Contrasting genetic association of <it>IL2RA </it>with SLE and ANCA - associated vasculitis

• मुख्य लेखकों: Todd John A (लेखक), Lowe Christopher E (लेखक), Clatworthy Menna R (लेखक), Carr Edward J (लेखक), Wong Andrew (लेखक), Vyse Timothy J (लेखक), Kamesh Lavanya (लेखक), Watts Richard A (लेखक), Lyons Paul A (लेखक), Smith Kenneth GC (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: BMC, 2009-03-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: Connect to this object online.

सारांश

<p>Abstract</p> <p>Background</p> <p>Autoimmune diseases are complex and have genetic and environmental susceptibility factors. The objective was to test the genetic association of systemic lupus erythematosus (SLE) and anti-neutrophil cytoplasmic antibody (ANCA) - associated systemic vasculitis (AAV) with SNPs in the <it>IL2RA </it>region and to correlate genotype with serum levels of IL-2RA.</p> <p>Methods</p> <p>Using a cohort of over 700 AAV patients, two SLE case-control studies and an SLE trio collection (totalling over 1000 SLE patients), and a TaqMan genotyping approach, we tested 3 SNPs in the IL2RA locus, rs11594656, rs2104286 & rs41295061, each with a prior association with autoimmune disease; rs11594656 and rs41295061 with type 1 diabetes (T1D) and rs2104286 with multiple sclerosis (MS) and T1D.</p> <p>Results</p> <p>We show that SLE is associated with rs11594656 (<it>P </it>= 3.87 × 10^-7) and there is some evidence of association of rs41295061 with AAV (<it>P </it>= 0.0122), which both have prior association with T1D. rs2104286, an MS and T1D - associated SNP in the <it>IL2RA </it>locus, is not associated with either SLE or AAV.</p> <p>Conclusion</p> <p>We have confirmed a previous suggestion that the <it>IL2RA </it>locus is associated with SLE and showed some evidence of association with AAV. Soluble IL-2RA concentrations correlate with rs11594656 genotype in quiescent disease in both AAV and SLE. Differential association of autoimmune diseases and SNPs within the <it>IL2RA </it>locus suggests that the <it>IL2RA </it>pathway may prove to play differing, as yet undefined, roles in each disease.</p>

वस्तु वर्णन

10.1186/1471-2350-10-22
1471-2350