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Family collections for the analysis of common autoimmune disease genes in systemic rheumatic and inflammatory diseases

At present, little is known about the influence of genetic factors on the appearance and development of human autoimmune diseases, including rheumatic and inflammatory diseases. Our aims are i)to provide the scientific community with the material required to study the genetics of these diseases, individually and in their relation to each other and ii)to contribute to these investigations. We therefore collected caucasian families with i)one index patient suffering from rheumatoid arthritis (RA), systemic scleroderma (SSc), relapsing polychondritis (rPC), Wegener's granulomatosis (WG) or Systemic Lupus Erythematosus (SLE), ii)at least one first degree relative suffering from the same or another rheumatic or autoimmune disease, iii)healthy first degree relatives. Blood samples from all family members were used to prepare and store plasma (or serum), DNA, and Epstein-Barr-Virus (EBV) transformed Bcell lines. Clinical, immunological and genetic information of interest was documented in a database. Families of healthy people were collected for comparison. Up to now we have collected more than 100 families, mainly in Southwest Germany. According to the patient index there are now 59 with RA, 12 with SSc, 3 with rPC, 4 with WG and 24 with SLE. In addition we collected information and material from more than 200 patients with healthy relatives or unavailable families. In parallel we started to compare patients with "familiar" or "non-familiar" diseases and have already observed interesting differences. In patients with RA these differences concern sex distribution, the presence of rheumatoid factors and the age at disease onset. At present typing of HLA-DRB1 alleles is being performed.


Funded by the Federal Ministry of Education and Research (Kompetenznetz Rheuma) and the German Scleroderma Foundation.

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Melchers, I., Buchegger-Podbielski, U., Feldmeyer, A. et al. Family collections for the analysis of common autoimmune disease genes in systemic rheumatic and inflammatory diseases. Arthritis Res Ther 4 (Suppl 1), 21 (2002).

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