ArticlePediatric rheumatology online journal2016
Association of juvenile idiopathic arthritis with PTPN22 rs2476601 is specific to females in a Greek population.
Article in Pediatric rheumatology online journal, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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10 citing papers in PubMed, 17 citations in OpenAlex.
- Nonlinearity and sex differences in the performance of a polygenic risk score for juvenile idiopathic arthritis.Frontiers in immunology · 2025Article
- Genetic factors involved in the co‑occurrence of endometriosis with ankylosing spondylitis (Review).Molecular medicine reports · 2023Review
- Genetic association between theExperimental and therapeutic medicine · 2022Article
- Association of the single nucleotide polymorphism C1858T of theInternational journal of reproductive biomedicine · 2021Article
- Three-dimensional assessment of facial morphology in children and adolescents with juvenile idiopathic arthritis and moderate to severe TMJ involvement using 3D surface scans.Clinical oral investigations · 2020Article
- Sex Differences in Pediatric Rheumatology.Clinical reviews in allergy & immunology · 2019Review
- Τhe genetics of juvenile idiopathic arthritis: Searching for new susceptibility loci.Molecular medicine reports · 2017Article
- The role of gene polymorphisms in endometriosis.Molecular medicine reports · 2017Article
- TLR4 rs41426344 increases susceptibility of rheumatoid arthritis (RA) and juvenile idiopathic arthritis (JIA) in a central south Chinese Han population.Pediatric rheumatology online journal · 2017Article
- Genetic determinants of serum 25-hydroxyvitamin D concentration during pregnancy and type 1 diabetes in the child.PloS one · 2017Article
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Authors and funding
8 authors at 5 institutions in 2 countries.
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No grant is acknowledged in the PubMed record.
Abstract
backgroundJuvenile idiopathic arthritis (JIA) is an autoimmune disease characterized by persistent chronic arthritis. Disease risk is believed to be influenced by both genetic and environmental factors. It is well established that the PTPN22 single nucleotide polymorphism (SNP) rs2476601 is associated with JIA susceptibility. It was recently reported in an Australian study that this association is restricted to females and is not observed in males. A significant source of inconsistency amongst the literature on autoimmune disease susceptibility genes stems from an inability to replicate genetic findings across different racial or ethnic groups. We therefore attempted to generate further evidence of the female-specific association of rs2476601 in a homogeneous Greek population.
findingsWe genotyped rs2476601 in 128 Caucasian JIA patients (70.3 % female) and 221 healthy controls (28.1 % female) from Northern Greece. Overall, PTPN22 was associated with increased risk of JIA in this Greek sample (OR = 2.3, 95 % CI 1.1 - 5.1, p = 0.038). Sex-stratified analyses showed that, once again, the risk association was restricted to females (Female: OR = 19.9, 95 % CI 1.2 - 342, p = 0.0016; Male: OR = 1.1, 95 % CI 0.3 - 3.1, p = 0.94) supporting the prior findings.
conclusionsOur data demonstrates that this sex-specific pattern of association is broadly applicable to different populations, and provides further impetus to undertake mechanistic studies to understand the impact of sex on PTPN22 in JIA.
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