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JIA affected sibling pairs present high correlation for ANA and ILAR category

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Pediatric Rheumatology20119 (Suppl 1) :P193

https://doi.org/10.1186/1546-0096-9-S1-P193

  • Published:

Keywords

  • Genetic Background
  • Juvenile Idiopathic Arthritis
  • Clinical Phenotype
  • Degree Relative
  • Antinuclear Antibody

Aims

1)To investigate the clinical phenotypes and demographic characteristics of affected sibling pairs (ASPs) with juvenile idiopathic arthritis (JIA)

2)To provide an international resource of JIA DNA samples and a base of knowledge from which all genes contributing to the pathogenesis of JIA can be identified.

Methods

This is a cross-sectional multicentric study in which all paediatric rheumatology centres belonging to the PRINTO network were asked to participate. PRINTO asked to provide demographic and clinical characteristics of the ASPs through electronic format and to collect DNA samples of JIA familiar cases, including all first degree relatives, deriving from the different centres.

Results

Table 1. Demographic, clinical features and concordance between the sibs (2 or more within the same family) of the 106 individual affected sibpairs with JIA

Table 1

 

N (%)

Mean (SD)

Median

Min

Max

Conc.

Male

Female

25 (24)

81 (76)

    

0.24

0.79

Onset age –years

 

6.6 (4.4)

6.2

0.5

16.3

 

JIA category

Systemic arthritis

Oligoarthritis persistent

Oligoarthritis extended

Polyarthritis RF negative

Polyarthritis RF positive

Psoriatic arthritis

Enthesitis related arthritis

Other

0 (0)

61 (57.6)

18 (17)

21 (19.8)

2 (1.9)

3 (2.8)

0 (0)

1 (0.9)

    

0.79

0.85

0.5

0.9

1

0.67

0

Presence of ANA

Absence of ANA

56 (56)

44 (44)

    

0.78

0.68

Presence of iritis

Absence of iritis

11 (10)

86 (81)

    

0.36

0.9

Conclusion

Preliminary results confirm the findings of earlier studies showing familial aggregation of clinical features among ASPs. In our study we observed high concordance of the presence of antinuclear antibodies (ANA), providing evidence for a genetic background in this disease. The DNA samples collected will allow to develop future studies on JIA.

Authors’ Affiliations

(1)
IRCCS G. Gaslini, Pediatria II, PRINTO, Italy

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