Prof. Dr. med. Jürgen Gräßler
Genetic studies in rheumatic diseases
Previous and current research
Recent breakthroughs in genetic methodology have greatly augmented our understanding of the contribution of genetics to susceptibility to the rheumatic diseases. Disorders in which familial aggregation has been best documented include rheumatoid arthritis (RA) and gout.
The association of RA with genes of the major histocompatibility complex (MHC) has been apparent for many years. However, it has become clear that MHC genes contribute only part of the genetic risk. As one of new non-MHC candidates for increased RA susceptibility we identified chondromodulin-II (ChM-II). ChM-II is a cartilage-derived protein, which is involved in cartilage and bone repair processes. We were able to demonstrate that the ChM-II Val58Ile polymorphism was associated with radiographic progression of joint destruction in German RA patients.
Primary hyperuricemia caused by reduced renal urate excretion is usually implicated in the development of familial gout. Although the molecular nature of several urate transporting proteins has been identified during the last few years, no association with urate underexcretion could be established. Analysing the human urattransporter-1 (hURAT1) gene for polymorphisms we, for the first time, were able to show an association of genetic variations in a urate transporting system with reduced fractional uric acid excretion in a group of German patients.
Based on these findings we will characterize the underlying mechanisms for reduced renal urate excretion.
- Graessler J, Graessler A, Unger S, Kopprasch S, Tausche A-K, Kuhlisch E, Schroeder H-E (2005): Association of the human urate transporter 1 (hURAT1) with reduced renal uric acid excretion and hyperuricemia in a German Caucasian population. Arthritis Rheum. 2006 Jan;54(1):292-300.
- Graessler J, Verlohren M, Graessler A, Zeissig A, Kuhlisch E, Kopprasch S, Schroeder H-E (2005): Association of chondromodulin-II Val58Ile polymorphism with radiographic joint destruction in rheumatoid arthritis. J Rheumatol. 2005 Sep;32(9):1654-61.
1983: MD at Medical Academy of Dresden
1989: Fellow at the Institute of Endocrinology, Slovak Academy of Sciences, Bratislava
1990: PhD at Medical Academy of Dresden
1990-1993: Senior Physician at the Institute of Pathological Biochemistry, Technical University of Dresden
1993: Head of the Department of Pathological Biochemistry, Medical Clinic III, Technical University of Dresden