Genetics of autoimmune and collagen diseases
Kochi, Y.; Yamamoto, K.
Nihon Rinsho. Japanese Journal of Clinical Medicine 67(6): 1103-1107
2009
ISSN/ISBN: 0047-1852 PMID: 19507500 Document Number: 637704
Most of autoimmune and collagen diseases such as rheumatoid arthritis and systemic lupus erythematosus are multifactorial diseases, where both genetic and environmental factors are involved in their pathogenesis. Recent progress in the genetic study of disease has enabled us to perform genome-wide scanning of disease susceptibility genes and brought us a new picture of disease mechanism. We herein review the recent findings of genetic studies on autoimmune and collagen diseases. Some of disease-susceptibility genes like PTPN22 and CTLA4 are shared in common among different diseases, while other genes contribute to a specific disease, suggesting combination of genetic predispositions may determine an individual's pathophysiology.