View Full Version : Genetic determinants of common diseases

09-08-17, 04:25
Very cool if they're right...

See: Kanix Wang et al...Classification of common human diseases derived from shared genetic and environmental determinants


"In this study, we used insurance claims for over one-third of the entire US population to create a subset of 128,989 families (481,657 unique individuals). We then used these data to (i) estimate the heritability and familial environmental patterns of 149 diseases and (ii) infer the genetic and environmental correlations for disease pairs from a set of 29 complex diseases. The majority (52 of 65) of our study's heritability estimates matched earlier reports, and 84 of our estimates appear to have been obtained for the first time. We used correlation matrices to compute environmental and genetic disease classifications and corresponding reliability measures. Among unexpected observations, we found that migraine, typically classified as a disease of the central nervous system, appeared to be most genetically similar to irritable bowel syndrome and most environmentally similar to cystitis and urethritis, all of which are inflammatory diseases."

I don't know why the data about migraines is such a surprise. They should have asked me. I used to suffer lots of migraines, as does my brother to a lesser extent. We inherited it from my mother. The first symptom for me is visual, when I get a corona in one eye. At that point I have no pain...that comes later, along with nausea. I learned that if I took three ibuprofin at that stage, it seemed to short circuit the migraine. I figured it had to have something to do not with pain but with the anti-inflammatory qualities of ibuprofin.

Take a look at this too:


It explains so much when presented in this way:

09-08-17, 09:37
On my dad's side: horrible cancer or longevity. Choose one. I think every physical should include some form of cancer screening. I've had one too many family members succumb to this horrible disease and I don't wish to join them.

09-08-17, 11:02
Very interesting study, but sadly behind a paywall.

I didn't suspect that there could be a genetic link between migraine and irritable bowel syndrome. Do they mean by that that both are caused by the same genetic variants? Are they linked to the same HLA type maybe? It seems that ibuprofen, which suppress immune reaction, works both against IBS and migraine.

There is now overwhelming evidence that IBS and both celiac and non-celiac gluten sensitivity are linked to HLA-DQ2 and HLA-DQ8 (Vazquez-Roque 2012 (https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3089653/), Hwang 2015 (https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4384671/), Cecilio 2015 (https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4737358/) and Makharia 2015 (https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4690093/), among other studies). Overall 98 to 99% of people with gluten intolerance are positive for HLA-DQ2 and/or DQ8. This autoimmune reaction to gluten has even been confirmed in mice. However HLA-DQ2/8+ only account for 40% of people with irritable bowel syndrome (Barmeyer 2007 (http://www.drschaer-institute.com/smartedit/documents/_Agent/Sch%C3%83%C2%A4r%20presentation.pdf)), as not all IBS is caused by gluten.

Doing a quick search, I found that migraine were linked to HLA-DR1*16 (Rainero 2005 (https://www.ncbi.nlm.nih.gov/pubmed/16362659)). Other studies showed no associations with HLA-A or HLA-B. I couldn't find any study on HLA-DQ though.

Dimitrova 2013 (https://www.ncbi.nlm.nih.gov/pubmed/23126519) reported a prevalence of migraine in patients with celiac disease and inflammatory bowel disease. So there do seem to be a connection between the autoimmune bowel inflammation and migraine, but there are so many immune factors that it might take a long time to identify all those that are implicated.

I have personally suffered from IBS with gluten sensitivity for most of my adult life and I happen to be HLA-DQ8. I got that DQ8 from my father, who has suffered from recurrent migraines for years (but no digestive symptoms). In Europe, HLA-DQ8 (https://en.wikipedia.org/wiki/HLA-DQ8) is most common in Nordic countries and England, which also happen to be the places where gluten intolerance are the most common (and incidentally the only countries where one can reliably find gluten-free menus in restaurants and lots of gluten-free products in supermarkets).

Johane Derite
09-08-17, 11:38
Very interesting study, but it's really a shame it's behind a paywall. When is the whole scientific community finally going to understand that science is about knowledge and not about money?

It will be understood when it is clear to all that there is no stopping the universality of knowledge. Until then we have SciHub to open paywalled papers for us:


09-08-17, 11:52
It will be understood when it is clear to all that there is no stopping the universality of knowledge. Until then we have SciHub to open paywalled papers for us:


Here is what they say:

On the basis of the ICD-9 taxonomy, genetic and environmental correlations for migraine are surprising. As migraine is clearly associated with the central nervous system, one would expect that its etiology is most similar to those of other neuropsychiatric conditions. For example, “mental disorders” (codes 290–319 in the ICD-9 taxonomy) have a sister group of “diseases of central nervous system and sensory organs”(codes 320–389), containing both migraine and eye inflammation. However, in our analysis of its genetic and environmental correlations, migraine is not similar to other nervous system diseases. Rather, it is much closer to immune system diseases, such as irritable bowel syndrome (IBS) in the genetic correlation space and to cystitis/urethritis in the environmental correlation space (Supplementary Fig. 5).

09-08-17, 15:20

Here is what they say:Right on. There are no mental diseases on my mother side, where I got my migraine from, but bunch of autoimmune ones.

09-08-17, 15:59
Right on. There are no mental diseases on my mother side, where I got my migraine from, but bunch of autoimmune ones.

Same...migraines, allergies, IBS (primarily stimulated by dairy, not gluten), rheumatoid arthritis, even one case of Lupus.

Mentally...hyperfocused if anything, the opposite of ADHD, no bi-polar disorder or acting out of any kind.

In a way it's rather disquieting how much of who we are is largely down to genes. It should teach some humility and more compassion for other people.

12-08-17, 10:43
15 - 20 years ago I suddenly felt very bad and had to go to emergency hospital.
I was examined very toroughly and had to come back later for further inquiry.
Finally I was diagnosed a very bad migraine and they told me it would come back regularly.
It didn't, and I still don't know what happened.
It seems like a one-time event.

12-08-17, 10:47
I think in 10 - 20 years a full DNA test will cost 50 $, and they'll know the DNA of everyone along with a lot more knowledge about heritable diseases than there is today.