Now you can skuttle off and do some studies to replicate the work and then spend months getting papers published but which time the whole world thinks that there is a progressive MS gene or you can use social media of epublishing (seemingly not peer reviewed) to get it out that you think the work is rubbish.
Who would say that the data was rubbish…someone on twitter?
People were rushing to their data bases to look if they could find any support and so far the answer is they can’t
There are some more doubting Thomas’es or should I say doubting Chris’es (CLICK here)
“Abstract: a recent study by Wang et al claims the low-frequency variant NR1H3 p.Arg415Gln is
pathological for multiple sclerosis and determines a patient’s likelihood of primary progressive
disease. We sought to replicate this finding in the International MS Genetics Consortium
(IMSGC) patient collection, which is 13-fold larger than the collection of Wang et al, but we find
no evidence that this variant is associated either with MS or disease subtype. Wang et al also
report a common variant association in the region, which we show captures the association the
IMSGC reported in 2013. Therefore, we conclude that the reported low-frequency association is
a false positive, likely generated by insufficient sample size. The claim of NR1H3 mutations
describing a Mendelian form of MS, of which no examples exist, can therefore not be
substantiated by data”.
or for more click here
So it may fall by the wayside as an MS gene unless there is something special about these rare families in Canada, such that they have many shared genes and that allow the NR1H3 variant to code for something.
The academic gloves are off.
The progress is about replication