Subtype specific genetic associations for juvenile idiopathic arthritis: ERAP1 with the enthesitis related arthritis subtype and IL23R with juvenile psoriatic arthritis
Open Access
- 1 January 2011
- journal article
- research article
- Published by Springer Nature in Arthritis Research & Therapy
- Vol. 13 (1), R12
- https://doi.org/10.1186/ar3235
Abstract
Juvenile idiopathic arthritis (JIA) is an umbrella term for all chronic childhood arthropathies and can be divided into seven subtypes. It includes the enthesitis related arthritis (ERA) subtype which displays symptoms similar to ankylosing spondylitis (AS) and juvenile-onset psoriatic arthritis which has similarities to psoriatic arthritis (PsA) and psoriasis (Ps). We, therefore, hypothesized that two well-established susceptibility loci for AS and Ps, ERAP1 and IL23R, could also confer susceptibility to these JIA subtypes. Single nucleotide polymorphisms (SNPs) in ERAP1 (rs30187) and IL23R (rs11209026) were genotyped in JIA cases (n = 1,054) and healthy controls (n = 5,200). Genotype frequencies were compared between all JIA cases and controls using the Cochrane-Armitage trend test implemented in PLINK. Stratified analysis by ILAR subtype was performed. The ERA subtype showed strong association with ERAP1 SNP (P trend = 0.005). The IL23R SNP showed significant association in the PsA subtype (P trend = 0.04). The SNPs were not associated with JIA overall or with any other subtype. We present evidence for subtype specific association of the ERAP1 gene with ERA JIA and the IL23R gene with juvenile-onset PsA. The findings will require validation in independent JIA datasets. These results suggest distinct pathogenic pathways in these subtypes.Keywords
This publication has 15 references indexed in Scilit:
- A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1Nature Genetics, 2010
- Investigating the genetic association between ERAP1 and ankylosing spondylitisHuman Molecular Genetics, 2009
- Overlap of disease susceptibility loci for rheumatoid arthritis and juvenile idiopathic arthritisAnnals Of The Rheumatic Diseases, 2009
- Analysis of 17 autoimmune disease-associated variants in type 1 diabetes identifies 6q23/TNFAIP3 as a susceptibility locusGenes & Immunity, 2008
- Investigation of association of the IL12B and IL23R genes with psoriatic arthritisArthritis & Rheumatism, 2008
- Autoimmune diseases: insights from genome-wide association studiesHuman Molecular Genetics, 2008
- Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variantsNature Genetics, 2007
- PLINK: A Tool Set for Whole-Genome Association and Population-Based Linkage AnalysesAmerican Journal of Human Genetics, 2007
- A Large-Scale Genetic Association Study Confirms IL12B and Leads to the Identification of IL23R as Psoriasis-Risk GenesAmerican Journal of Human Genetics, 2007
- International League of Associations for Rheumatology classification of juvenile idiopathic arthritis: second revision, Edmonton, 2001.2004