genetic analysis of impaired trimethylamine metabolism using whole exome sequencing

Overview of attention for article published in BMC Medical Genetics, February 2017
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About this Attention Score

  • In the top 5% of all research outputs scored by Altmetric
  • One of the highest-scoring outputs from this source (#3 of 736)
  • High Attention Score compared to outputs of the same age (96th percentile)

Mentioned by

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7 news outlets
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5 tweeters

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13 Mendeley
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Title
Genetic analysis of impaired trimethylamine metabolism using whole exome sequencing
Published in
BMC Medical Genetics, February 2017
DOI 10.1186/s12881-017-0369-8
Pubmed ID
Authors

Yiran Guo, Liang-Dar Hwang, Jiankang Li, Jason Eades, Chung Wen Yu, Corrine Mansfield, Alexis Burdick-Will, Xiao Chang, Yulan Chen, Fujiko F. Duke, Jianguo Zhang, Steven Fakharzadeh, Paul Fennessey, Brendan J. Keating, Hui Jiang, Hakon Hakonarson, Danielle R. Reed, George Preti

Abstract

Trimethylaminuria (TMAU) is a genetic disorder whereby people cannot convert trimethylamine (TMA) to its oxidized form (TMAO), a process that requires the liver enzyme FMO3. Loss-of-function variants in the FMO3 gene are a known cause of TMAU. In addition to the inability to metabolize TMA precursors like choline, patients often emit a characteristic odor because while TMAO is odorless, TMA has a fishy smell. The Monell Chemical Senses Center is a research institute with a program to evaluate people with odor complaints for TMAU. Here we evaluated ten subjects by (1) odor evaluation by a trained sensory panel, (2) analysis of their urine concentration of TMA relative to TMAO before and after choline ingestion, and (3) whole exome sequencing as well as subsequent variant analysis of all ten samples to investigate the genetics of TMAU. While all subjects reported they often emitted a fish-like odor, none had this malodor during sensory evaluation. However, all were impaired in their ability to produce >90% TMAO/TMA in their urine and thus met the criteria for TMAU. To probe for genetic causes, the exome of each subject was sequenced, and variants were filtered by genes with a known (FMO3) or expected effect on TMA metabolism function (other oxidoreductases). We filtered the remaining variants by allele frequency and predicated functional effects. We identified one subject that had a rare loss-of-function FMO3 variant and six with more common decreased-function variants. In other oxidoreductases genes, five subjects had four novel rare single-nucleotide polymorphisms as well as one rare insertion/deletion. Novel in this context means no investigators have previously linked these variants to TMAU although they are in dbSNP. Thus, variants in genes other than FMO3 may cause TMAU and the genetic variants identified here serve as a starting point for future studies of impaired TMA metabolism.

Twitter Demographics

The data shown below were collected from the profiles of 5 tweeters who shared this research output. Click here to find out more about how the information was compiled.

Mendeley readers

The data shown below were compiled from readership statistics for 13 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 13 100%

Demographic breakdown

Readers by professional status Count As %
Unspecified 3 23%
Student > Bachelor 3 23%
Student > Master 3 23%
Other 1 8%
Student > Postgraduate 1 8%
Other 2 15%
Readers by discipline Count As %
Unspecified 3 23%
Biochemistry, Genetics and Molecular Biology 3 23%
Agricultural and Biological Sciences 3 23%
Psychology 1 8%
Decision Sciences 1 8%
Other 2 15%

Attention Score in Context

This research output has an Altmetric Attention Score of 54. 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 21 April 2018.
All research outputs
#274,318
of 12,494,204 outputs
Outputs from BMC Medical Genetics
#3
of 736 outputs
Outputs of similar age
#14,944
of 377,780 outputs
Outputs of similar age from BMC Medical Genetics
#1
of 1 outputs
Altmetric has tracked 12,494,204 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 97th percentile: it's in the top 5% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 736 research outputs from this source. They receive a mean Attention Score of 2.7. This one has done particularly well, scoring higher than 99% of its peers.
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 377,780 tracked outputs that were published within six weeks on either side of this one in any source. This one has done particularly well, scoring higher than 96% of its contemporaries.
We're also able to compare this research output to 1 others from the same source and published within six weeks on either side of this one. This one has scored higher than all of them