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Association of juvenile idiopathic arthritis with PTPN22 rs2476601 is specific to females in a Greek population.

ABSTRACT: Juvenile 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.We 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.Our 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.

SUBMITTER: Goulielmos GN

PROVIDER: S-EPMC4842296 | biostudies-literature | 2016 Apr

REPOSITORIES: biostudies-literature

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Association of juvenile idiopathic arthritis with PTPN22 rs2476601 is specific to females in a Greek population.

Goulielmos G N GN Chiaroni-Clarke R C RC Dimopoulou D G DG Zervou M I MI Trachana M M Pratsidou-Gertsi P P Garyfallos A A Ellis J A JA

Pediatric rheumatology online journal 20160423 1

<h4>Background</h4>Juvenile 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 ...[more]

PMID: 27107590

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Project description:BackgroundAs the treatment arsenal for children with juvenile idiopathic arthritis (JIA) has expanded during the last decades, follow-up studies are needed on children diagnosed in the era of biological treatment to evaluate if this has improved the outcome. Our aim was to study the epidemiology and outcome of JIA in southern Sweden using a population-based cohort of children with a validated diagnosis of JIA collected over 9 years.MethodsPotential cases of JIA between 2002 and 2010 were collected after a database search, using the ICD codes M08-M09. The study area was Skåne, the southernmost county of Sweden (population 1.24 million; 17.6% aged <?16?years). The JIA diagnosis was validated and subcategorized through medical record review based on the criteria defined by the International League of Associations for Rheumatism (ILAR). Parameters on disease activity and pharmacologic treatment were recorded annually until the end of the study period (December 31, 2015).ResultsIn total, 251 cases of JIA were confirmed. The mean annual incidence rate for JIA was estimated to be 12.8/100,000 children <?16?years, with the highest age-specific annual incidence at the age of 2 years (36/100,000). Oligoarthritis was the largest subgroup (44.7%), and systemic JIA was the smallest subgroup (2.8%). Methotrexate was the most common disease-modifying anti-rheumatic drug prescribed (60.6%). Tumor necrosis factor alpha inhibitors were used as treatment for 23.9% of the children. Only 40.0% of the follow-up years, with a median follow-up time of 8 years, were free of arthritis or uveitis. Uveitis occurred in 10.8% of the children (8.0% chronic uveitis), and the need for joint corrective orthopedic surgery was 9.2%.ConclusionsThe incidence of JIA in this well-defined, population-based cohort is slightly lower than in previously published studies from Scandinavia. The need for orthopedic surgery and the presence of uveitis are diminished compared to studies with patients diagnosed more than 20?years ago. Children with JIA however still experience disease activity more than 50% of the time. In conclusion, we still have long-term challenges in the care for children with JIA, in spite of state-of-the-art treatment.

Dataset Information

Association of juvenile idiopathic arthritis with PTPN22 rs2476601 is specific to females in a Greek population.

Publications

Association of juvenile idiopathic arthritis with PTPN22 rs2476601 is specific to females in a Greek population.

Similar Datasets

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