HLA Class II Haplotype and Autoantibody Associations in Children PDF Print E-mail
Monday, 10 May 2010 20:37
L. R. Wedderburn; N. J. McHugh; H. Chinoy; R. G. Cooper; F. Salway; W. E. R. Ollier; L. J. McCann; H. Varsani; J. Dunphy; J.
North; J. E. Davidson
Posted: 12/19/2007; Rheumatology. 2007;46(12):1786-1791. © 2007 Oxford University Press

Objectives: To investigate a large cohort of children with juvenile dermatomyositis (JDM), and those with JDM-scleroderma (JDM-SSc) overlap, using detailed serological analysis, HLA class II genotyping and clinical characterization.

Methods: Children (114) with JDM were recruited, and clinical data collected, through the JDM National Registry and Repository (UK and Ireland). Sera were assayed for ANA using standard immunofluorescence techniques and specific antibodies characterized using ELISA, immunodiffusion and radioimmunoprecipitation. Patients and controls (n = 537) were genotyped at the HLA-DRB1 and DQB1 loci, and then the DQA1 locus data was derived.

Results: Over 70% of the patients were ANA-positive. Clear differences in serological and genetic data were demonstrated between JDM and JDM-SSc overlap groups. Strong associations were seen for HLA-DRB1*03 (all cases vs controls, P corr = 0.02; JDM-SSc vs controls, P corr = 0.001) and HLA-DQA1*05 (all cases vs controls, P corr = 0.01; JDM-SSc vs controls, P corr = 0.005). The frequency of the HLA-DRB1*03-DQA1*05-DQB1*02 haplotype was significantly increased in the JDM-SSc (P = 0.003) and anti-PM-Scl antibody (P = 0.002) positive groups. All anti-U1-RNP antibody-positive patients had at least one copy of HLA-DRB1*04-DQA1*03-DQB1*03 haplotype. Associations were observed between serology and specific clinical features.

Conclusions: We present clinical data, HLA genotyping and serological profiling on a large cohort of JDM patients and a carefully characterized subset of patients with JDM-SSc overlap. The results confirm known HLA associations and extend the knowledge by stratification of data in serological and clinical subgroups. In the future, a combination of serological and genetic typing may allow for better prediction of clinical course and disease subtype in JDM.

Login to download your own copy of the full and original article from the link provided below.

 
More articles :

» Is Pulmonary Arterial Hypertension Really a Late Complication of Systemic Sclerosis?

Eric Hachulla, MD, PhD; David Launay, MD, PhD; Luc Mouthon, MD, PhD; Olivier Sitbon, MD, PhD; Alice Berezne, MD; Loïc Guillevin, MD; Pierre-Yves Hatron, MD; Ge´rald Simonneau, MD; Pierre Clerson, MD; and Marc Humbert, MD, PhD;Pulmonary arterial...

» 5 Cold And Flu Prevention Tips

With some 20,000 cases of flu having been reported in New York state and many more throughout the rest of the United States, many have declared this year's cold and flu season to be of epidemic proportions. According to the , the 2012-13 flu season...

» UT Researchers At Forefront Of Efforts To Stem The Tide Of Autoimmune Diseases

Autoimmune and autoinflammatory diseases are on the rise and researchers and physicians at are at the forefront of efforts to stem the tide. These diseases are often hard to diagnose and often affect individuals differently.Autoimmune and...

» Scleroderma and Massage Therapy

In a recent patient group meeting, we had the immense pleasure and honour of sitting with Rinalda, a local massage therapist, to discuss the importance of massage therapy and how it can help with our Scleroderma.Rinalda noted that from the beginning...

» Pain Common in Systemic Sclerosis

Pain is common and can be severe in patients with systemic sclerosis, a cross-sectional analysis found.Among patients enrolled in the multicenter Canadian Scleroderma Research Group Registry, 83% experienced pain, more than one-third of them...

» What are the Early Symptoms of Scleroderma?

Scleroderma is a term used to describe a group of rare, chronic diseases characterized by unusual tightening and hardening of the connective tissues and skin. There are two major types of : localized, which only affects the skin; and systemic, which...