2012-08-01
Genetic HLA associations in complex regional pain syndrome with and without dystonia
Publication
Publication
The Journal of Pain , Volume 13 - Issue 8 p. 784- 789
We previously showed evidence for a genetic association of the human leukocyte antigen (HLA) system and complex regional pain syndrome (CRPS) with dystonia. Involvement of the HLA system suggests that CRPS has a genetic component with perturbed regulation of inflammation and neuroplasticity as possible disease mechanisms. However, it is at present unclear whether the observed association with HLA-B62 and HLA-DQ8 in CRPS patients with dystonia also holds true for patients without dystonia. Therefore, we tested the possible association with HLA-B62 and HLA-DQ8 in a clinically homogeneous group of 131 CRPS patients without dystonia. In addition, we investigated the possible association with other alleles of the HLA-A, HLA-B, HLA-C, HLA-DR, and HLA-DQ loci. We showed an increased prevalence of HLA-DQ8 (molecularly typed as HLA-DQB1*03:02; OR = 1.65 [95% CI 1.12-2.42], P =.014) in CRPS without dystonia, whereas no association was observed for HLA-B62 (molecularly typed as HLA-B*15:01; OR = 1.22 [95% CI.78-1.92], P =.458). Our data suggest that CRPS with and CRPS without dystonia may be genetically different, but overlapping, disease entities because only HLA-DQ8 is associated with both. The findings also indicate that distinct biological pathways may play a role in both CRPS subtypes. Perspective: This study is the first to replicate a specific HLA region conferring genetic risk for the development of CRPS. Moreover, associations of HLA-DQ8 with both CRPS with and CRPS without dystonia, and HLA-B62 only with CRPS with dystonia, suggest that these disease entities may be genetically different, but overlapping.
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doi.org/10.1016/j.jpain.2012.05.003, hdl.handle.net/1765/60589 | |
The Journal of Pain | |
Organisation | Department of Anesthesiology |
van Rooijen, D., Roelen, D. L., Verduijn, W., Haasnoot, G., Huygen, F., Perez, R., … Dichgans, M. (2012). Genetic HLA associations in complex regional pain syndrome with and without dystonia. The Journal of Pain, 13(8), 784–789. doi:10.1016/j.jpain.2012.05.003 |