1546-0096-6-S1-P14 1546-0096 Poster presentation <p>Association between IL2RA and juvenile idiopathic arthritis (JIA) disease severity at first presentation to paediatric rheumatology: results from the Childhood Arthritis Prospective Study (CAPS)</p> Hyrich KL Lal SD Hinks A Wedderburn LR Gardner-Medwin J Foster H Chieng A Davidson J Baildam E Thomson W

University of Manchester, Manchester, UK

Institute of Child Health, London, UK

Royal Hospital for Sick Children, Glasgow, UK

Royal Liverpool Children's Hospital, Liverpool, UK

University of Newcastle, Newcastle, UK

Royal Manchester Children's Hospital, Manchester, UK

 Pediatric Rheumatology <p>15<sup>th </sup>Paediatric Rheumatology European Society (PreS) Congress</p> Wietse Kuis, Patricia Woo, Angelo Ravelli, Hermann Girschick, Michaël Hofer, Johannes Roth, Rotraud K Saurenmann, Alberto Martini, Pavla Dolezova, Janjaap van der Net, Pierre Quartier, Lucy Wedderburn and Jan Scott Meeting abstracts – A single PDF containing all abstracts in this Supplement is available here. <p>15<sup>th </sup>Paediatric Rheumatology European Society (PreS) Congress</p> London, UK 14–17 September 2008 http://www.pres.org.uk 1546-0096 2008 6 Suppl 1 P14 http://www.ped-rheum.com/content/6/S1/P14 10.1186/1546-0096-6-S1-P14 15 9 2008 2008 Hyrich et al; licensee BioMed Central Ltd.

Background

CAPS was designed to study clinical and genetic predictors of JIA outcome. The gene IL2RA has recently emerged as a JIA susceptibility locus. This study investigates the association between SNPs located within the IL2RA region and disease severity at first presentation to rheumatology.

Methods

Demographic and disease features were collected at first presentation to rheumatology. SNPs(rs2104286, rs41295061, rs11594656) were genotyped on a Sequenom MassARRAY® platform. Logistic regression, adjusted for ILAR subtype, was used to determine the association between genotype and moderate to severe disability(defined as CHAQ score ≥ 0.75).

Results

185 children with JIA (median age 7.2 years(IQR 3.6, 11.7), 65% female) were included. Median CHAQ score at presentation was 0.75(IQR 0.13, 1.38). There was a trend towards higher disability with increased number of copies of the rare allele of rs2104286 (Table 1) (OR 8.00 (0.93, 68.79), p = 0.06). An association was also seen between increased disability and homozygosity for the rare allele of rs11594656 (OR 3.37 (0.89–12.75), p = 0.07). There was no association with rs41295061.

<p>Table 1</p>

Gene IL2RA

N(%)

Median CHAQ score(IQR)*

OR CHAQ ≥ 0.75(95% CI), p-value

Unadjusted

Adjusted

rs2104286

185

11

119(64)

0.75(0.13, 1.38)

Ref

Ref

12

58(31)

0.81(0.25, 1.38)

1.06(0.56, 1.99), p = 0.86

1.05(0.54, 2.03), p = 0.88

22

8(4)

0.94(0.81, 1.38)

6.02(0.72, 50.42), p = 0.09

8.00(0.93, 68.79), p = 0.06

rs11594656

185

11

100(54)

0.88(0.13, 1.44)

Ref

Ref

12

68(37)

0.63(0.13, 1.07)

0.63(0.34, 1.18), p = 0.15

0.64(0.33, 1.21), p = 0.17

22

17(9)

1.38(0.88, 1.88)

3.52(0.95, 13.02), p = 0.06

3.37(0.89, 12.75), p = 0.07

Conclusion

Children homozygous for the rare allele (rs2104286) a SNP associated with JIA susceptibility, showed a trend towards increased disability. Interestingly, a second SNP in the IL2RA region not previously associated with JIA susceptibility also showed a similar trend. Validation of these results in larger cohorts is required.