Histocompatibility Antigens and Susceptibility to Disease—Genetic Considerations
Since the discoveries in 1972 by Russell et al. (1972) and Falchuk and Strober (1972) that psoriasis and coeliac disease are strongly associated with certain HLA antigens, it has become clear that the HLA system is involved in the etiology or pathogenesis, or both, of a variety of diseases. These relationships between HLA and disease are of considerable clinical and theoretical importance because they provide new ways for the study of etiology, genetics, and nosology of HLA-related diseases, and in a few cases they may have diagnostic and prognostic implications. One of the most fascinating aspects of this research involves attempts to establish the mechanisms by which HLA confers susceptibility or resistance to disease. Such mechanisms have been dealt with in detail abundantly elsewhere (Dausset and Svejgaard, 1977; McDevitt and Bodmer, 1972; Svejgaard et al., 1977). However, at this time, there have been very few definite explanations established for the HLA-disease associations. Accordingly, in this survey, we shall focus solely on a somewhat more neglected field: the contribution of HLA studies to our knowledge of the genetics of diseases. First, we shall give a general concept of genetic disorders and discuss how studies of genetic markers may help determine the mode of inheritance of disease susceptibility and resistance. Next, we shall summarize the present knowledge about HLA and disease associations and finally describe examples that illustrate how this knowledge may guide our interpretation of disease-inheritance patterns.
KeywordsMultiple Sclerosis Optic Neuritis Congenital Adrenal Hyperplasia Coeliac Disease Histocompatibility Antigen
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