Invisible Illness Awareness Week 2016: Our Voices Need to Be Heard
Never heard of Invisible Illness Awareness Week? You're not alone. Jody Smith sheds a little light to make it more visible
Discuss the article on the Forums.

The genetic origins of 21 autoimmune diseases revealed by molecular map

Discussion in 'Other Health News and Research' started by Ecoclimber, Nov 22, 2014.

  1. Ecoclimber

    Ecoclimber Senior Member

    Messages:
    980
    Likes:
    2,402

    Continue reading here.


     
    Last edited by a moderator: Nov 24, 2014
    snowathlete, NK17, merylg and 6 others like this.
  2. Snow Leopard

    Snow Leopard Hibernating

    Messages:
    4,573
    Likes:
    12,112
    South Australia
  3. alex3619

    alex3619 Senior Member

    Messages:
    12,252
    Likes:
    33,598
    Logan, Queensland, Australia
    I had always presumed that in studying snps for disease people considered regulatory elements unless the study was a small pilot study. I guess I was wrong .This was so obvious that I presumed it was being done. My bad. It should be done more often.

    Of course this is stage one, the finding of candidate genetic causes. Further research will be required.
     
    NK17 likes this.
  4. Valentijn

    Valentijn The Diabolic Logic

    Messages:
    14,063
    Likes:
    43,698
    @alex3619 - Approximately 85% of disease-causing SNP mutations are in the coding regions, so that's where a lot of research has been focused. Whereas the regulatory regions would be outside of those regions.

    Within the coding regions it's also much easier to see the direct impact of a mutation. The codons in the genetic code are spelling out what a protein should look like, and it's easy to predict the effects of a change in a codon. And that makes it a lot easier for researchers to know exactly what they are looking for and to confirm that a mutation has a physiological impact and isn't just a false positive with no impact on gene functioning.

    So outside of coding regions they're usually relying on allele frequencies in patients versus healthy controls. And then the statistics get more complicated, and someone looking at thousands of SNPs is bound to find some random differences between the groups. These also tend to have VERY small effect sizes so far, compared to disease causing SNPs, so I always want to see those before believing that anything useful was found.
     
    Ecoclimber, snowathlete, NK17 and 2 others like this.
  5. alex3619

    alex3619 Senior Member

    Messages:
    12,252
    Likes:
    33,598
    Logan, Queensland, Australia
    Even large effect sizes are not certain. That is why I say further research is needed. Effect sizes are an indicator though, and small effect sizes are especially dubious.
     

See more popular forum discussions.

Share This Page