Jun 26, 2018

Whole blood transcriptome analysis in amyotrophic lateral sclerosis: A biomarker study

PloS One
Wouter van RheenenLeonard H van den Berg

Abstract

The biological pathways involved in amyotrophic lateral sclerosis (ALS) remain elusive and diagnostic decision-making can be challenging. Gene expression studies are valuable in overcoming such challenges since they can shed light on differentially regulated pathways and may ultimately identify valuable biomarkers. This two-stage transcriptome-wide study, including 397 ALS patients and 645 control subjects, identified 2,943 differentially expressed transcripts predominantly involved in RNA binding and intracellular transport. When batch effects between the two stages were overcome, three different models (support vector machines, nearest shrunken centroids, and LASSO) discriminated ALS patients from control subjects in the validation stage with high accuracy. The models' accuracy reduced considerably when discriminating ALS from diseases that mimic ALS clinically (N = 75), nor could it predict survival. We here show that whole blood transcriptome profiles are able to reveal biological processes involved in ALS. Also, this study shows that using these profiles to differentiate between ALS and mimic syndromes will be challenging, even when taking batch effects in transcriptome data into account.

  • References38
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References

  • References38
  • Citations1

Citations

Mentioned in this Paper

Biological Markers
Genome-Wide Association Study
Support Vector Machines
Study
Biochemical Pathway
Decision Making
Whole Blood
Intracellular Transport
Facial Tic Disorder
Incidence Studies

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