
DOI . ORG {
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Title[redir]:
Update on the genetic architecture of rheumatoid arthritis | Nature Reviews Rheumatology
Description:
Genetic association studies have uncovered more than 100 genetic loci related to susceptibility to rheumatoid arthritis. This Review discusses the latest insights into rheumatoid arthritis pathogenesis gained from genetic studies and their application for drug discovery and development. Human genetic studies into rheumatoid arthritis (RA) have uncovered more than 100 genetic loci associated with susceptibility to RA and have refined the RA-association model for HLA variants. The majority of RA-risk variants are highly shared across multiple ancestral populations and are located in noncoding elements that might have allele-specific regulatory effects in relevant tissues. Emerging multi-omics data, high-density genotype data and bioinformatic approaches are enabling researchers to use RA-risk variants to identify functionally relevant cell types and biological pathways that are involved in impaired immune processes and disease phenotypes. This Review summarizes reported RA-risk loci and the latest insights from human genetic studies into RA pathogenesis, including how genetic data has helped to identify currently available drugs that could be repurposed for patients with RA and the role of genetics in guiding the development of new drugs.
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pubmed, google, scholar, arthritis, cas, rheumatoid, central, genet, nature, genetic, risk, loci, data, variants, association, rheumatol, nat, plos, genes, article, susceptibility, gene, human, rheum, hum, genetics, effects, content, cell, access, autoimmune, analysis, hla, immune, shared, study, hladrb, kim, population, studies, alleles, noncoding, locus, genomewide, diseases, functional, cookies, information, lee, multiple,
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nature portfolio permissions reprints privacy policy anti-citrullinated protein antibody-positive trans-ethnic fine-mapping studies advertising anti-ccp-negative rheumatoid arthritis emerging multi-omics data author information authors social media multi-ethnic cohort derived cell-type-specific characteristics genome-wide association data sang-cheol bae chronic nf-ฮบb activation genome-wide association study leveraging functional-annotation data allele-specific regulatory effects nature 506 nature 518 nature 507 nature 520 nature 401 nature 466 nature caseโcontrol study genome-wide association studies high-density genotype data mirna-target gene networks b-cell-targeted therapy association-heterogeneity mapping identifies nk-cell enhancer regions acpa-negative rheumatoid arthritis author correspondence acpa-positive rheumatoid arthritis fc-gamma receptor genes complex long-range interactions genome-wide data high-throughput drug screen springerlink instant access global-omics data super-enhancers delineate disease integrative pathway-based approach permissions fine mapping seronegative hla risk alleles amino acid positions bayesian inference analyses epigenetic fine mapping human cell types
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Genetic association studies have uncovered more than 100 genetic loci related to susceptibility to rheumatoid arthritis. This Review discusses the latest insights into rheumatoid arthritis pathogenesis gained from genetic studies and their application for drug discovery and development. Human genetic studies into rheumatoid arthritis (RA) have uncovered more than 100 genetic loci associated with susceptibility to RA and have refined the RA-association model for HLA variants. The majority of RA-risk variants are highly shared across multiple ancestral populations and are located in noncoding elements that might have allele-specific regulatory effects in relevant tissues. Emerging multi-omics data, high-density genotype data and bioinformatic approaches are enabling researchers to use RA-risk variants to identify functionally relevant cell types and biological pathways that are involved in impaired immune processes and disease phenotypes. This Review summarizes reported RA-risk loci and the latest insights from human genetic studies into RA pathogenesis, including how genetic data has helped to identify currently available drugs that could be repurposed for patients with RA and the role of genetics in guiding the development of new drugs.
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