Genetic factors in the etiology of systemic sclerosis and Raynaud phenomenon.
There is increasing evidence that genetic factors play important roles in susceptibility to and expression of systemic sclerosis (SSc), as well as primary Raynaud phenomenon. Familial aggregation for SSc, although infrequent (1.2%-1.5% of SSc families), has now been established, and when compared with population prevalence represents a significant risk factor for the disease and lays a firmer foundation for genetics in etiopathogenesis. Major histocompatibility complex class II alleles increase disease risk in some populations but are more strongly correlated with specific autoantibody profiles. Microchimerism influenced by human leukocyte antigen also remains an intriguing hypothesis. A variety of extracellular matrix genes, including fibrillin-1, have become additional candidates for contributing to what is likely a complex genetic disease. Reviewed here is evidence relating to these concepts, especially new data reported over the last year.
Tan
F K
FK
Division of Rheumatology and Clinical Immunogenetics, University of Texas, Houston Medical School, 77030, USA. Filemon.K.Tan@uth.tmc.edu
Arnett
F C
FC
D020022:Genetic Predisposition to Disease; D006801:Humans; D011928:Raynaud Disease / Q000235:genetics*; D012595:Scleroderma, Systemic / Q000235:genetics*