HLA-B62 and HLA-DQ8 are associated with Complex Regional Pain Syndrome with fixed dystonia

de Rooij, Annetje M.; Florencia Gosso, M.; Haasnoot, Geert W.; Marinus, Johan; Verduijn, Willem; Claas, Frans H.J.; van den Maagdenberg, Arn M.J.M.; van Hilten, Jacobus J.

doi:10.1016/j.pain.2009.05.015

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Volume 145, Issue 1 , Pages 82-85, September 2009

HLA-B62 and HLA-DQ8 are associated with Complex Regional Pain Syndrome with fixed dystonia

Annetje M. de Rooij
- Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands
- Both authors contributed equally.
M. Florencia Gosso
- Department of Human Genetics, Leiden University Medical Center, PO Box 9600, 2300 RC Leiden, The Netherlands
- Both authors contributed equally.
Geert W. Haasnoot
- Department of Immunohaematology and Blood Transfusion, Leiden University Medical Center, Leiden, The Netherlands
Johan Marinus
- Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands
Willem Verduijn
- Department of Immunohaematology and Blood Transfusion, Leiden University Medical Center, Leiden, The Netherlands
Frans H.J. Claas
- Department of Immunohaematology and Blood Transfusion, Leiden University Medical Center, Leiden, The Netherlands
Arn M.J.M. van den Maagdenberg
- Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands
- Department of Human Genetics, Leiden University Medical Center, PO Box 9600, 2300 RC Leiden, The Netherlands
- Corresponding author. Address: Leiden University Medical Center, Department of Human Genetics, PO Box 9600, 2300 RC Leiden, The Netherlands. Tel.: +31 71 526 9460; fax: +31 71 526 8285.
Jacobus J. van Hilten
- Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands

Received 20 February 2009; received in revised form 21 April 2009; accepted 18 May 2009. published online 12 June 2009.

Abstract

Complex Regional Pain Syndrome (CRPS) is clinically characterized by pain in combination with sensory, autonomic, and motor symptoms that may include weakness, tremor, myoclonus and dystonia of the affected limb(s). The syndrome is multifactorial in origin and mostly attributed to tissue injury. There is some evidence that the human leukocyte antigen (HLA) system plays a role in the pathophysiology of CRPS, but previous studies lacked power. Here we performed the most extensive study investigating the contribution of HLA alleles (i.e. HLA-A, HLA-B, HLA-DRB1, and HLA-DQB1) in 150 CRPS patients who also had fixed dystonia. HLA-B62 (OR=2.05 [95% CI 1.41–2.99], P=0.0005) and HLA-DQ8 (OR=1.75 [95% CI 1.20–2.57], P=0.005) were found significantly associated with CRPS and dystonia. The association remained significant after correction (HLA-B62 P_corrected [P_c] = 0.02 and HLA-DQ8 P_c=0.04). The involvement of HLA-B62 and HLA-DQ8 in CRPS with dystonia may indicate that these HLA loci are implicated in the susceptibility or expression of the disease.