Journal
SCIENCE TRANSLATIONAL MEDICINE
Volume 8, Issue 363, Pages -Publisher
AMER ASSOC ADVANCEMENT SCIENCE
DOI: 10.1126/scitranslmed.aag1974
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Categories
Funding
- U.K. MRC
- Alan and Babette Sainsbury Charitable Fund
- Naomi Bramson Trust
- Clinical Neuroimmunology Fund
- Oxford BRC
- Oak Foundation
- Rosetrees Trust
- Wellcome Trust [100308/Z/12/Z, 106130/Z/14/Z, 100956/Z/13/Z]
- Christopher Welch Scholarship
- Danish MRC
- MRC [MC_UU_12010/3] Funding Source: UKRI
- Wellcome Trust [100308/Z/12/Z] Funding Source: Wellcome Trust
- Medical Research Council [MC_qA137853, MC_UU_12010/3] Funding Source: researchfish
- Rosetrees Trust [M85-F1] Funding Source: researchfish
- Wellcome Trust [100308/Z/12/Z] Funding Source: researchfish
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Thousands of genetic variants have been identified, which contribute to the development of complex diseases, but determining how to elucidate their biological consequences for translation into clinical benefit is challenging. Conflicting evidence regarding the functional impact of genetic variants in the tyrosine kinase 2 (TYK2) gene, which is differentially associated with common autoimmune diseases, currently obscures the potential of TYK2 as a therapeutic target. We aimed to resolve this conflict by performing genetic meta-analysis across disorders; subsequent molecular, cellular, in vivo, and structural functional follow-up; and epidemiological studies. Our data revealed a protective homozygous effect that defined a signaling optimum between auto-immunity and immunodeficiency and identified TYK2 as a potential drug target for certain common autoimmune disorders.
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