Abstract
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.
This is a preview of subscription content, log in via an institution to check access.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Preview
Unable to display preview. Download preview PDF.
References
Bertrams, J., Kuweit, E., and Liedtke, U., 1972, HL-A antigens and multiple sclerosis, Tissue Antigens 2:405.
Cavalli-Sforza, L.L., and Bodmer, W.F., 1971, The Genetics of Human Populations, W.H. Freeman, San Francisco.
Compston, D.A.S., Batchelor, J.R., Earl, C.J., and McDonald, W.I., 1978, Factors influencing the risk of multiple sclerosis developing in patients with optic neuritis, Brain 101:495.
Dausset, J., and Svejgaard, A., 1977, HLA and Disease, Munksgaard, Copenhagen.
Day, N.E., and Simons, M.J., 1976, Disease susceptibility genes—their identification by multiple case family studies, Tissue Antigens 8:109.
Dupont, B., Oberfield, S.E., Smithwick, E.M., Lee, T.D., and Levine, L.S., 1977, Close genetic linkage between HLA and congenital adrenal hyperplasia (21-hydroxylase deficiency), Lancet 2:1309.
Edwards, J.H., 1955, The meaning of the associations between blood groups and disease, Ann. Hum. Genet. 29:77.
Eiston, R.C., and Rao, D.C., 1978, Statistical modeling and analysis in human genetics, Annu. Rev. Biophys. Bioeng. 7:253.
Emery, A.E.H., and Lawrence, J.S., 1977, Genetics of ankylosing spondylitis, J. Med. Genet. 4:239.
Falchuk, Z.M., and Strober, W., 1972, HL-A antigens and adult coeliac disease, Lancet 2:1310.
Falconer, D.S., 1965, The inheritance of liability to certain diseases, estimated from the incidence among relatives, Ann. Hum. Genet. 29:51.
Haldane, J.B.S., 1956, The estimation and significance of the logarithm of a ratio of frequencies, Ann. Hum. Genet. 20:309.
Hill, A.P., 1975, Quantitative linkage: A statistical procedure for its detection and estimation, Ann. Hum. Genet. 38:439.
James, J.W., 1971, Frequency in relatives for an all-or-none trait, Ann. Hum. Genet. 35:47.
Jersild, C., Svejgaard, A., and Fog, T., 1972, HL-A antigens and multiple sclerosis, Lancet 1:1240.
Jersild, C., Rubinstein, P., and Day, N.K., 1977, Complement and the major histocompatibility systems, in: Biological Amplification Systems in Immunology (S.B. Day and R.A. Good, eds.), pp. 247–275, Springer Science+Business Media New York and London.
Kidd, K.K., Bernoco, D., Carbonara, A.O., Daneo, V., Steiger, U., and Ceppellini, R., 1977, Genetic analysis of HLA-associated diseases: The “illness-susceptible” gene frequency and sex ratio in ankylosing spondylitis, in: HLA and Disease (J. Dausset and A. Svejgaard, eds.), pp. 72–80, Munksgaard, Copenhagen.
Kravitz, K., Skolnick, M., Cannings, C., Carmelli, D., Baty, B., Amos, B., Johnson, A., Mendell, N., Edwards, C., and Cartwright, G., 1979, Genetic linkage between hereditary hemochromatosis and HLA, Am. J. Hum. Genet. 31:601.
Lachman, P.J., and Hobart, M.J., 1978, Complement genetics in relation to HLA, Br. Med. Bull. 34:247.
Lange, K., Spence, M.A., and Frank, M.B., 1976, Application of the lod method to the detection of linkage between a quantitative trait and a qualitative marker: A simulation experiment, Am. J. Hum. Genet. 28:167.
Li, C.C., 1961, Human Genetics: Principles and Methods, McGraw-Hill, New York, Toronto, London.
Mackay, R.P., and Myrianthopoulos, N.C., 1966, Multiple sclerosis in twins and their relatives, Arch. Neurol. 15:449.
McDevitt, H.O., and Bodmer, W.F., 1972, Histocompatibility antigens, immune responsiveness and susceptibility to disease, Am. J. Med. 52:1.
Naito, S., Namerow, N., Mickey, M.R., and Terasaki, P.I., 1972, MS-association with HL-A3, Tissue Antigens 2:1.
Ott, J., 1974, Estimation of the recombination fraction in human pedigrees: Efficient computation of the likelihood for human linkage studies, Am. J. Hum. Genet. 26:588.
Ott, J., 1978, A simple scheme for the analysis of HLA linkage in pedigrees, Ann. Hum. Genet. 42:255.
Platz, P., Ryder, L.P., Thomsen, M., Svejgaard, A., and Fog, T., 1979, HLA and multiple sclerosis: Genetic considerations, in: Humoral Immunity in Neurological Disease (D. Karcher, A. Lowenthal, and A.D. Strosberg, eds.), pp. 131–145, Springer Science+Business Media New York.
Roberts, J.A.F., 1970, An Introduction to Medical Genetics, Oxford University Press, London, New York, Toronto.
Rubinstein, P., Suciu-Foca, N., and Nicholson, J.F., 1977, Genetics of juvenile diabetes mellitus, N. Engl. J. Med. 297:1036.
Russell, T.J., Schultes, L.M., and Kuban, D.J., 1972, Histocompatibility (HL-A) antigens associated with psoriasis, N. Engl. J. Med. 287:738.
Ryder, L.P., and Svejgaard, A., 1977, Histocompatibility associated diseases, in: B and T Cells in Immune Recognition (F. Loor and G.E. Roelants, eds.), pp. 437–456, John Wiley, London, New York, Sydney, Toronto.
Ryder, L.P., Andersen, E., and Svejgaard, A. (eds), 1979, HLA and Disease Registry. Third Report, Munksgaard, Copenhagen.
Sandberg-Wollheim, M., Platz, P., Ryder, L.P., Nielsen, L.S., and Thomsen, M., 1975, HL-A histocompatibility antigens in optic neuritis, Acta Neurol. Scand. 52:161.
Schapira, K., Poskanzer, D.C., and Miller, H., 1963, Familial and conjugal multiple sclerosis, Brain 86:315.
Simon, M., Bourel, M., Genetet, B., and Fauchet, R., 1977, Idiopathic hemochromatosis: Demonstration of recessive transmission and early detection by family HLA typing, N. Engl. J. Med. 297:1017.
Smith, C., 1971, Discriminating between different modes of inheritance in genetic disease, Clin. Genet. 2:303.
Smith, C.A.B., 1975, A non-parametric test for linkage with a quantitative character, Ann. Hum. Genet. 38:451.
Smouse, P.E., and Williams, R.C., 1978, An alternative assessment strategy for HLA-disease associations, Ann. Hum. Genet., (submitted).
Stendahl-Brodin, L., Link, H., Möller, E., and Norrby, E., 1978, Optic neuritis and distribution of genetic markers of the HLA system, Acta Neurol. Scand. 57:418.
Suarez, B.K., 1978, The affected sib pair IBD distribution for HLA-linked disease susceptibility genes, Tissue Antigens 12:87.
Svejgaard, A., and Ryder, L.P., 1979, HLA markers and diseases, in: Genetic Analysis of Common Diseases: Applications to Predictive Factors in Coronary Heart Disease (C. Sing and M. Skolnick, eds.), p. 523, Alan R. Liss, New York.
Svejgaard, A., Platz, P., and Ryder, L.P., 1977, Associations between HLA and some non-rheumatic diseases and possible explanations, Clin. Rheum. Dis. 3:239.
Svejgaard, A., Platz, P., and Ryder, L.P., 1980, Insulin-dependent diabetes mellitus, in: Histocompatibility Testing 1980 (P.J. Terasaki, ed.), p. 638, UCLA Tissue Typing Laboratory, Los Angeles.
Thomson, G., and Bodmer, W.F., 1977, The genetics of HLA and disease associations, in Lecture Notes in Biomathematics: Measuring Selection in Natural Populations (F.B. Christiansen and T.M. Fenchel, eds.), pp. 545–564, Springer-Verlag, Berlin, Heidelberg, New York.
Woolf, B., 1955, On estimating the relation between blood group and disease, Ann. Hum. Genet. 19:251.
Author information
Authors and Affiliations
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 1981 Springer Science+Business Media New York
About this chapter
Cite this chapter
Ryder, L.P., Platz, P., Svejgaard, A. (1981). Histocompatibility Antigens and Susceptibility to Disease—Genetic Considerations. In: Reisfeld, R.A., Ferrone, S. (eds) Current Trends in Histocompatibility. Springer, Boston, MA. https://doi.org/10.1007/978-1-4684-3761-4_14
Download citation
DOI: https://doi.org/10.1007/978-1-4684-3761-4_14
Publisher Name: Springer, Boston, MA
Print ISBN: 978-1-4684-3763-8
Online ISBN: 978-1-4684-3761-4
eBook Packages: Springer Book Archive