Think you can’t donate your tissue since you have rheumatoid arthritis? Think again. Researchers want your tissue and blood samples in order to conduct a variety of research projects.
The Robert S. Boas Center for Genomics & Human Genetics, as part of the Feinstein Institute for Medical Research in New York, is examining patterns in the human genome to find specific genetic risks for diseases such as rheumatoid arthritis or lupus to Alzheimer’s disease and schizophrenia.
Established in 1997 by a group of rheumatologists and researchers from across the country, the North American Rheumatoid Arthritis Consortium (NARAC) has identified several major risk genes for RA. NARAC is led by Feinstein Institute researcher, Peter K. Gregersen, MD, who identified the two polymorphisms associated with RA and lupus - PTPN22 and STAT4 - years ago.
Although there is still much to know about genetic risk factors rheumatoid arthritis and other diseases, companies such as deCODEme will take your submitted DNA sample and test your chromosomes for risk genes known to be related to 47 diseases and health conditions...for a fee, of course, $1100. 23andMe will analyze your DNA sample for as low as $207.
According to deCODEme, genetic variants which are known to increase the risk of developing RA include: “a variant in or near the HLA-DRB1 gene on chromosome 6p, the PTPN22 gene on chromosome 1, the STAT4 gene on chromosome 2, the IL23 gene on chromosome 4, the TRAF1-C5 gene on chromosome 9, the OLIG3-TNFAIP3 gene region on chromosome 6q and in the PADI4 gene on chromosome 1. Of these the HLA-DRB gene contributes by far the strongest effect to the risk of developing Rheumatoid arthritis. The PADI4 gene contributes to the risk of RA in East Asians but not people of European descent.”
Pércio S. Gulko, MD, is examining genes that effect the susceptibility of RA and severity of its symptoms with the anticipation of developing “more effective therapies, as well as new tools for diagnosis and prognostication.” His team of researchers are able to do this work through a variety of “strategies involving genetic analysis, functional studies of inflammatory cells, and gene expression studies of the joint cells (synovial fibroblasts).”
Here is where the average RA patient can participate. If you are scheduled to undergo orthopedic surgery, you can choose to contribute to the Tissue Donation Program - Synovial Tissue Collection study led by Dr. Gulko. The purpose of the study is two-fold: 1) to collect synovial tissue and blood to study the genetic and environmental factors involved in the development and severity of arthritis, and 2) to save or “bank” unused portions of the synovial tissue and blood for future studies. Currently, the Feinstein Institute is conducting at least seven clinical studies related to rheumatoid arthritis.
Synovial tissue often obtained during orthopedic surgery or through a needle biopsy has been a source of research material for decades. Often tissue samples are taken from the knee joint, but which method provides better samples? Researchers found that most microscopic features of inflammation were similar regardless of collection method. (Bresnihan et al. Synovial biopsy in arthritis research: five years of concerted European collaboration (pdf). Ann Rheum Dis 2000;59:506-510.)