Resolving TYK2 locus genotype-to-phenotype differences in autoimmunity
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Resolving TYK2 locus genotype-to-phenotype differences reveals an immune signaling optimum that may be exploited therapeutically for treating autoimmune diseases.
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GWAS findings have increasing translational impact through identification of novel therapeutic targets, prioritization and deprioritization of existing targets, and development of polygenic scores that quantify individual genetic risk.
“As described below, findings from GWAS have increasing translational impact through identification of novel therapeutic targets67, prioritization (and deprioritization) of existing ones68 and development of polygenic scores that quantify individual genetic risk69.”
From A brief history of human disease genetics (2020) · cites this paper as [67]
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- Authors
- Dendrou, C. A., Cortes, A., Shipman, L., Evans, H. G., Attfield, K. E., Jostins, L., Barber, T., Kaur, G., Kuttikkatte, S. B., Leach, O. A., Desel, C., Faergeman, S. L., Cheeseman, J., Neville, M. J., Sawcer, S., Compston, A., Johnson, A. R., Everett, C., Bell, J. I., Karpe, F., Ultsch, M., Eigenbrot, C., McVean, G., & Fugger, L.
- Affiliations
- John Radcliffe Hospital (GB)
- Oxford Centre for Neuroinflammation, Nuffield Department of Clinical Neurosciences, Division of Clinical Neurology, John Radcliffe Hospital, University of Oxford, Oxford OX3 9DS, UK.
- Centre for Human Genetics (GB)
- University of Oxford (GB)
- Churchill Hospital (GB)
- University of Cambridge (GB)
- Genentech (US)
- Aarhus University Hospital (DK)
- Corresponding author
- Fugger, Lars
- ORCID
- Venue
- Science Translational Medicine
- Published
- 2016-11-02
- Volume
- 8
- Issue
- 363
- Pages
- 363ra149-363ra149
- ISSN
- 1946-6234 (ISSN-L)
- 1946-6242
- PMC
- PMC5737835
- OpenAlex
- W2547876355
- Cited by
- 264
- References
- 51
- Citations by year
- 2026: 29 · 2025: 27 · 2024: 28 · 2023: 32 · 2022: 40 · 2021: 29 · 2020: 33 · 2019: 22 · 2018: 12 · 2017: 10 · 2016: 2
- FWCI
- 12.37
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Science Translational Medicine (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- 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)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Health Sciences › Medicine › Rheumatology › Rheumatoid Arthritis Research and Therapies
- Life Sciences › Immunology and Microbiology › Immunology › Psoriasis: Treatment and Pathogenesis
- Keywords
- TYK2, genotype-phenotype correlation, autoimmune disease, immunodeficiency, genetic variants, therapeutic target
- MeSH terms
- Animals, Autoimmune Diseases, Female, Genotype, Homozygote, Humans, Immune System, Leukocytes, Mononuclear, Male, Phenotype, Protein Conformation, Recombination, Genetic, Genetic Variation, Signal Transduction, CD4-Positive T-Lymphocytes, Autoimmunity, Cytokines, Sequence Analysis, RNA, Mutation, Missense, Polymorphism, Single Nucleotide, Genomics, Quantitative Trait Loci, Epigenesis, Genetic, Mice, Janus Kinase 2, TYK2 Kinase, Genetic Association Studies, HEK293 Cells, Transcriptome
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