The cytotoxic T lymphocyte antigen-4 is a major Graves' disease locus

Human Molecular Genetics

Volumn 8, Issue 7, 1999, Pages 1195-1199

  Vaidya, Bijayeswar ^a   Imrie, Helen ^a   Perros, Petros ^b   Young, Eric T ^c   Kelly, William F ^d   Carr, David ^e   Large, David M ^f   Toft, Anthony D ^g   McCarthy, Mark I ^h   Kendall Taylor, Pat ^a   Pearce, Simon H S ^a  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b FREEMAN HOSPITAL   (United Kingdom)

^c WANSBECK GENERAL HOSPITAL   (United Kingdom)

^d JAMES COOK UNIVERSITY HOSPITAL   (United Kingdom)

^e UNIVERSITY HOSPITAL OF NORTH TEES   (United Kingdom)

^f CUMBERLAND INFIRMARY   (United Kingdom)

^g ROYAL INFIRMARY OF EDINBURGH   (United Kingdom)

^h IMPERIAL COLLEGE SCHOOL OF MEDICINE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; CYTOTOXIC T LYMPHOCYTE ANTIGEN 4; THREONINE;

ADOLESCENT; ADULT; AGED; ALLELE; ARTICLE; AUTOIMMUNE DISEASE; CHROMOSOME 2Q; CHROMOSOME 6P; CONTROLLED STUDY; FEMALE; GENE LOCUS; GENETIC LINKAGE; GENETIC POLYMORPHISM; GENOTYPE; GRAVES DISEASE; HUMAN; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; SCHOOL CHILD; SIBLING;

ANTIGENS, CD; ANTIGENS, DIFFERENTIATION; AUTOIMMUNE DISEASES; CHROMOSOMES, HUMAN, PAIR 2; CHROMOSOMES, HUMAN, PAIR 6; FEMALE; GRAVES DISEASE; HAPLOTYPES; HUMANS; IMMUNOCONJUGATES; LINKAGE (GENETICS); MAJOR HISTOCOMPATIBILITY COMPLEX; MALE;

EID: 0032776137     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/8.7.1195     Document Type: Article

References (46)

1. Tunbridge, W.G.M., Evered, D.C., Hall, R., Appleton, D., Brewis, M., Clark, F., Evans, J.G., Young, E., Bird, T. and Smith, P.A. (1977) The spectrum of thyroid disease in a community: the Whickham survey. Clin. Endocrinol., 7, 481-493.
2. Stenszky, V., Kozma, L., Balâzs, C., Rochlitz, S., Bear, J.C. and Farid, N.R. (1985) The genetics of Graves' disease: HLA and disease susceptibility. J. Clin. Endocrinol. Metab., 61, 735-740.
3. Bartels, E.D. (1941) Heredity in Graves' Disease. Einar Munksgaard, Copenhagen.
4. Brix, T.H., Christensen, K., Holm, N.V., Harvald, B. and Hegedüs, L. (1998) A population-based study of Graves' disease in Danish twins. Clin. Endocrinol., 48, 397-400.
5. Vyse, T.J. and Todd, J.A. (1996) Genetic analysis of autoimmune disease. Cell, 85, 311-318.
6. 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.R., 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, 371, 130-136.
7. Hashimoto, L., Habita, C., Beressi, J.P., Delepine, M., Besse, C., Cambon-Thomsen, A., Deschamps, I., Rotter, J.I., Djoulah, S., James, M.R., Froguel, P., Weissenbach, J., Lanthrop, G.M. and Julier, C. (1994) Genetic mapping of a susceptibility locus for insulin-dependent diabetes mellitus on chromosome 11q. Nature, 371, 161-164.
8. Concannon, P., Gogolin-Ewens, K.J., Hinds, D.A., Wapelhorst, B., Morrison, V.A., Stirling, B., Mitra, M., Farmer, J., Williams, S.R., Cox, N.J., Bell, G.I., Risch, N. and Spielman, R.S. (1998) A second-generation screen of the human genome for susceptibility to insulin-dependent diabetes mellitus. Nature Genet., 19, 292-296.
9. Mein, C.A., Esposito, L., Dunn, M.G., Johnson, G.C.L., Timms, A.E., Goy, J.V., Smith, A.N., Sebag-Montefiore, L., Merriman, M.E., Wilson, A.J., Pritchard, L.E., Cucca, F., Barnett, A.H., Bain, S.C. and Todd, J.A. (1998) A search for type 1 diabetes susceptibility genes in families from the United Kingdom. Nature Genet., 19, 297-300.
10. Volpé, R. (1990) Immunology of human thyroid disease. In Volpé, R. (ed.), Autoimmune Diseases of the Endocrine System. CRC Press, Boca Raton, FL, pp. 73-239.
11. Torfs, C.P., King, M.C., Huey, B., Malmgren, J. and Grumet, F.C. (1986) Genetic interrelationship between insulin-dependent diabetes mellitus, the autoimmune thyroid diseases, and rheumatoid arthritis. Am. J. Hum. Genet., 38, 170-187.
12. Payami, H., Joe, S. and Thomson, G. (1989) Autoimmune thyroid disease in type 1 diabetic families. Genet. Epidemiol., 6, 137-141.
13. Payami, H., Joe, S., Farid, N.R., Stenszky, V., Chan, S.H., Yeo, P.P.B., Cheah, J.S. and Thomson, G. (1989) Relative predispositional effects (RPEs) of marker alleles with disease: HLA-DR alleles and Graves disease. Am. J. Hum. Genet., 45, 541-546.
14. Yanagawa, T., Mangklabruks, A., Chang, Y.B., Okamoto, Y., Fisfalen, M.E., Curran, P.G. and DeGroot, L.J. (1993) Human histocompatability leukocyte antigen - DQA1*0501 allele associated with genetic susceptibility to Graves' disease in a Caucasian population. J. Clin. Endocrinol. Metab., 16, 1569-1574.
15. Heward, J.M., Allahabadia, A., Daykin, J., Carr-Smith, J., Daly, A., Armitage, M., Dodson, P.M., Sheppard, M.C., Barnett, A.H., Franklyn, J.A. and Cough, S.C.L. (1998) Linkage disequilibrium between the human leukocyte antigen class II region of the major histocompatibility complex and Graves' disease. J. Clin. Endocrinol. Metab., 83, 3394-3397.
16. Uno, H., Sasazuki, T., Tamai, H. and Matsumoto, H. (1981) Two major genes, linked to HLA and Gm, control susceptibility to Graves' disease. Nature, 292, 768-770.
17. Shields, D.C., Ratanachaiyavong, S., McGregor, A.M., Collins, A. and Morton, N.E. (1994) Combined segregation and linkage analysis of Graves disease with a thyroid autoantibody diathesis. Am. J. Hum Genet., 55, 540-554.
18. Roman, S.H., Greenberg, D., Rubinstein, P., Wallenstein, S. and Davies, T.F. (1992) Genetics of autoimmune thyroid disease: lack of evidence for linkage to HLA within families. J. Clin. Endocrinol. Metab., 74, 496-503.
19. Tomer, Y., Barbesino, G., Keddache, M., Greenberg, D.A. and Davies, T.F. (1997) Mapping of a major susceptibility locus for Graves' disease (GD-1) to chromosome 14q31. J. Clin. Endocrinol. Metab., 82, 1645-1648.
20. Cuddihy, R.M., Dutton, C.M. and Bahn, R.S. (1995) A polymorphism in the extracellular domain of the thyrotropin receptor is highly associated with autoimmune thyroid disease in females. Thyroid, 5, 89-95.
21. Blakemore, A.I.F., Watson, P.F., Weetman, A.P. and Duff, G.W. (1995) Association of Graves' disease with an allele of the interleukin-1 receptor antagonist gene. J. Clin. Endocrinol. Metab., 80, 111-115.
22. Demaine, A., Welsh, K.I., Hawe, B.S. and Farid, N.R. (1987) Polymorphism of the T cell receptor β-chain in Graves' disease. J. Clin. Endocrinol. Metab., 65, 643-646.
23. Tassi, V., Scarnecchia, L., Di Cerbo, A., Pirro, M.T., Di Paola, R., Liuzzi, A., Torlontano, M., Zingrillo, M., D'Aloiso, L. and De Filippis, V. (1995) A thyroid hormone receptor β gene polymorphism associated with Graves' disease. J. Mol. Endocrinol., 15, 267-272.
24. Kotsa, K.D., Watson, P.F. and Weetman, A.P. (1997) No association between a thyrotropin receptor gene polymorphism and Graves' disease in the female population. Thyroid, 7, 31-33.
25. Cuddihy, R.M. and Bahn, R.S. (1996) Lack of an association between alleles of interleukin-1 alpha and interleukin-1 receptor antagonist genes and Graves' disease in a North American Caucasian population. J. Clin. Endocrinol. Metab., 81, 4476-4478.
26. Tomer, Y., Barbesino, G., Greenberg, D.A., Concepcion, E. and Davies, T.F. (1998) A new Graves disease-susceptibility locus maps to chromosome 20q11.2. Am. J. Hum. Genet., 63, 1749-1756.
27. Barbesino, G., Tomer, Y., Concepcion, E.S., Davies, T.F. and Greenberg, D.A. (1998) Linkage analysis of candidate genes in autoimmune thyroid disease. II. Selected gender-related genes and the X chromosome. J. Clin. Endocrinol. Metab., 83, 3290-3295.
28. Waterhouse, P., Penninger, J.M., Timms, E., Wakeham, 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, 985-988.
29. Copeman, J.B., Cucca, F., Heame, CM., 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.M., Bain, S.C. and Todd, J.A. (1995) Linkage disequilibrium mapping of a type 1 diabetes susceptibility gene (IDDM 7) to chromosome 2q31-q33. Nature Genet., 9, 80-85.
30. Nisticò, L., Buzzetti, R., Pritchard, L.E., Van der Auwera, B., Giovannini, C., Bosi, E., Larrad, M.T.M., Rios, M.S., Chow, C.C., Cockram, C.S., Jacobs, K., Mijovic, C., Bain, S.C., Barnett, A.H., Vandewalle, C.L., Schuit, F., Gorus, F.K., Belgian Diabetes Registry, Tosi, R., Pozzilli, P. and Todd, J.A. (1996) The CTLA-4 gene region of chromosome 2q33 is linked to, and associated with, type 1 diabetes. Hum. Mol. Genet., 5, 1075-1080.
31. Marron, M.P., Raffel, L.J., Garchon, H.J., Jacob, C.O., Serrano-Rios, M., Larrad, M.T.M., Teng, W.P., Park, Y., Zhang, Z.X., Goldstein, D.R., Tao, Y.W., Beaurain, G., Bach, J.F., Huang, H.S., Luo, D.F., Zeidler, A., Rotter, J.I., Yang, M.C.K., Modilevsky, T., Maclaren N.K. and She, J.X. (1997) Insulin-dependent diabetes mellitus (IDDM) is associated with CTLA4 polymorphisms in multiple ethnic groups. Hum. Mol. Genet., 6, 1275-1282.
32. Donner, H., Rau, H., Walfish, P.G., Braun, J., Siegmund, T., Finke, R., Herwig, J., Usadel, K.H. and Badenhoop, K. (1997) CTLA4 alanine-17 confers genetic susceptibility to Graves' disease and to type 1 diabetes mellitus. J. Clin. Endocrinol. Metab., 82, 143-146.
33. Yanagawa, T., Hidaka, Y., Guimaraes, V., Soliman, M. and DeGroot, L.J. (1995) CTLA-4 gene polymorphism associated with Graves' disease in a Caucasian population. J. Clin. Endocrinol. Metab., 80, 41-45.
34. Kotsa, K., Watson, P.F. and Weetman, A.P. (1997) A CTLA-4 gene polymorphism is associated with both Graves disease and autoimmune hypothyroidism. Clin. Endocrinol., 46, 551-554.
35. Donner, H., Braun, J., Seidl, C., Rau, H., Finke, R., Ventz, M., Walfish, P.G., Usadel, K.H. and Badenhoop, K. (1997) Codon 17 polymorphism of the cytotoxic T lymphocyte antigen 4 gene in Hashimoto's thyroiditis and Addison's disease. J. Clin. Endocrinol. Metab., 82, 4130-4132.
36. Yanagawa, T., Taniyama, M., Enomoto, S., Gomi, K., Maruyama, H., Ban, Y. and Saruta, T. (1997) CTLA4 gene polymorphism confers susceptibility to Graves' disease in Japanese. Thyroid, 7, 843-846.
37. Barbesino, G., Tomer, Y., Concepcion, E., Davies, T.F., Greenberg, D.A. and the International Consortium for the Genetics of Autoimmune Thyroid Disease. (1998) Linkage analysis of candidate genes in autoimmune thyroid disease: 1. Selected immunoregulatory genes. J Clin. Endocrinol. Metab., 83, 1580-1584.
38. Risch, N. (1987) Assessing the role of HLA-linked and unlinked determinants of disease. Am. J. Hum. Genet., 40, 1-14.
39. Werner, S.C. (1977) Modification of the classification of the eye changes of Graves' disease: recommendations of the ad hoc committee of the American Thyroid Association. J. Clin. Endocrinol. Metab., 44, 203-204.
40. Pearce, S.H.S., Trump, D., Wooding, C., Besser, G.M., Chew, S.L., Grant, D.B., Heath, D.A., Hughes, I.A., Paterson, C.R., Whyte, M.P. and Thakker, R.V. (1995) Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism. J. Clin. Invest., 96, 2683-2692.
41. Kruglyak, L., Daly, M.J., Reeve-Daly, M.P. and Lander, E.S. (1996) Parametric and nonparametric linkage analysis: a unified multipoint approach. Am. J. Hum. Genet., 58, 1347-1363.
42. Kruglyak, L. and Lander, E.S. (1995) Complete multipoint sib-pair analysis of qualitative and quantitative traits. Am. J. Hum. Genet., 57, 439-454.
43. Kong, A. and Cox, N.J. (1997) Allele-sharing models: LOD scores and accurate linkage tests. Am. J. Hum. Genet., 61, 1179-1188.
44. Cox, N.J., Frigge, M., Nicolae, D.L., Concannon, P., Hanis, C.L., Bell, G.I. and Kong, A. (1999) Loci on chromosomes 2 (NIDDM1) and 15 interact to increase susceptibility to diabetes in Mexican Americans. Nature Genet., 21, 213-215.
45. Curtis, D. (1997) Use of siblings as controls in case-control association studies. Ann. Hum. Genet., 61, 319-333.
46. Woolfe, B. (1995) On estimating the relation between blood group and disease. Ann. Hum Genet., 19, 251-253.