Research programme: Genetics

The aetiology of CRPS-1 is unknown, but there are indications that genetic factors are involved in this disease. The aim of this research line is to evaluate the extent to which genetic factors are involved in the initiation and progression of CRPS-1 and to study the nature of this involvement.

Knowledge of the responsible genes may enhance our understanding of the disease pathway, indicate directions for future research, and may ultimately help to identify potentially effective pharmatherapeutic interventions or yield targets for drug development.

Ongoing research
At present various studies are being done with the genetic material that has been collected for this research programme.

One of these focuses on the prevalence of CRPS in families. DNA of people suffering from CRPS is being compared to DNA of their non-CRPS relatives. Two pilot studies at the department of Neurology of the Leiden University Medical Center provided evidence of familial clustering of CRPS-1 beyond what might have been expected based on current knowledge of prevalence rates. Although this finding may be partly explained by shared environmental factors, genetic influences are probably involved.

Other studies focus on more specific genes and chromosomes. There is evidence that certain genes on the sixth chromosome play a role in CRPS, which indicates that the discourse has an autoimmune component.

In anther study within this research programme a large number of cytokines are being analysed. The outcome of this study might support earlier findings of research of blister fluids done at the Erasmus MC.

Co-ordination
This programme is co-ordinated by dr. Arn van den Maagdenberg and dr. Han Marinus (LUMC). They are being supported by postgraduate Florencia Grosso.