Abstract
The association of HLA-A,B,C, DR polymorphisms and of Bf and GLO with coeliac disease was analysed in 100 Italian children. Primary involvement of HLA-DR3 and DR7 is apparent, while specificities of nearby loci are probably associated secondarily, because of linkage disequilibrium. Direct assessment of D/DR genotype through family studies and mixed lymphocyte cultures led to the recognition of two high risk genotypes DR3/3 and DR3/7, and of two lower risk genotypes DR3/X and DR7/X. The different weight of the HLA-dependent genetic factors is to some extent correlated with the clinical and immunological parameters, suggesting that the low-risk genotypes induce a milder expression of coeliac disease. Furthermore, other genetic factors, such as sex, appear to contribute to the penetrance of the disease, especially in the case of DR3/X and DR7/X.
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- Batchelor J. R., Welsh K. I., Tinoco R. M., Dollery C. T., Hughes G. R., Bernstein R., Ryan P., Naish P. F., Aber G. M., Bing R. F. Hydralazine-induced systemic lupus erythematosus: influence of HLA-DR and sex on susceptibility. Lancet. 1980 May 24;1(8178):1107–1109. doi: 10.1016/s0140-6736(80)91554-8. [DOI] [PubMed] [Google Scholar]
- Betuel H., Gebuhrer L., Percebois H., Descos L., Minaire Y., Bertrand J. Association de la maladie coeliaque de l'adulte avec HLA-DRW3 et -DRW7. Gastroenterol Clin Biol. 1979;3(6-7):605–606. [PubMed] [Google Scholar]
- Brautbar C., Freier S., Ashkenazi A., Dekelbaum R., Tur-Kaspa I., Amar A., Cohen I., Sharon R., Abecassis R., Levene C. Histocompatibility determinants in Israeli Jewish patients with coeliac disease: population and family study. Tissue Antigens. 1981 Mar;17(3):313–322. doi: 10.1111/j.1399-0039.1981.tb00706.x. [DOI] [PubMed] [Google Scholar]
- CARTER C., SHELDON W., WALKER C. The inheritance of coeliac disease. Ann Hum Genet. 1959 Jul;23:266–278. doi: 10.1111/j.1469-1809.1959.tb01470.x. [DOI] [PubMed] [Google Scholar]
- Cunningham-Rundles S., Cunningham-Rundles C., Pollack M. S., Good R. A., Dupont B. Response to wheat antigen in in vitro lymphocyte transformation among HLA-B8-positive normal donors. Transplant Proc. 1978 Dec;10(4):977–979. [PubMed] [Google Scholar]
- DeMarchi M., Borelli I., Olivetti E., Richiardi P., Wright P., Ansaldi N., Barbera C., Santini B. Two HLA-D and DR alleles are associated with coeliac disease. Tissue Antigens. 1979 Oct;14(4):309–316. doi: 10.1111/j.1399-0039.1979.tb00854.x. [DOI] [PubMed] [Google Scholar]
- Duquesnoy R. J. Immunogenetic aspects of the relationship between HLA-DR and the MB and MT system. Transplant Proc. 1981 Dec;13(4):1804–1807. [PubMed] [Google Scholar]
- Falchuk Z. M., Nelson D. L., Katz A. J., Bernardin J. E., Kasarda D. D., Hague N. E., Strober W. Gluten-sensitive enteropathy. Influence of histocompatibility type on gluten sensitivity in vitro. J Clin Invest. 1980 Aug;66(2):227–233. doi: 10.1172/JCI109848. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Falchuk Z. M., Rogentine G. N., Strober W. Predominance of histocompatibility antigen HL-A8 in patients with gluten-sensitive enteropathy. J Clin Invest. 1972 Jun;51(6):1602–1605. doi: 10.1172/JCI106958. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Falchuk Z. M. Update on gluten-sensitive enteropathy. Am J Med. 1979 Dec;67(6):1085–1096. doi: 10.1016/0002-9343(79)90651-x. [DOI] [PubMed] [Google Scholar]
- Ferguson A., Murray D. Quantitation of intraepithelial lymphocytes in human jejunum. Gut. 1971 Dec;12(12):988–994. doi: 10.1136/gut.12.12.988. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Greenberg D. A., Rotter J. I. Two locus models for gluten sensitive enteropathy: population genetic considerations. Am J Med Genet. 1981;8(2):205–214. doi: 10.1002/ajmg.1320080211. [DOI] [PubMed] [Google Scholar]
- Grundbacher F. J. Heritability estimates and genetic and environmental correlations for the human immunoglobulins G, M, and A. Am J Hum Genet. 1974 Jan;26(1):1–12. [PMC free article] [PubMed] [Google Scholar]
- Keuning J. J., Peña A. S., van Leeuwen A., van Hooff J. P., va Rood J. J. HLA-DW3 associated with coeliac disease. Lancet. 1976 Mar 6;1(7958):506–508. doi: 10.1016/s0140-6736(76)90294-4. [DOI] [PubMed] [Google Scholar]
- MACDONALD W. C., DOBBINS W. O., 3rd, RUBIN C. E. STUDIES OF THE FAMILIAL NATURE OF CELIAC SPRUE USING BIOPSY OF THE SMALL INTESTINE. N Engl J Med. 1965 Mar 4;272:448–456. doi: 10.1056/NEJM196503042720903. [DOI] [PubMed] [Google Scholar]
- Mancini G., Carbonara A. O., Heremans J. F. Immunochemical quantitation of antigens by single radial immunodiffusion. Immunochemistry. 1965 Sep;2(3):235–254. doi: 10.1016/0019-2791(65)90004-2. [DOI] [PubMed] [Google Scholar]
- Mann J. G., Brown W. R., Kern F., Jr The subtle and variable clinical expressions of gluten-induced enteropathy (adult celiac disease, nontropical sprue). An analysis of twenty-one consecutive cases. Am J Med. 1970 Mar;48(3):357–366. doi: 10.1016/0002-9343(70)90066-5. [DOI] [PubMed] [Google Scholar]
- Peña A. S., Mann D. L., Hague N. E., Heck J. A., van Leeuwen H. A., van Rood J. J., Strober W. Genetic basis of gluten-sentitive enteropathy. Gastroenterology. 1978 Aug;75(2):230–235. [PubMed] [Google Scholar]
- Rotter J. I. The modes of inheritance of insulin-dependent diabetes mellitus or the genetics of IDDM, no longer a nightmare but still a headache. Am J Hum Genet. 1981 Nov;33(6):835–851. [PMC free article] [PubMed] [Google Scholar]
- Roy-Choudhury D., Cooke W. T., Tan D. T., Banwell J. G., Smits B. J. Jejunal biopsy: criteria and significance. Scand J Gastroenterol. 1966;1(1):57–74. doi: 10.1080/00365521.1966.11800614. [DOI] [PubMed] [Google Scholar]
- Scholz S., Albert E. Vererbung der HLA-gekoppelten Krankheitsempfänglichkeit bei Zöliakie. MMW Munch Med Wochenschr. 1980 Apr 18;122(16):602–604. [PubMed] [Google Scholar]
- Stokes P. L., Asquith P., Holmes G. K., Mackintosh P., Cooke W. T. Histocompatibility antigens associated with adult coeliac disease. Lancet. 1972 Jul 22;2(7769):162–164. doi: 10.1016/s0140-6736(72)91330-x. [DOI] [PubMed] [Google Scholar]
- Svejgaard A., Ryder L. P. HLA genotype distribution and genetic models of insulin-dependent diabetes mellitus. Ann Hum Genet. 1981 Jul;45(Pt 3):293–298. doi: 10.1111/j.1469-1809.1981.tb00340.x. [DOI] [PubMed] [Google Scholar]
- Thomson G., Bodmer W. HLA haplotype associations with disease. Tissue Antigens. 1979 Feb;13(2):91–102. doi: 10.1111/j.1399-0039.1979.tb01144.x. [DOI] [PubMed] [Google Scholar]