A polymorphism in the gene that expresses connective-tissue growth factor is involved in the risk for scleroderma.
Systemic sclerosis (SS), or scleroderma, is an autoimmune disorder characterized by immune activation, vascular damage, and widespread fibrosis of the skin and internal organs. Molecular studies show greatly elevated connective-tissue growth factor (CTGF) expression in both skin biopsy specimens and cultivated fibroblasts. A genome-wide screen of Choctaw Indians, in whom SS incidence is high, pointed to a possible predisposition locus on chromosome 6q23-27, to which CTGF maps. With these data in mind, investigators tested the hypothesis that promoter polymorphisms in CTGF dictate gene expression and, hence, the risk for SS.
They divided 500 white patients with SS (426 women) and 500 matched healthy, unrelated controls into two groups: an ini…
Reviewing Author
DisclosuresConsultant / advisory board Lubax; WorldCare Clinical
EquityLubax
Grant / Research support NIH; Department of Defense; American Skin Association; Piramal
Editorial boardsBritish Journal of Dermatology; Journal of the American Academy of Dermatology; Journal of Investigative Dermatology
Leadership positions in professional societies American Academy of Dermatology (Chair, Skin Cancer and Melanoma Committee); American Board of Dermatology (Director)
DisclosuresConsultant / advisory board Lubax; WorldCare Clinical
EquityLubax
Grant / Research support NIH; Department of Defense; American Skin Association; Piramal
Editorial boardsBritish Journal of Dermatology; Journal of the American Academy of Dermatology; Journal of Investigative Dermatology
Leadership positions in professional societies American Academy of Dermatology (Chair, Skin Cancer and Melanoma Committee); American Board of Dermatology (Director)