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Translating Genetic Discoveries into Rheumatic Therapies

Susan Bernstein  |  Issue: March 2018  |  March 18, 2018

There is tremendous heterogeneity in the antigens seen in SLE patients in these studies, he said.

“So this breach of tolerance is profound and highly diverse among different individuals. If you look at a large number of antigens, you can see a high amount of variability. We can take a data set like this and begin to make predictions about disease,” he said. Genomics analysis can help distinguish healthy individuals who are ANA positive from those with SLE by pulling out autoantibodies that are highly predictive of lupus. “This indicates that we are on the verge of having an assay that may be of some value for the diagnosis of SLE. Typically, if you are looking at potential SLE patients referred to your office based on the fact that they’re ANA positive, the key step is to distinguish those individuals who have a predisposition to develop lupus as opposed to those who are healthy, but ANA positive.”

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This sort of benign autoimmunity is detected throughout the population in both ANA-positive and ANA-negative individuals, said Dr. Wakeland. However, this idea of benign autoimmunity is being questioned, as even ANA-positive phenotypes may correlate with higher risk of disease, according to large research cohorts, such as the Dallas Heart Study, he said. Persistent autoimmunity in an individual who seems healthy could later have clinical outcomes. In the future, more precise endophenotyping may be able to reveal important disease alleles in lupus and other autoimmune diseases, he said.


Susan Bernstein is a freelance journalist based in Atlanta.

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References

  1. Scannell JW, Blanckley A, Boldon H, et al. Diagnosing the decline in pharmaceutical R&D efficiency. Nat Rev Drug Disc. 2012 Mar;11:191–200.
  2. Okada Y, Wu D, Trynka G, et al. Genetics of rheumatoid arthritis contributes to biology and drug discovery. Nature. 2014 Feb 20;506(7488):376–381.
  3. Cohen JC, Boerwinkle E, Mosley TH Jr., et al. Sequence variations in PCSK9, low LDL, and protection against coronary artery disease. New Engl J Med. 2006 Mar;354:1264–1272.
  4. Raychaudhuri S, Iartchouk O, Chin K, et al. A rare penetrant mutation in CFH confers high risk of age-related macular degeneration. Nat Genet. 2011 Oct 23;43(12):1232–1236.
  5. Langefeld CD, Ainsworth HC, Cunninghame Graham DS, et al. Transancestral mapping and genetic load in systemic lupus erythematosus. Nat Commun. 2017 Jul 17;8:16021.
  6. Raj P, Rai E, Song R, et al. Regulatory polymorphisms modulate the expression of HLA Class II molecules and promote autoimmunity. eLife. 2016;5:e12089.

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Filed under:ConditionsMeeting Reports Tagged with:ACR/ARHP Annual MeetingGenetic research

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