Discussion in 'Other Health News and Research' started by Ecoclimber, Nov 22, 2014.
Continue reading here.
Genetic and epigenetic fine mapping of causal autoimmune disease variants
http://marsonlab.ucsf.edu/sites/marsonlab.ucsf.edu/files/wysiwyg/marson and colleagues_nature.pdf
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.
@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.
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.
You can also try a Google Site Search
Separate names with a comma.