The genetics of scleroderma (systemic sclerosis).
OBJECTIVE
To determine the advances made in the genetics of scleroderma in candidate gene association studies.


RESULTS
Over the past 18 months, a number of candidate gene studies using large case-control series in scleroderma have been reported. The studies have identified multiple genes involved in immune regulation including BANK1, C8orf13-BLK, IL-23R, IRF5, STAT4, TBX21, and TNFSF4 as susceptibility genes for the development of SSc. Furthermore, gene-gene interaction studies suggest that IRF5, STAT4, and BANK1 as well as TBX21 and STAT4 interact with regard to scleroderma susceptibility. Many of the genetic variants associated with SSc susceptibility are shared among other autoimmune diseases such as rheumatoid arthritis and systemic lupus erythematosus.


CONCLUSIONS
Candidate gene association studies have substantially advanced our understanding of the pathogenesis of SSc and demonstrate that SSc is a polygenic, autoimmune disease.
Agarwal
Sandeep K
SK
Division of Rheumatology and Clinical Immunogenetics, Department of Internal Medicine, The University of Texas Health Science Center at Houston, Houston, Texas 77030, USA. Sandeep.K.Agarwal@uth.tmc.edu
Reveille
John D
JD
D004843:Epistasis, Genetic / Q000235:genetics; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006680:HLA Antigens / Q000235:genetics; D006801:Humans; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D012595:Scleroderma, Systemic / Q000235:genetics*
D006680:HLA Antigens