Abstract
Rapid advances in genotyping technology, analytical methods, and the establishment of large cohorts for population genetic studies have resulted in a large new body of information about the genetic basis of human rheumatoid arthritis (RA). Improved understanding of the root pathogenesis of the disease holds the promise of improved diagnostic and prognostic tools based upon this information. In this review, we summarize the nature of new genetic findings in human RA, including susceptibility loci and gene-gene and gene-environment interactions, as well as genetic loci associated with sub-groups of patients and those associated with response to therapy. Possible uses of these data are discussed, such as prediction of disease risk as well as personalized therapy and prediction of therapeutic response and risk of adverse events. While these applications are largely not refined to the point of clinical utility in RA, it seems likely that multi-parameter datasets including genetic, clinical, and biomarker data will be employed in the future care of RA patients.
| Original language | English |
|---|---|
| Pages (from-to) | 90-101 |
| Number of pages | 12 |
| Journal | Gene |
| Volume | 583 |
| Issue number | 2 |
| DOIs | |
| Publication status | Published - Jun 1 2016 |
Funding
The authors wish to acknowledge the support of the European Union Seventh Framework Program IMI-funded project BeTheCure , contract no. 115142-2 . Although it was tried to refer as much as possible to the original research papers, it is impossible to cite all of the more than 1000 papers on RA genetics, RA Pharmacogenomics and new technologies used in these topics, listed in Pubmed today, considering space limitation. The authors therefore apologize to all researchers whose original articles were not directly cited.
Keywords
- Gene polymorphisms
- Genotyping technologies
- Personalized medicine
- Rheumatoid arthritis
ASJC Scopus subject areas
- Genetics
