General questions
In which journal was this article published?
Journal of Neuroinflammation
How many participants were in the discovery cohort?
20
How many SNPs were selceted for the validation cohort?
16
What disease is the study based on?
Multiple sclerosis
Which two phenotypes were the two cohorts groups selected from?
Benigne and aggressive
Were the results conclusive? (explain)
Yes
What is the aim of the study?
In the present study, we aimed to identify genes associated with MS disease course by first applying an exome sequencing approach to a discovery cohort of MS patients with benign and aggressive disease courses, followed by the validation of selected genetic variants in two independent cohorts of patients with divergent disease courses.
What is a discovery cohort?
A discovery cohort is a study of the population, from which you collect biomarkers
In which genes did they identify genetic variants?
CPXM2, and NLRP9, IGSF9B
What do you think the impact factor for this journal is? Argument your answer with at least 2 reasons.
5.49
Very specific journal
It has not been cited
How are validation cohorts different from discovery cohorts?
Validation cohorts are "learning machines" where the results from discovery cohorts are tested and applied to suspected populations.
Where (which cells) were all the 3 genes expressions dected?
Macrophages & Microglia
What is the authors' future hope for the results of this study?
"Finally, aiming to provide a personalized medicine in MS, the reported polymorphisms may become disease activity biomarkers to identify MS patients with diverging disease courses."
What tecnique was used to determine the gene expression levels of the three genes in the study?
real time PCR
How did they choose the SNPs? (criterias)
odds to ratio difference
phenotype prevalence
number of SNPs- gene
variant effect
relevance to MS