Nav: Home

Putting autoimmune disease genetic links to the test

March 15, 2017

Studies of autoimmune and inflammatory diseases have identified hundreds of genetic regions thought to be associated with these conditions. At the same time, studies of expression quantitative trait loci (eQTLs) have revealed the abundance of inherited variations in gene expression levels in the normal human population. While it is widely believed that the majority of disease-associated loci influence disease risk through regulatory variations in gene expression, this hypothesis has not been formally tested by verifying whether most of genetic loci influencing disease risk are also detectable as eQTLs. In an effort to examine this hypothesis, investigators at BWH and their colleagues took approximately 270 genetic loci associated with seven diseases and tried to map them back to causal genes using eQTLs in key immune cells. They report their results in Nature Genetics.

The team was able to resolve 55 of these associations to candidate genes with strong statistical consistency with variations of baseline gene expression in unstimulated immune cells. However, this is only a small fraction - about 25 percent - of the genetic loci examined. For the rest, the researchers did not observe any signal in the eQTL data that were consistent with autoimmune disease associations despite the fact that disease-relevant cell populations are easier to access from blood samples compared to other disease.

"Abundant caution must be exercised before pathological relevance is inferred for an observed eQTL simply on the basis of proximity to a disease association," the authors write. "Strong-evidence of a shared genetic effect should therefore be established before time-consuming and costly experimental dissection of such effects is undertaken."
-end-
This work was supported by NIH awards R01-MH101244-04, R01-GM105857-03, R01-GM078598-09 and U01-HG009088-01.

Paper cited: Chun S et al. "Limited statistical evidence for shared genetic effects of eQTLs and autoimmune-disease-associated loci in three major immune-cell types." Nature Genetics DOI: 10.1038/ng.3795

Brigham and Women's Hospital

Related Autoimmune Articles:

New compounds could be used to treat autoimmune disorders
In autoimmune disorders, the body's defense system erroneously attacks normal cells, leading to serious health problems.
How stressed-out bacteria may trigger autoimmune response
Stressful life events most likely contribute to autoimmune diseases, but scientists don't have a deep understanding of the underlying chain of events.
Autoimmune diseases are related to each other, some more than others
Researchers using the world's largest twin registry to study seven autoimmune diseases found the risk of developing the seven diseases is largely inherited, but that some diseases are more closely related than others.
New proof that narcolepsy is an autoimmune disease
Researchers from the University of Copenhagen have discovered autoreactive cells in persons suffering from narcolepsy.
Novel treatments offer new hope for patients with autoimmune disease
Researchers at University of Utah Health have developed a new approach that targets the misfunctioning immune cells while leaving normal immune cells in place.
More Autoimmune News and Autoimmune Current Events

Best Science Podcasts 2019

We have hand picked the best science podcasts for 2019. Sit back and enjoy new science podcasts updated daily from your favorite science news services and scientists.
Now Playing: TED Radio Hour

Erasing The Stigma
Many of us either cope with mental illness or know someone who does. But we still have a hard time talking about it. This hour, TED speakers explore ways to push past — and even erase — the stigma. Guests include musician and comedian Jordan Raskopoulos, neuroscientist and psychiatrist Thomas Insel, psychiatrist Dixon Chibanda, anxiety and depression researcher Olivia Remes, and entrepreneur Sangu Delle.
Now Playing: Science for the People

#537 Science Journalism, Hold the Hype
Everyone's seen a piece of science getting over-exaggerated in the media. Most people would be quick to blame journalists and big media for getting in wrong. In many cases, you'd be right. But there's other sources of hype in science journalism. and one of them can be found in the humble, and little-known press release. We're talking with Chris Chambers about doing science about science journalism, and where the hype creeps in. Related links: The association between exaggeration in health related science news and academic press releases: retrospective observational study Claims of causality in health news: a randomised trial This...