Combined genetic analysis of juvenile idiopathic arthritis clinical subtypes identifies novel risk loci, target genes and key regulatory mechanisms

Annals of the Rheumatic Disease

Fecha de publicación: 11 de febrero de 2021

DOI: http://dx.doi.org/10.1136/annrheumdis-2020-218481

Autores: Elena López-Isac, Samantha L Smith, Miranda C Marion, Abigail Wood, Marc Sudman, Annie Yarwood, Chenfu Shi, Vasanthi Priyadarshini Gaddi, Paul Martin, Sampath Prahalad, Stephen Eyre, Gisela Orozco, Andrew P Morris, Carl D Langefeld, Susan D Thompson, Wendy Thomson, John Bowes

Background: Juvenile idiopathic arthritis (JIA) is the most prevalent form of juvenile rheumatic disease. Our understanding of the genetic risk factors for this disease is limited due to low disease prevalence and extensive clinical heterogeneity. The objective of this research is to identify novel JIA susceptibility variants and link these variants to target genes, which is essential to facilitate the translation of genetic discoveries to clinical benefit.