The CTLA-4 gene region of chromosome 2q33 is linked to, and associated with, type 1 diabetes

Human Molecular Genetics

Volumn 5, Issue 7, 1996, Pages 1075-1080

  Nisticò, Lorenza ^a,b   Buzzetti, Raffaella ^a   Pritchard, Lynn E ^c   Van Der Auwera, Bart ^d   Giovannini, Claudio ^a   Bosi, Emanuele ^e   Martinez Larrad, Maria Teresa ^f   Rios, Manuel Serrano ^f   Chow, C C ^g   Cockram, Clive S ^g   Jacobs, Karen ^h   Mijovic, Catherine ^h   Bain, Stephen C ^h   Barnett, Anthony H ^h   Vandewalle, Christina L ^d   Schuit, Frans ^d   Gorus, Frans K ^d   Tosi, Roberto ^b   Pozzilli, Paolo ^a   Todd, John A ^c  

^a SAPIENZA UNIVERSITY OF ROME   (Italy)

^b CNR   (Italy)

^c UNIVERSITY OF OXFORD   (United Kingdom)

^d VRIJE UNIVERSITEIT BRUSSEL   (Belgium)

^e UNIVERSITY OF MILAN   (Italy)

^f UNIVERSIDAD COMPLUTENSE DE MADRID   (Spain)

^g CHINESE UNIVERSITY OF HONG KONG   (Hong Kong)

^h UNIVERSITY DEPARTMENT OF MEDICINE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOTOXIC T LYMPHOCYTE ANTIGEN 4; T LYMPHOCYTE RECEPTOR;

ARTICLE; AUTOIMMUNITY; CHROMOSOME 2Q; CONGENITAL DISORDER; GENETIC LINKAGE; GENETIC SUSCEPTIBILITY; GRAVES DISEASE; HUMAN; INSULIN DEPENDENT DIABETES MELLITUS; MAJOR CLINICAL STUDY; PRIORITY JOURNAL;

ANTIGENS, CD; ANTIGENS, DIFFERENTIATION; CASE-CONTROL STUDIES; CHROMOSOMES, HUMAN, PAIR 2; DIABETES MELLITUS, TYPE 1; EXONS; GENETIC PREDISPOSITION TO DISEASE; GRAVES DISEASE; HUMANS; IMMUNOCONJUGATES; LINKAGE (GENETICS); NUCLEAR FAMILY; POINT MUTATION; POLYMORPHISM, GENETIC;

EID: 8944259914     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/5.7.1075     Document Type: Article

References (46)

1. Vyse, T.V. and Todd, J.A. (1996) Genetic analysis of autoimmune disease. Cell 85, 311-318.
2. Cucca, F. and Todd, J.A. In Browning, M.J. and McMichael, A.J. (eds), HLA/MHC: genes, molecules and function. βIOS Scientific Publishers, Oxford, 1996 (in press).
3. Bell, G.I., Horita, S. and Karam, J.H. (1984) A polymorphic locus near the human insulin gene is associated with insulin-dependent diabetes mellitus. Diabetes 33, 176-83.
4. Julier, C., Hyer, R.N., Davies, J., Merlin, F., Soularu, P., Briant, L., Cathelineau, G., Deschamps, I., Rotter, J.I., Froguel, P., Boitard, C., Bell, J.I. and Lathrop, G.M. (1991) Insulin-IGF2 region on chromosome 11p encodes a gene implicated in HLA-DR4-dependent diabetes susceptibility. Nature 354, 155-9.
5. Bain, S.C., Prins, J.B., Hearne, C.M., Rodrigues, N.R., Rowe, B.R., Pritchard, L.E., Ritchie, R.J., Hall, J.R.S., Undlien, D.E., Ronningen, K.S., Dunger, D.B., Barnett, A.M. and Todd, J.A. (1992) Insulin gene region-encoded susceptibility to type 1 diabetes is not restricted to HLA-DR4-positive individuals. Nature Genet. 2, 212-15.
6. Bennett, S.T., Lucassen, A.M., Gough, S.C.L., Powell, E.E., Undlien, D.E., Pritchard, L.E., Merriman, M.E., Kawaguchi, Y., Dronsfield, M., Pociot, F., Nerup, J., Bouzekri, N., Cambon-Thomsen, A., Rønningen, K.S., Barnett, A.H., Bain, S.C. and Todd, J.A. (1995) Susceptibility to human type 1 diabetes at IDDM2 is determined by tandem repeat variation at the insulin gene minisatellite locus. Nature Genet. 9, 284-92.
7. Risch, N. (1987) Assessing the role of HLA-linked and unlinked determinants of disease. Am. J. Hum. Genet. 40, 1-14.
8. Cordell, H.J., Todd, J.A., Bennett, S.T., Kawaguchi, Y. and Farrall, M. (1995) Two-locus maximum lod score analysis of a polygenic trait: joint consideration of IDDM2 and IDDM4 with IDDM1 in type 1 diabetes. Am. J. Hum. Genet. 57, 920-34.
9. Gyapay, G., Morissette, J., Vignal, A., Dib, C., Fizames, C., Millasseau, P., Marc, S., Bernardi, G., Lathrop, G. and Weissenbach, J. (1994) 1993-1994 Généthon Human genetic linkage map. Nature Genet. 7, 246-339.
10. Reed, P.W., Davies, J.L., Copeman, J.B., Bennett, S.T., Palmer, S.M., Pritchard, L.E., Gough, S.C.L., Kawaguchi, Y., Cordell, H.J., Balfour, K.M., Jenkins, S.C., Powell, E.E., Vignal, A. and Todd, J.A. (1994) Chromosome- specific microsatellite sets for fluorescence-based, semi-automated genome mapping. Nature Genet. 7, 390-5.
11. Bain, S.C., Todd, J.A. and Barnett, A.H. (1990) The British Diabetic Association - Warren Repository. Autoimmunity 7, 83-5.
12. Davies, J.L., Kawaguchi, Y., Bennett, S.T., Copeman, J.B., Cordell, H.J., Pritchard, L.E., Reed, P.W., Gough, S.C.L., Jenkins, S.C., Palmer, S.M., Balfour, K.M., Rowe, B., Farrall, M., Barnett, A.H., Bain, S.C. and Todd, J.A. (1994) A genome-wide search for human type 1 diabetes susceptibility genes. Nature 311, 130-6.
13. Hashimoto, L., Habita, C., Beressi, J., Delepine, M., Besse, C., Cambon-Thomsen, A., Deschamps, I., Rotter, J., Djoulah, S., James, M., Froguel, P., Weissenbach, J., Lathrop, G. and Julier, C. (1994) Genetic mapping of a susceptibility locus for insulin-dependent diabetes mellitus on chromosome 11q. Nature 371, 161-4.
14. Field, L., Tobias, R. and Magnus, T. (1994) A locus on chromosome 15q26 (IDDM3) produces susceptibility to insulin-dependent diabetes mellitus. Nature Genet. 8, 189-94.
15. Copeman, J.B., Cucca, F., Hearne, C.M., Cornall, R.J., Reed, P.W., Rønningen, K.S., Undlien, D.E., Nisticò, L., Buzzetti, R., Tosi, R., Pociot, F., Nerup, J., Cornélis, F., Barnett, A.H., Bain, S.C. and Todd, J.A. (1995) Linkage disequilibrium mapping of a type 1 diabetes susceptibility gene (IDDM7) to human chromosome 2q31-q33. Nature Genet. 9, 80-5.
16. Owerbach, D. and Gabbay, K.H. (1995) The HOXD8 locus (2q31) is linked to type 1 diabetes. Diabetes 44, 132-6.
17. Luo, D.-F., Maclaren, N.K., Huang, H.-S., Muir, A. and She, J.-X. (1995) Intrafamilial and case-control association analyses of D2S152 in insulin-dependent diabetes mellitus. Autoimmunity 21, 143-7.
18. Luo, D.-F., Bui, M.M., Muir, A., Maclaren, N.K., Thomson, G. and She, J.-X. (1995) Affected sibpair mapping of a novel susceptibility gene to insulin-dependent diabetes mellitus (IDDM8) on chromosome 6q25-q27. Am. J. Hum. Genet. 57, 911-19.
19. Cornall, R.J., Prins, J.-B., Todd, J.A., Pressey, A., DeLarato, N.H., Wicker, L.S. and Peterson, L.B. (1991) Type 1 diabetes in mice is linked to the interleukin-1 receptor and Lsh/Ity/Bcg genes on chromosome 1. Nature 353, 262-5.
20. Harper, K., Balzano, C., Rouvier, E., Mattel, M.-G., Luciani, M.-F. and Golstein, P. (1991) CTLA-4 and CD28 activated lymphocyte molecules are closely related in both mouse and human as to sequence, message expression, gene structure, and chromosomal location. J. Immunol. 147, 1037-44.
21. Robey, E. and Allison, J.P. (1995) T-cell activation: integration of signals from the antigen receptor and costimulatory molecules. Immunol. Today 16, 306-9.
22. Gribben, J.G., Freeman, G.J., Boussiotis, V.A., Rennert, P., Jellis, C.L., Greenfield, E., Barber, M., Restivo, V.A.J., Ke, X. and Gray, G.S. (1995) CTLA-4 mediates antigen-specific apoptosis of human T cells. Proc. Natl Acad. Sci. USA 92, 811-15.
23. Green, J.M., Noel, P.J., Sperling, A., Walunas, T.L., Gray, G.S., Bluestone, J.A. and Thompson, C.B. (1994) Absence of B7-dependent reponses in CD28 deficient mice. Immunity 1, 501-8.
24. Waterhouse, P., Penninger, J.M., Timms, E., Wakeman, A., Shahinian, A., Lee, K.P., Thompson, C.B., Griesser, H. and Mak, T.W. (1995) Lymphoproliferative disorders with early lethality in mice deficient in Ctla-4. Science 270, 985-8.
25. Pritchard, L.E., Kawaguchi, Y., Reed, P.W., Copeman, J.B., Davies, J.L., Barnett, A.H., Bain, S.C. and Todd, J.A. (1995) Analysis of the CD3 region and type 1 diabetes: application of fluorescence-based technology to linkage disequilibrium mapping. Hum. Mol. Genet. 4, 197-202.
26. Thomson, G. (1995) Mapping disease genes: family-based association studies. Am. J. Hum. Genet. 57, 487-98.
27. Van der Auwera, B., Schuit, F., Lyaruu, I., Falorni, A., Svanholm, S., Vandewalle, C.L., Gorus, F.K. and Registry, B.D. (1995) Genetic susceptibility for insulin-dependent diabetes mellitus in Caucasians revisited: the importance of diabetes registries in disclosing interactions between HLA- DQ- and insulin gene-linked risk. J. Clin. Endocrinol. Metab. 80, 2567-73.
28. Payami, H., Joe, S. and Thomson, G. (1989) Autoimmune thyroid disease in type 1 diabetic families. Genet. Epidemiol. 6, 137-41.
29. Yanagawa, T., Hidaka, Y., Guimaraes, V., Soliman, M. and DeGroot, L.J. (1995) CTLA-4 gene polymorphism associated with Graves's Disease in a Caucasian population. J. Clin. Endocrinol. Metabol. 80, 41-5.
30. Shaw, G. and Kamen, R. (1986) A conserved AU sequence from the 3′ untranslated region of GM-CSF mRNA mediates selective mRNA degradation. Cell 46, 659-67.
31. Lucassen, A., Julier, C., Beressi, J.-P., Boitard, C., Froguel, P., Lathrop, G. and Bell, J. (1993) Susceptibility to insulin dependent diabetes mellitus maps to a 4.1 kb segment of DNA spanning the insulin gene and associated VNTR. Nature Genet. 4, 305-10.
32. Charlton, B. and Lafferty, K.J. (1995) The Th1/Th2 balance in autoimmunity. Curr. Opin. Immunol. 7, 793-8.
33. Nagata, S. and Suda, T. (1995) Fas and Fas ligand: lpr and gld mutations. Immunol. Today 16, 39-43.
34. Garchon, H.-J., Luan, J.-J., Eloy, L., Bedossa, P. and Bach, J.-F. (1994) Genetic analysis of immune dysfunction in non-obese diabetic (NOD) mice: mapping of a susceptibility locus close to the Bcl-2 gene correlates with increased resistance of NOD T cells to apoptosis induction. Eur. J. Immunol. 24, 380-4.
35. Penha-Goncalves, C., Leijon, K., Persson, L. and Holmberg, D. (1995) Type 1 diabetes and the control of dexamethazone-induced apoptosis in mice maps to the same region on chromosome 6. Genomics 28, 398-404.
36. Rieux-Laucat, F., Le Deist, F., Hivroz, C., Roberts, I.A.G., Debatin, K.M., Fischer, A. and de Villarty, J.P. (1995) Mutations in Fas associated with human lymphoproliferative syndrome and autoimmunity. Science 268, 1347-9.
37. Fisher, G.H., Rosenberg, F.J., Straus, S.E., Dale, J.K., Middelton, L.A., Lin, A.Y., Strober, W., Lenardo, M.J. and Puck, J.M. (1995) Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome. Cell 81, 935-46.
38. Pozzilli, P., Visalli, N., Boccuni, M.L., Baroni, M.G., Buzzetti, R., Fioriti, E., Signore, A., Cavallo, M.G., Andreani, D., Lucentini, L., Crinò, A., Cicconetti, C.A., Teodonio, C., Amoretti, R., Pisano, L., Pennafina, M.G., Santopadre, G., Marozzi, G., Multari, G., Campea, L., Suppa, M.A., Mattia, G.C., Cassone-Fadetta, M., Marietti, G., Perrone, F., Greco, A.V. and Ghirlanda, G. (1994) Randomised trial comparing nicotinamide and nicotinamide plus cyclosporin in recent onset insulin-dependent diabetes (IMDIAB 1). Diabetic Med. 11, 98-104.
39. Lernmark, A.. Ducat, L., Eisenbarth, G., Ott, J., Permutt, M.A., Rubenstein, P. and Spielman, R. (1990) Family Cell Lines Available for Research. Am. J. Hum. Genet. 47, 1028-30.
40. Cavan, D.A., Penny, M.A., Jacobs, K.H., Kelly, M.A., Jenkins, D., Mijovic, C., Chow, C., Cockram, C.S., Hawkins, B.R. and Barnett, A.H. (1994) The HLA association with Graves' disease is sex specific in Hong Kong Chinese subjects. Clin. Endocrinol. 40, 63-6.
41. Weber, J.L. and May, P.E. (1989) Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction. Am. J. Hum. Genet. 44, 388-96.
42. Risch, N. (1990) Linkage strategies for genetically complex traits. I. Multilocus models. Am. J. Hum. Genet. 46, 222-8.
43. Kruglyak, L. and Lander, E.S. (1995) Complete multipoint sib-pair analysis of qualitative and quantitative traits. Am. J. Hum. Genet. 57, 439-54.
44. Holmans, P. (1993) Asymptotic properties of affected-sib-pair linkage analysis. Am. J. Hum. Genet. 52, 362-74.
45. O'Connell, J.R. and Weeks, D.E. (1995) The VITESSE algorithm for rapid exact multilocus linkage analysis via genotype set-recording and fuzzy inheritance. Nature Genet. 11, 402-8.
46. Spielman, R., McGinnis, R. and Ewens, W. (1993) Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM). Am. J. Hum. Genet. 52, 506-16.