Genetics and genomic studies in scleroderma (systemic sclerosis).
It currently is believed that scleroderma is a complex polygenic disease that occurs in genetically predisposed individuals who have encountered specific environment exposures and/or other stochastic factors. The nature of these genetic determinants and how they interact with environmental factors are areas of active investigation. This article discusses the evidence that supports a strong genetic link to scleroderma. These studies implicate potential pathogenetic mechanisms involved in scleroderma, which, it is hoped, may translate into clinical utility, including determination of disease risk, diagnosis, prognosis, and novel therapeutics.
Agarwal
Sandeep K
SK
Division of Rheumatology, Department of Internal Medicine, The University of Texas Health Science Center at Houston, 6431 Fannin, MSB 5.270, Houston, TX 77030, USA.
Tan
Filemon K
FK
Arnett
Frank C
FC
D001323:Autoantibodies / Q000235:genetics*; D016207:Cytokines / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006650:Histocompatibility Testing; D006801:Humans; D020411:Oligonucleotide Array Sequence Analysis; D012595:Scleroderma, Systemic / Q000235:genetics*
D001323:Autoantibodies; D016207:Cytokines