[Genetics of autoimmune and collagen diseases].
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.
Kochi
Yuta
Y
Laboratory for Autoimmune Diseases, Center for Genomic Medicine, RIKEN.
Yamamoto
Kazuhiko
K
D001327:Autoimmune Diseases / Q000235:genetics*; D003095:Collagen Diseases / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics; D055106:Genome-Wide Association Study; D006801:Humans