Rosa B. Thorolfsdottir, scientist at deCODE Genetics in Iceland and first author of the paper. Credit: deCODE genetics
Sequence variants that protect against pericarditis have been discovered at a genomic locus encoding the interleukin-1 immune cytokines. A recently approved drug treatment for pericarditis inhibits these cytokines, according to a new study.
The paper, titled “Variants at the interleukin-1 gene locus and pericarditis,” was published today (December 27) in JAMA Cardiology by scientists from deCODE Genetics, a subsidiary of Amgen, and their collaborators from Denmark, the United States and Iceland.
The study involves a genome-wide search for variants affecting the risk of pericarditis, a disease characterized by often painful inflammation of the fibrous sac surrounding the heart. A subset of patients suffer from recurrent pericarditis that does not respond well to traditional treatment with nonspecific anti-inflammatory medications.
The role of specific immune processes in pericarditis is poorly understood and the aim of the study was to use human genetics to shed light on the pathogenesis of the disease.
Scientists have discovered common genome variants that protect against pericarditis. They are located in a region containing genes encoding the inflammatory cytokines interleukin-1. Drugs inhibiting these cytokines have already been used to treat other inflammatory diseases and have recently been tested in clinical studies in recurrent pericarditis with good results. One of these drugs was approved by the United States Food and Drug Administration for use in the treatment of recurrent pericarditis as recently as 2021.
The results of the genetic study provide important information. They suggest that interleukin-1 may be an important contributor to pericarditis in general, as the variants identified are common (up to approximately 50% frequency). Additionally, the results provide the basis for future studies, such as those aimed at understanding which interleukin-1 cytokines are most important and whether treatment response is affected by genotype.
More information:
Variants at the interleukin-1 gene locus and pericarditis, JAMA Cardiology (2023). DOI: 10.1001/jamacardio.2023.4820
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