Shared Genetic Effects in Autoimmune Disease
Author Information
Author(s): Cotsapas Chris, Voight Benjamin F., Rossin Elizabeth, Lage Kasper, Neale Benjamin M., Wallace Chris, Abecasis Gonçalo R., Barrett Jeffrey C., Behrens Timothy, Cho Judy, De Jager Philip L., Elder James T., Graham Robert R., Gregersen Peter, Klareskog Lars, Siminovitch Katherine A., van Heel David A., Wijmenga Cisca, Worthington Jane, Todd John A., Hafler David A., Rich Stephen S., Daly Mark J.
Primary Institution: Center For Human Genetic Research, Massachusetts General Hospital
Hypothesis
Do genetic risk factors for autoimmune diseases overlap across different diseases?
Conclusion
The study found that nearly half of the genetic variants associated with autoimmune diseases are shared across multiple diseases.
Supporting Evidence
- The study evaluated 107 immune disease-risk SNPs across seven diseases.
- It was found that 47 out of 107 SNPs are associated with multiple diseases.
- Distinct groups of interacting proteins were identified near SNPs associated with the same diseases.
- The results suggest that genetic variation may influence entire pathways affecting multiple diseases.
Takeaway
Scientists looked at genes that might cause autoimmune diseases and found that many of them are shared between different diseases, like a family resemblance.
Methodology
The study used a novel statistic for Cross Phenotype Meta-Analysis (CPMA) to evaluate genetic associations across multiple autoimmune diseases.
Limitations
The study did not consider SNPs in the human Major Histocompatibility Complex (MHC) due to their well-established role in these diseases.
Participant Demographics
The study included data from various autoimmune diseases, with a total of over 26,000 disease cases.
Statistical Information
P-Value
p=3×10−64
Statistical Significance
p<0.01
Digital Object Identifier (DOI)
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