June 2017
Volume 58, Issue 8
Open Access
ARVO Annual Meeting Abstract  |   June 2017
The genetic architecture of Behçet’s disease provides new insights into therapy
Author Affiliations & Notes
  • Dan Kastner
    National Human Genome Research Institute, NIH, Bethesda, Maryland, United States
  • Footnotes
    Commercial Relationships   Dan Kastner, None
  • Footnotes
    Support  This work was supported by the Intramural Research Program of the National Human Genome Research Institute.
Investigative Ophthalmology & Visual Science June 2017, Vol.58, 4767. doi:
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      Dan Kastner; The genetic architecture of Behçet’s disease provides new insights into therapy
      . Invest. Ophthalmol. Vis. Sci. 2017;58(8):4767.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Presentation Description : This presentation will provide a state-of-the-art overview on the genetics of Behçet’s disease (BD) and a discussion of how recent findings inform targeted therapies. This will begin with a summary of the role of HLA in BD susceptibility, including the seven relevant MHC Class I alleles, and the localization of the BD association to six residues in the peptide-binding groove of the Class I molecule. Genome-wide association studies (GWAS) have identified common polymorphisms in a number of immunologically relevant genes that confer susceptibility to BD, including variants in IL10, IL23R, ERAP1, CCR1, STAT4, and KLRC4. Epistasis between HLA-B*51 and ERAP1 implicates antigen presentation and other shared pathogenic pathways between BD and the spondyloarthropathies. Deep resequencing has further identified rare and low-frequency variants of IL23R and TLR4, as well as a familial Mediterranean fever-associated mutation in MEFV, that confer BD risk. Finally, whole-exome sequencing has led to the discovery of a new monogenic Behçet’s-like disease (‘HA20’) caused by haploinsufficiency in the ubiquitin-regulatory A20 protein, encoded by TNFAIP3. These findings shed new light on the role of therapies targeting IL-1 and TNF in the treatment of BD, and suggest the possibility of novel biologic therapies targeting other cytokine pathways in BD.

This is an abstract that was submitted for the 2017 ARVO Annual Meeting, held in Baltimore, MD, May 7-11, 2017.

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