Receptor polymorphisms and diseases

The aim of our review is to summarize common genetic variations of some rec eptors associated with clinical consequences, which were not outlined in th e previous special issue of this journal. Because of the multiple pathomech anisms of diseases, a set of genetic variation can play a role in the devel opment of pathological conditions. From the data available three articles w ould merit a greater interest. In systemic lupus erythematosus the associat ions related to some polymorphisms of Fc-, tumor necrosis factor (TNF) alph a- and interferon receptor may explore new autoimmunological and inflammato rical pathomechanisms. In the endocrinology, the androgen receptor repeat p olymorphism will exert significant aspects in the development of prostate c ancer. The pleoitropic responsibility of Vitamin D3 receptor polymorphism i n the pathogenesis of immunological disorders (primary biliary cirrhosis, i nflammatory bowel disease, type 1 diabetes mellitus) and of malignancies (m alignant melanoma, breast cancer) shed light on the importance of common nu clear receptors. Nevertheless, in the future studies a more consistent appr oach minimizing requirement bias in the selection of patients will approve our understanding the role of genetic influence on the pathogenesis of dise ases. (C) 2001 Elsevier Science B.V. All rights reserved.