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Type 1 Diabetes and Multiple Sclerosis Share General Autoimmunity Genetic Variation
Maristella Steri1, Alessandro Testori2, Valeria Orrù1
1Institute of Genetic and Biomedical Research (IRGB), Italian National Research Council (CNR), 09042 Monserrato, Italy.
Genes
|May 27, 2026
Summary
Type 1 diabetes (T1D) and multiple sclerosis (MS) share genetic links, with this study identifying 26 shared signals. Most signals indicate general autoimmune susceptibility, highlighting shared genetic factors in these distinct diseases.
Area of Science:
- Immunology
- Genetics
- Epidemiology
Background:
- Type 1 diabetes (T1D) and multiple sclerosis (MS) are autoimmune diseases with shared genetic and environmental risk factors.
- Understanding their co-occurrence requires dissecting their common genetic architecture.
Purpose of the Study:
- To identify shared genetic loci between T1D and MS using large-scale genome-wide association studies (GWASs) and colocalization analyses.
- To discover novel genetic associations for T1D and MS through shared signal prioritization.
Main Methods:
- Bayesian colocalization framework applied to large GWAS datasets for T1D (18,942 cases, 501,638 controls) and MS (14,802 cases, 26,703 controls).
- Identification and validation of shared genetic association signals.
Main Results:
- Identified 26 shared colocalizing association signals between T1D and MS.
- Discovered 7 novel loci for T1D and 2 novel loci for MS.
- Found that 17 out of 26 signals represent shared general autoimmune susceptibility, while 9 showed disease-specific effects.
Conclusions:
- Colocalization is a powerful tool for discovering shared genetic architecture in related disorders.
- Prioritizing shared causal variants enhances the detection of novel disease loci.
- T1D and MS share predominantly general autoimmune susceptibility signals, but also exhibit immunological heterogeneity.
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