Genetics of Juvenile Idiopathic Arthritis

Juvenile idiopathic arthritis (JIA) affects approximately 1 in 1000 US children. The cause of JIA is most likely multifactorial and due to an interplay of genetics and environmental factors. This article summarizes the known genetic risk factors for JIA that have been identified, and in some cases replicated, using a variety of methods, including genomewide association and candidate gene association studies. A brief discussion regarding pharmacogenomics and studies to data linking genetics to treatment response and outcomes is included.

Key points

  • Juvenile idiopathic arthritis (JIA) is a complex heterogeneous phenotype with different clinical features, and genetic associations.

  • Several variants underlying susceptibility to oligoarticular and rheumatoid factor (RF)-negative polyarticular JIA have been identified through genomewide association studies, including HLA, PTPN22, and STAT4 loci.

  • Genomewide association studies of systemic onset JIA have identified that HLA DRB1:11 is strongly associated with it.

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Sep 28, 2017 | Posted by in RHEUMATOLOGY | Comments Off on Genetics of Juvenile Idiopathic Arthritis

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