Publications by authors named "T Radstake"
Objective: Idiopathic inflammatory myopathies (myositis, IIMs) are rare, systemic autoimmune disorders that lead to muscle inflammation, weakness, and extra-muscular manifestations, with a strong genetic component influencing disease development and progression. Previous genome-wide association studies identified loci associated with IIMs. In this study, we imputed data from two prior genome-wide myositis studies and analyzed the largest myositis dataset to date to identify novel risk loci and susceptibility genes associated with IIMs and its clinical subtypes.
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- - Gout is a chronic condition caused by the immune system's reaction to monosodium urate crystals due to high uric acid levels, and recent research sheds light on its inflammatory mechanisms.
- - A large genome-wide association study (GWAS) involving 2.6 million people identified 377 genetic locations linked to gout, with a focus on 149 new loci related to urate and gout inflammation.
- - The study also pinpointed candidate genes influencing the inflammatory response in gout, including those affecting NLRP3 inflammasome activity, and suggests a potential causal role of specific genetic factors in developing the disease.
Article Synopsis
- Genome-wide association studies (GWASs) are effective in linking genetic variants to various human traits and diseases, but they often require large sample sizes, making it tough to study rarer diseases like myositis, which severely affect patients' quality of life.
- The researchers used a feature engineering method to leverage data from larger IMD GWASs, discovering 17 immune-mediated diseases genetically related to myositis, including conditions like systemic sclerosis and Sjögren's syndrome.
- They identified seven potential new genetic links to myositis, hinting that immune system genes may play a role in the disease, and suggest this method could enhance genetic research in other rare conditions as well.