Friday, 1 July 2016

New MS progressive Gene is Rubbish?

Recently we posted that a Canadian group had found a gene is a family that may be associated with progression 

http://multiple-sclerosis-research.blogspot.com/2016/06/progressive-ms-gene-discovered.html

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time the whole world thinks that there is a progressive MS gene or you can use social media of epublishing (seemingly not peer reviewed) to get it out that you think the work is rubbish.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
  

3 comments:

  1. There are families in the UK that have members with progressive MS and not because of environmental factors. The actual gene may be wrong, but dismissing the idea is not helpful. The actual disease and devastation this causes means the family may not come forward for testing. Also, there is a lack of co-ordination with genetics research. The scientists will do their bit, but it's not easy to volunteer for research when you know you have a rare disease.

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    Replies
    1. We thank all those people who participate in research.

      Dismissing the idea is not helpful...why?. It is obvious that genetics plays a part in the development of progression such that black people and males are more at risk. Likewise those who are older are more at risk.

      Is this the gene causing ms? If it is irrelevant, people who testing their gene status is irrelevant. Maybe if it were real then it could influence your treatment choice.

      Delete
  2. I don't know why not also focus on trying to understand the true implications of viral infection, the microglia, hormones and vitamin D deficiency with the disease and genetic factors ...
    I think it would be simpler, for example ...

    ReplyDelete

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