Preview

Diabetes mellitus

Advanced search

The role of common genetic markers in susceptibility to type 1 diabetes and autoimmune thyroid diseases

https://doi.org/10.14341/2072-0351-5630

Abstract

This review generalizes current data on the genes responsible for combined susceptibility to type 1 diabetes and autoimmune thyroid diseases. Analysisof the role of common genetic markers facilitates understanding their contribution to the development of each of the two or several concomitantautoimmune diseases affecting a single patient

About the Author

Ekaterina Alexandrovna Repina
Endocrinological Research Centre, Moscow


References

1. Becker K.G., Simon R.M., Bailey-Wilson J.E., Freidlin B., Biddison W.E., McFarland H.F., Trent J.M. Clustering of non-major histocompatibility complex susceptibility candidate loci in human autoimmune diseases // Proc. Natl. Acad. Sci. USA. - 1998. - № 95. - P. 9979-9984.

2. Encinas J.A., Kuchroo V.K. Mapping and identification of autoimmunity genes // Curr. Opin. Immunol. - 2000. - № 12 - P. 691-697.

3. Bias W.B., Reveille J.D., Beaty T.H., Meyers D.A., Arnett F.C. Evidence that autoimmunity in man is a Mendelian dominant trait // Am. J. Hum. Genet. - 1986. - № 39. - P. 584-602.

4. Vyse T.J., Todd J.A. Genetic analysis of autoimmune disease. // Cell. - 1996. - № 85. - P. 311-318.

5. Anaya J.M., Castiblanco J., Tobon G.J., Garcia J., Abad V., Cuervo H., Velasquez A., Angel I.D., Vega P., Arango A. Familial clustering of autoimmune diseases in patients with type 1 diabetes mellitus // J. Autoimmun. - 2006. - № 26. - P. 208-214.

6. McCanlies E., O'Leary L.A., Foley T.P., Kramer M.K., Burke J.P., Libman A., Swan J.S., Steenkiste A.R., McCarthy B.J., Trucco M., Dorman J.S. Hashimoto's thyroiditis and insulin-dependent diabetes mellitus: differences among individuals with and without abnormal thyroid function // J. Clin. Endocrinol. Metab. - 1998. - № 83. - P. 1548-1551.

7. Dittmar M., Kahaly G.J. Polyglandular autoimmune syndromes: immunogenetics and long-term follow-up // J. Clin. Endocrinol. Metab. - 2003. - № 88. - P. 2983-2992.

8. Levin L., Tomer Y. The etiology of autoimmune diabetes and thyroiditis: evidence for common genetic susceptibility // Autoimmun. Rev. - 2003. - 2. - P. 377-386.

9. Huber A., Menconi F., Corathers S., Jacobson E.M., Tomer Y. Joint genetic susceptibility to type 1 diabetes and autoimmune thyroiditis: from epidemiology to mechanisms // Endocr. Rev. - 2008. - № 29. - P. 697-725.

10. Burek C.L., Rose N.R., Guire K.E., Hoffman W.H. Thyroid autoantibodies in black and in white children and adolescents with type 1 diabetes mellitus and their first degree relatives // Autoimmunity. - 1990. - № 7. - P. 157-167.

11. Jaeger C., Hatziagelaki E., Petzoldt R., Bretzel R.G. Comparative analysis of organ-specific autoantibodies and celiac disease--associated antibodies in type 1 diabetic patients, their first-degree relatives, and healthy control subjects // Diabetes Care. - 2001. - № 24. - P. 27-32.

12. Sougioultzoglou F., Falorni A., Kassi G., Brozzetti A., Karamitsos D., Koliakos G.G. Coincidence of high antiislet and antithyroid autoantibody titles in first-degree relatives of patients with type 1 diabetes // Exp. Clin. Endocrinol. Diabetes. - 2005. - № 113. - P. 85-89.

13. Kontiainen S., Schlenzka A., Koskimies S., Rilva A., Maenpaa J. Autoantibodies and autoimmune diseases in young diabetics // Diabetes Res. - 1990. - № 13. - P. 151-156.

14. Kordonouri O., Deiss D., Danne T., Dorow A., Bassir C., Gruters-Kieslich A. Predictivity of thyroid autoantibodies for the development of thyroid disorders in children and adolescents with Type 1 diabetes. // Diabet Med. - 2002. - № 19. - P. 518-521.

15. Bright G.M., Blizzard R.M., Kaiser D.L., Clarke W.L. Organ-specific autoantibodies in children with common endocrine diseases // J. Pediatr. - 1982. - № 100. - P. 8-14.

16. Eisenbarth G.S., Gottlieb P.A. Autoimmune polyendocrine syndromes // N. Engl. J. Med. - 2004. - № 350. - P. 2068-2079.

17. Wallaschofski H., Meyer A., Tuschy U., Lohmann T. HLA-DQA1*0301- associated susceptibility for autoimmune polyglandular syndrome type II and III // Horm. Metab. Res. - 2003. - № 35. - P. 120-124.

18. Алексеев Л.П., Дедов И.И., Хаитов Р.М., Болдырева М.Н., Шестакова М.В., Петеркова В.А., Кураева Т.Л., Прокофьев С.А. Клиническая значимость определения HLA-DRB1-генотипов, ассоциированных с предрасположенностью или устойчивостью к сахарному диабету 1 типа в различных этнических группах России // Сахарный диабет. - 2007. - № 3. - С. 2-5.

19. Santamaria P., Barbosa J.J., Lindstrom A.L., Lemke T.A., Goetz F.C., Rich S.S. HLA-DQB1-associated susceptibility that distinguishes Hashimoto's thyroiditis from Graves' disease in type I diabetic patients // J. Clin. Endocrinol. Metab. - 1994. - № 78. - P. 878-883.

20. Torfs C.P., King M-C., Huey B., Malmgren J., Grumet F.C. Genetic interrelationship between insulin-dependent diabetes mellitus, the autoimmune thyroid diseases, and rheumatoid arthritis // Am. J. Hum. Genet. - 1986. - № 38. - P. 170-187.

21. Дедов И.И., Колесникова Л.И., Бардымова Т.П. Клинические, генетические и метаболические особенности сахарного диабета у больных бурятской популяции // Сахарный диабет. - 2006. - № 3. - С. 2-5.

22. Levin L., Ban Y., Concepcion E., Davies T.F., Greenberg D.A., Tomer Y. Analysis of HLA genes in families with autoimmune diabetes and thyroiditis // Hum. Immunol. - 2004. - № 65. - P. 640-647.

23. Golden B., Levin L., Ban Y., Concepcion E., Greenberg D.A., Tomer Y. Genetic analysis of families with autoimmune diabetes and thyroiditis: evidence for common and unique genes // J. Clin. Endocrinol. Metab. - 2005. - № 90. - P. 4904-4911.

24. Huang W., Connor E., Rosa T.D., Muir A., Schatz D., Silverstein J., Crockett S., She J.X., Maclaren N.K. Although DR3-DQB1*0201 may be associated with multiple component diseases of the autoimmune polyglandular syndromes, the human leukocyte antigen DR4-DQB1*0302 haplotype is implicated only in beta-cell autoimmunity // J. Clin. Endocrinol. Metab. - 1996. - № 81. - P. 2559-2563.

25. Holl R.W., Bohm B., Loos U., Grabert M., Heinze E., Homoki J.. Thyroid autoimmunity in children and adolescents with type 1 diabetes mellitus // Effect of age, gender and HLA type // Horm. Res. - 1999. - № 52 - P. 113-118.

26. Ikegami H., Awata T., Kawasaki E., Kobayashi T., Maruyama T., Nakanishi K., Shimada A., Amemiya S., Kawabata Y., Kurihara S., Tanaka S., Kanazawa Y., Mochizuki M., Ogihara T. The association of CTLA4 polymorphism with type 1 diabetes is concentrated in patients complicated with autoimmune thyroid disease: a multicenter collaborative study in Japan // J. Clin. Endocrinol. Metab. - 2006 - № 91. - P. 1087-1092.

27. Howson J.M., Dunger D.B., Nutland S., Stevens H., Wicker L.S., Todd J.A. A type 1 diabetes subgroup with a female bias is characterised by failure in tolerance to thyroid peroxidase at an early age and a strong association with the cytotoxic T-lymphocyte-associated antigen-4 gene // Diabetologia. - 2007. - № 50. - P. 741-746.

28. Дедов И.И., Шестакова М.В. Сахарный диабет // Руководство для врачей. - 2003. - С. 77-81.

29. Титович Е.В., Кураева Т.Л., Прокофьев С.А., Петеркова В.А., Дедов И.И. HLA-гаплотипы, аутоантитела к ƒ-клеткам: роль в прогно- зировании сахарного диабета 1 типа (результаты 11-летнего наблю- дения) // Сахарный диабет. - 2010. - № 4. - С. 12-17.

30. Sabbah E., Savola K., Ebeling T., Kulmala P., Vahasalo P., Ilonen J., Salmela P.I., Knip M. Genetic, autoimmune, and clinical characteristics of childhood- and adult-onset type 1 diabetes // Diabetes Care. - 2000. - № 23. - P. 1326-1332.

31. Morel P.A., Dorman J.S., Todd J.A., McDevitt H.O., Trucco M. Aspartic acid at position 57 of the HLA-DQ ƒ-chain protects against type I diabetes: a family study // Proc. Natl. Acad. Sci. USA. - 1988. - № 85. - P. 8111-8115.

32. Khalil I., d'Auriol L., Gobet M., Morin L., Lepage V., Deschamps I., Park M.S., Degos L., Galibert F., Hors J. A combination of HLA-DQ ƒ Asp 57-negative and HLA-DQ Arg 52 confers susceptibility to insulin-dependent diabetes mellitus // J. Clin. Invest. - 1990. - № 85. - P. 1315-1319.

33. Алексеев Л.П., Дедов И.И., Зилов А.В., Болдырева М.Н., Демидова И.Ю., Трофимов Д.Ю., Хаитов Р.М. Межпопуляционный подход в установлении ассоциированной с HLA генетической предрасположенности к инсулин-зависимому сахарному диабету // Сахарный диабет. - 1998. - № 1. - С. 19-21.

34. Сунцов Ю.И., Дедов И.И., Маслова О.В., Болотская Л.Л., Шишкина Н.С., Андрианова Е.А., Максимова В.П., Прокофьев С.А. Риск развития сахарного диабета 1 типа в популяции башкир (по данным HLA-генотипирования) // Сахарный диабет. - 2006. - № 2. - С. 2-6.

35. Caillat-Zucman S., Garchon H.J., Timsit J., Assan R., Boitard C., Djilali-Saiah I., Bougneres P., Bach J.F. Age-dependent HLA genetic heterogeneity of type 1 insulin-dependent diabetes mellitus // J. Clin. Invest. - 1992. - № 90. - P. 2242-2250.

36. Sabbah E., Savola K., Ebeling T., Kulmala P., Vahasalo P., Ilonen J., Salmela P.I., Knip M. Genetic, autoimmune, and clinical characteristics of childhood- and adult-onset type 1 diabetes // Diabetes Care. - 2000. - № 23. - P. 1326-1332.

37. Gambelunghe G., Brozzetti A., Ghaderi M., Candeloro P., Tortoioli C., Falorni A. MICA gene polymorphism in the pathogenesis of type 1 diabetes // Ann. NY Acad. Sci. - 2007. - № 1110. - P. 92-98.

38. Gambelunghe G., Brozzetti A.L., Ghaderi M., Tortoioli C., Falorni A. MICA A8: a new allele within MHC class I chain-related a transmembrane region with eight GCT repeats // Hum. Immunol. - 2006. - № 67. - P. 1005-1007.

39. Tomer Y., Davies T.F. Searching for the autoimmune thyroid disease susceptibility genes: from gene mapping to gene function // Endocr. Rev. - 2003. - 24. - P. 694-717.

40. Farid N.R. Graves' disease // In: Farid NR, ed. HLA in endocrine and metabolic disorders. London: Academic Press. - 1981. - P. 85-143.

41. Barlow A.B.T., Wheatcroft N., Watson P., Weetman A.P. Association of HLA-DQA1*0501 with Graves' disease in English Caucasian men and women // Clin. Endocrinol. (Oxf). - 1996. - № 44. - P. 73-77.

42. Yanagawa T., Mangklabruks A., Chang Y.B., Okamoto Y., Fisfalen M-E., Curran P.G., DeGroot L.J. Human histocompatibility leukocyte antigen- DQA1*0501 allele associated with genetic susceptibility to Graves' disease in a Caucasian population // J. Clin. Endocrinol. Metab. - 1993. - № 76. - P. 1569-1574.

43. Дедов И.И., Трошина Е.А., Антонова С.С., Александрова Г.Ф., Зилов А.В. Аутоиммунные заболевания щитовидной железы: со- стояние проблемы // Проблемы эндокринологии. - 2002. - Т. 48. - № 2. - С. 6-13.

44. Ban Y., Davies T.F., Greenberg D.A., Concepcion E.S., Osman R., Oashi T., Tomer Y. Arginine at position 74 of the HLA-DRb1 chain is associated with Graves' disease // Genes Immun. - 2004. - № 5. - P. 203-208.

45. Farid N.R., Sampson L., Moens H., Barnard J.M. The association of goitrous autoimmune thyroiditis with HLA-DR5 // Tissue Antigens. - 1981. - 17. - P. 265-268.

46. Moens H., Farid N.R., Sampson L., Noel E.P., Barnard J.M. Hashimoto's thyroiditis is associated with HLA-DRw3 // N. Engl. J. Med. - 1978. - № 299. - P. 133-134.

47. Tandon N., Zhang L., Weetman A.P. HLA associations with Hashimoto's thyroiditis // Clin. Endocrinol. (Oxf). - 1991. - № 34. - P. 383-386.

48. Ban Y., Davies T.F., Greenberg D.A., Concepcion E.S., Tomer Y. The influence of human leucocyte antigen (HLA) genes on autoimmune thyroid disease (AITD): results of studies in HLA-DR3 positive AITD families // Clin. Endocrinol. (Oxf). - 2002. - № 57. - P. 81-88.

49. Petrone A., Giorgi G., Mesturino C.A., Capizzi M., Cascino I., Nistico L., Osborn J., Di Mario U., Buzzetti R. Association of DRB1*04-DQB1*0301 haplotype and lack of association of two polymorphic sites at CTLA-4 gene with Hashimoto's thyroiditis in an Italian population // Thyroid. - 2001. - № 11. - P. 171-175.

50. Djilali-Saiah I., Bertin E., Larger E., Timsit J., Assan R., Boitard C., Bach J.F., Caillat-Zucman S. Major histocompatibility class II genes polymorphism in insulin dependent diabetes mellitus with or without associated thyroid autoimmunity // Hum. Immunol. - 1998. - № 59. - P. 176-182.

51. Awata T., Katsuren E., Matsumoto C., Nagayama I., Uchigata Y., Kuzuya N., Kanazawa Y. Absence of shared HLA class II (DR, DQ)-linked genetic basis between IDDM and autoimmune thyroid disease in Japanese // Diabetes Care. - 1995. - № 18. - P. 582-583.

52. Allen D.B., MacDonald M.J., Gottschall J.L., Hunter J.B. Autoimmune thyroid phenomena are not evidence for human lymphocyte antigen-genetic heterogeneity in insulin-dependent diabetes // Am J. Med. Genet. - 1989. - № 33. - P. 405-408.

53. Holl R.W., Bohm B., Loos U., Grabert M., Heinze E., Homoki J. Thyroid autoimmunity in children and adolescents with type 1 diabetes mellitus. Effect of age, gender and HLA type // Horm. Res. - 1999. - № 52. - P. 113-118.

54. Wallaschofski H., Meyer A., Tuschy U., Lohmann T. HLA-DQA1*0301- associated susceptibility for autoimmune polyglandular syndrome type II and III // Horm. Metab. Res. - 2003. - № 35. - P. 120-124.

55. Golden B., Levin L., Ban Y., Concepcion E., Greenberg D.A., Tomer Y. Genetic analysis of families with autoimmune diabetes and thyroiditis: evidence for common and unique genes // J. Clin. Endocrinol. Metab. - 2005. - № 90. - P. 4904-4911.

56. Payami H., Joe S., Thomson G. Autoimmune thyroid disease in type 1 diabetes // Genet. Epidemiol. - 1989. - № 6. - P. 137-141.

57. Santamaria P., Barbosa J.J., Lindstrom A.L., Lemke T.A., Goetz F.C., Rich S.S. HLA-DQB1-associated susceptibility that distinguishes Hashimoto's thyroiditis from Graves' disease in type I diabetic patients // J. Clin. Endocrinol. Metab. - 1994. - № 78. - P. 878-883.

58. Huang W., Connor E., Rosa T.D., Muir A., Schatz D., Silverstein J., Crockett S., She J.X., Maclaren N.K. Although DR3-DQB1*0201 may be associated with multiple component diseases of the autoimmune polyglandular syndromes, the human leukocyte antigen DR4-DQB1*0302 haplotype is implicated only in ƒ-cell autoimmunity // J. Clin. Endocrinol. Metab. - 1996. - № 81. - P. 2559-2563.

59. Chikuba N., Akazawa S., Yamaguchi Y., Kawasaki E., Takino H., Yoshimoto M., Ohe N., Yamashita K., Yano A., Nagataki S. Immunogenetic heterogeneity in type 1 (insulin-dependent) diabetes among Japanese-class II antigen and autoimmune thyroid disease // Diabetes Res. Clin. Pract. - 1995. - № 27. - P. 31-37.

60. Hashimoto K., Maruyama H., Nishiyama M., Asaba K., Ikeda Y., Takao T., Iwasaki Y., Kumon Y., Suehiro T., Tanimoto N., Mizobuchi M., Nakamura T. Susceptibility alleles and haplotypes of human leukocyte antigen DRB1, DQA1, and DQB1 in autoimmune polyglandular syndrome type III in Japanese population // Horm. Res. - 2005. - № 64. - P. 253-260.

61. Kim E.Y., Shin C.H., Yang S.W. Polymorphisms of HLA class II predispose children and adolescents with type 1 diabetes mellitus to autoimmune thyroid disease // Autoimmunity. - 2003. - № 36. - P. 177-181.

62. Chuang L.M., Wu H.P., Chang C.C., Tsai W.Y., Chang H.M., Tai T.Y., Lin B.J. HLA DRB1/DQA1/DQB1 haplotype determines thyroid autoimmunity in patients with insulin-dependent diabetes mellitus // Clin. Endocrinol. (Oxf). - 1996. - № 45. - P. 631-636.

63. Dorman J., Kramer M.K., O'Lear L.A., Burke J.P., McCanlies E., Mc-Carthy B.J., Trucco M., Swan J.S., Steenkiste A., Koehler A.N., Foley T.P. Molecular epidemiology of autoimmune thyroid disease // Gac. Med. Mex. - 1997. - № 133(Suppl. 1). - P. 97-103.

64. Eisenbarth G.S., Gottlieb P.A. Autoimmune polyendocrine syndromes // N. Engl. J. Med. - 2004. - № 350. - P. 2068-2079.

65. Dittmar M., Ide M., Wurm M., Kahaly G.J. Early onset of polyglandular failure is associated with HLA-DRB1*03 // Eur. J. Endocrinol. - 2008. - № 159. - P 55-60.

66. Weetman A.P., Jenkins R.C. Disease associations with autoimmune thyroid disease // Thyroid. - 2002. - № 12. - P. 977-988.

67. Абрамов Д.Д., Дедов И.И., Трофимов Д.Ю., Болдырева М.Н., Кураева Т.Л., Алексеев Л.П. Полиморфизм гена CTLA4 (49А/G) в русской популяции у больных сахарным диабетом 1 типа и здоровых доно- ров // Сахарный диабет. - 2007. - № 3. - С. 2-3.

68. Donner H., Rau H., Walfish P.G., Braun J., Siegmund T., Finke R., Herwig J., Usadel K.H., Badenhoop K. CTLA4 alanine-17 confers genetic susceptibility to Graves' disease and to type 1 diabetes mellitus // J. Clin. Endocrinol. Metab. - 1997. - № 82. - P. 143-146.

69. Cinek O., Drevinek P., Sumnik Z., Bendlova B., Kolouskova S., Snajderova M., Vavrinec J. The CTLA4 +49 A/G dimorphism is not associated with type 1 diabetes in Czech children // Eur. J. Immunogenet. - 2002. - № 29. - P. 219-222.

70. Дедов И.И., Колесникова Л.И., Иванова О.Н., Бардымова Т.П. Полиморфизм генов HLA класса II и CTLA-4 здоровых бурят и больных сахарным диабетом 1 типа в Бурятской Республике // Сахарный диабет. - 2006. - № 1. - С. 2-8.

71. Yanagawa T., Hidaka Y., Guimaraes V., Soliman M., DeGroot L.J. CTLA-4 gene polymorphism associated with Graves' disease in a Caucasian population // J. Clin. Endocrinol. Metab. - 1995. - № 80. - P. 41-45.

72. Ueda H., Howson J.M., Esposito L., Heward J., Snook H., Chamberlain G., Rainbow D.B., Hunter K.M., Smith A.N., Di Genova G., Herr M.H., Dahlman I., Payne F., Smyth D., Lowe C., Twells R.C., Howlett S., Healy B., Nutland S., Rance H.E., Everett V., Smink L.J., Lam A.C., Cordell H.J., Walker N.M., Bordin C., Hulme J., Motzo C., Cucca F., Hess J.F., Metzker M.L., Rogers J., Gregory S., Allahabadia A., Nithiyananthan R., Tuomilehto-Wolf E., Tuomilehto J., Bingley P., Gillespie K.M., Undlien D.E., Ronningen K.S., Guja C., Ionescu-Tirgoviste C., Savage D.A., Maxwell A.P., Carson D.J., Patterson C.C., Franklyn J.A., Clayton D.G., Peterson L.B., Wicker L.S., Todd J.A., Gough S.C. Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease // Nature. - 2003. - № 423. - P. 506-511.

73. Sale M.M., Akamizu T., Howard T.D., Yokota T., Nakao K., Mori T., Iwasaki H., Rich S.S., Jennings-Gee J.E., Yamada M., Bowden D.W. Association of autoimmune thyroid disease with a microsatellite marker for the thyrotropin receptor gene and CTLA-4 in a Japanese population // Proc. Assoc. Am Physicians. - 1997. - № 109. - P. 453-461.

74. Villanueva R.B., Inzerillo A.M., Tomer Y., Barbesino G., Meltzer M., Concepcion E.S., Greenberg D.A., Maclaren N., Sun Z.S., Zhang D.M., Tucci S., Davies T.F. Limited genetic susceptibility to severe Graves' ophthalmopathy: no role for CTLA-4 and evidence for an environmental etiology // Thyroid. - 2000. - № 10. - P. 791-798.

75. Holmberg D., Cilio C.M., Lundholm M., Motta V. CTLA-4 (CD152) and its involvement in autoimmune disease // Autoimmunity. - 2005. - № 38. - P. 225-233.

76. Lee S.Y., Lee Y.H., Shin C., Shim J.J., Kang K.H., Yoo S.H., In K.H. Association of asthma severity and bronchial hyperresponsiveness with a polymorphism in the cytotoxic T-lymphocyte antigen-4 gene // Chest. - 2002. - № 122. - P. 171-176.

77. Donner H., Braun J., Seidl C., Rau H., Finke R., Ventz M., Walfish P.G., Usadel K.H., Badenhoop K. Codon 17 polymorphism of the cytotoxic T lymphocyte antigen 4 gene in Hashimoto's thyroiditis and Addison's disease // J. Clin. Endocrinol. Metab. - 1997. - № 82. - P. 4130-4132.

78. Huang D., Liu L., Noren K., Xia S.Q., Trifunovic J., Pirskanen R., Lefvert A.K. Genetic association of Ctla-4 to myasthenia gravis with thymoma // J. Neuroimmunol. - 1998. - № 88. - P. 192-198.

79. Downie-Doyle S., Bayat N., Rischmueller M., Lester S. Influence of CTLA4 haplotypes on susceptibility and some extraglandular manifestations in primary Sjogren's syndrome // Arthritis Rheum. - 2006. - № 54. - P. 2434-2440.

80. Lee Y.H., Harley J.B., Nath S.K. CTLA-4 polymorphisms and systemic lupus erythematosus (SLE): a meta-analysis // Hum. Genet. - 2005. - № 116. - P. 361-367.

81. Almasi S., Erfani N., Mojtahedi Z., Rajaee A., Ghaderi A. Association of CTLA-4 gene promoter polymorphisms with systemic sclerosis in Iranian population Genes Immun 7:401-406.

82. Jiang Y, Xia B, Jiang L, Lv M, Guo Q, Chen M, Li J, Xia HH, Wong BC 2006 Association of CTLA-4 gene microsatellite polymorphism with ulcerative colitis in Chinese patients // Inflamm. Bowel Dis. - 2006. - № 12. - P. 369-373.

83. Kavvoura F.K., Akamizu T., Awata T., Ban Y., Chistiakov D.A., Frydecka I., Ghaderi A., Gough S.C., Hiromatsu Y., Ploski R., Wang P.W., Ban Y., Bednarczuk T., Chistiakova E.I., Chojm M., Heward J.M., Hiratani H., Juo S.H., Karabon L., Katayama S., Kurihara S., Liu R.T., Miyake I., Omrani G.H., Pawlak E., Taniyama M., Tozaki T., Ioannidis J.P. Cytotoxic T-lymphocyte associated antigen 4 gene polymorphisms and autoimmune thyroid disease: a meta-analysis // J. Clin. Endocrinol. Metab. - 2007. - 92. - P. 3162-3170.

84. Kemp E.H., Ajjan R.A., Waterman E.A., Gawkrodger D.J., Cork M.J., Watson P.F., Weetman A.P. Analysis of a microsatellite polymorphism of the cytotoxic T-lymphocyte antigen-4 gene in patients with vitiligo // Br. J. Dermatol. - 1999. - № 140. - P. 73-78.

85. Takara M., Komiya I., Kinjo Y., Tomoyose T., Yamashiro S., Akamine H., Masuda M., Takasu N. Association of CTLA-4 gene A/G polymorphism in Japanese type 1 diabetic patients with younger age of onset and autoimmune thyroid disease // Diabetes Care. - 2000. - № 23. - P. 975-978.

86. Howson J.M., Dunger D.B., Nutland S., Stevens H., Wicker L.S., Todd J.A. A type 1 diabetes subgroup with a female bias is characterised by failure in tolerance to thyroid peroxidase at an early age and a strong association with the cytotoxic T-lymphocyte-associated antigen-4 gene // Diabetologia. - 2007. - № 50. - P. 741-746.

87. Ikegami H., Awata T., Kawasaki E., Kobayashi T., Maruyama T., Nakanishi K., Shimada A., Amemiya S., Kawabata Y., Kurihara S., Tanaka S., Kanazawa Y., Mochizuki M., Ogihara T. The association of CTLA4 polymorphism with type 1 diabetes is concentrated in patients complicated with autoimmune thyroid disease: a multicenter collaborative study in Japan // J. Clin. Endocrinol. Metab. - 2006. - № 91. - P. 1087-1092.

88. Golden B., Levin L., Ban Y., Concepcion E., Greenberg D.A., Tomer Y. Genetic analysis of families with autoimmune diabetes and thyroiditis: evidence for common and unique genes // J. Clin. Endocrinol. Metab. - 2005. - № 90. - P. 4904-4911.

89. Villano M.J.B., Huber A.K., Greenberg D.A., Golden B.K., Concepcion E., and Tomer Y. Autoimmune thyroiditis and diabetes: dissecting the joint genetic susceptibility in a large cohort of multiplex families // J. Clin. Endocrinol. Metab. - 2009. - № 94. - P. 1458-1466.

90. Tomer Y., Menconi F. Type 1 diabetes and autoimmune thyroiditis: the genetic connection // Thyroid. - 2009. - № 19. - P. 99-102.

91. Bottini N., Musumeci L., Alonso A., Rahmouni S., Nika K., Rostamkhani M., MacMurray J., Meloni G.F., Lucarelli P., Pellecchia M., Eisenbarth G.S., Comings D., Mustelin T. A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes // Nat. Genet. - 2004. - № 36. - P. 337-338.

92. Smyth D., Cooper J.D., Collins J.E., Heward J.M., Franklyn J.A., Howson J.M., Vella A., Nutland S., Rance H.E., Maier L., Barratt B.J., Guja C., Ionescu-Tirgoviste C., Savage D.A., Dunger D.B., Widmer B., Strachan D.P., Ring S.M., Walker N., Clayton D.G., Twells R.C., Gough S.C., Todd J.A. Replication of an association between the lymphoid tyrosine phosphatase locus (LYP/PTPN22) with type 1 diabetes, and evidence for its role as a general autoimmunity locus // Diabetes. - 2004. - № 53. - P. 3020-3023.

93. Onengut-Gumuscu S., Ewens K.G., Spielman R.S., Concannon P. A functional polymorphism (1858C/T) in the PTPN22 gene is linked and associated with type I diabetes in multiplex families // Genes Immun. - 2004. - № 5. - P. 678-680.

94. Qu H., Tessier M.C., Hudson T.J., Polychronakos C. Confirmation of the association of the R620W polymorphism in the protein tyrosine phosphatase PTPN22 with type 1 diabetes in a family-based study // J. Med. Genet. - 2005. - № 42. - P. 266-270.

95. Zoledziewska M., Perra C., Orru V., Moi L., Frongia P., Congia M., Bottini N., Cucca F. Further evidence of a primary, causal association of the PTPN22 620W variant with type 1 diabetes // Diabetes. - 2008. - № 57. - P. 229-234.

96. Bottini N., Vang T., Cucca F., Mustelin T. Role of PTPN22 in type 1 diabetes and other autoimmune diseases // Semin. Immunol. - 2006. - № 18. - P. 207-213.

97. Steck A.K., Liu S.Y., McFann K., Barriga K.J., Babu S.R., Eisenbarth G.S., Rewers M.J., She J.X. Association of the PTPN22/LYP gene with type 1 diabetes // Pediatr. Diabetes. - 2006. - № 7. - P. 274-278.

98. Fedetz M., Matesanz F., Caro-Maldonado A., Smirnov II., Chvorostinka V.N., Moiseenko T.A., Alcina A. The 1858T PTPN22 gene variant contributes to a genetic risk of type 1 diabetes in a Ukrainian population // Tissue Antigens. - 2006. - № 67. - P. 430-433.

99. Nielsen C., Hansen D., Husby S., Lillevang S.T. Sex-specific association of the human PTPN22 1858T-allele with type 1 diabetes // Int. J. Immunogenet. - 2007. - № 34. - P. 469-473.

100. Velaga M.R., Wilson V., Jennings C.E., Owen C.J., Herington S., Donaldson P.T., Ball S.G., James R.A., Quinton R., Perros P., Pearce S.H. The codon 620 tryptophan allele of the lymphoid tyrosine phosphatase (LYP) gene is a major determinant of Graves' disease // J. Clin. Endocrinol. Metab. - 2004. - № 89. - P. 5862-5865.

101. Skorka A., Bednarczuk T., Bar-Andziak E., Nauman J., Ploski R. Lymphoid tyrosine phosphatase (PTPN22/LYP) variant and Graves' disease in a Polish population: association and gene dose-dependent correlation with age of onset // Clin. Endocrinol. (Oxf) - 2005. - № 62. - P. 679-682.

102. Criswell L.A., Pfeiffer K.A., Lum R.F., Gonzales B., Novitzke J., Kern M., Moser K.L., Begovich A.B., Carlton V.E., Li W., Lee A.T., Ortmann W., Behrens T.W., Gregersen P.K. Analysis of families in the multiple autoimmune disease genetics consortium (MADGC) collection: the PTPN22 620W allele associates with multiple autoimmune phenotypes // Am. J. Hum. Genet. - 2005. - № 76. - P. 561-571.

103. Kahles H., Ramos-Lopez E., Lange B., Zwermann O., Reincke M., Badenhoop K. Sex-specific association of PTPN22 1858T with type 1 diabetes but not with Hashimoto's thyroiditis or Addison's disease in the German population // Eur. J. Endocrinol. - 2005. - № 153. - P. 895-899.

104. Ban Y., Tozaki T., Taniyama M., Tomita M., Ban Y. The codon 620 single nucleotide polymorphism of the protein tyrosine phosphatase-22 gene does not contribute to autoimmune thyroid disease susceptibility in the Japanese // Thyroid. - 2005. - № 15. - P. 1115-1118.

105. Vang T., Miletic A.V., Bottini N., Mustelin T. Protein tyrosine phosphatase PTPN22 in human autoimmunity // Autoimmunity. - 2007. - № 40. - P. 453-461.

106. Begovich A.B., Carlton V.E., Honigberg L.A., Schrodi S.J., Chokkalingam A.P., Alexander H.C., Ardlie K.G., Huang Q., Smith A.M., Spoerke J.M., Conn M.T., Chang M., Chang S.Y., Saiki R.K., Catanese J.J., Leong D.U., Garcia V.E., McAllister L.B., Jeffery D.A., Lee A.T., Batliwalla F., Remmers E., Criswell L.A., Seldin M.F., Kastner D.L., Amos C.I., Sninsky J.J., Gregersen P.K. A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis // Am. J. Hum. Genet. - 2004. - № 75. - P. 330-337.

107. Wu H., Cantor R.M., Graham D.S., Lingren C.M., Farwell L., Jager P.L., Bottini N., Grossman J.M., Wallace D.J., Hahn B.H., Julkunen H., Hebert L.A., Rovin B.H., Birmingham D.J., Rioux J.D., Yu C.Y., Kere J., Vyse T.J., Tsao B.P. Association analysis of the R620W polymorphism of protein tyrosine phosphatase PTPN22 in systemic lupus erythematosus families: increased T allele frequency in systemic lupus erythematosus patients with autoimmune thyroid disease // Arthritis Rheum. - 2005. - № 52. - P. 2396-2402.

108. Bottini N., Vang T., Cucca F., Mustelin T. Role of PTPN22 in type 1 diabetes and other autoimmune diseases // Semin. Immunol. - 2006. - № 18. - P. 207-213.

109. Jacobson E.M., Tomer Y. The CD40, CTLA-4, thyroglobulin, TSH receptor, and PTPN22 gene quintet and its contribution to thyroid autoimmunity: back to the future // J. Autoimmun. - 2007. - № 28. - P. 85-98.

110. Dultz G., Matheis N., Dittmar M., Rohrig B., Bender K., Kahaly G. The protein tyrosine phosphatase non-receptor type 22 C1858T polymorphism is a joint susceptibility locus for immunothyroiditis and autoimmune diabetes // Thyroid in this issue. - 2008.

111. Kahles H., Ramos-Lopez E., Lange B., Zwermann O., Reincke M., Badenhoop K. Sex-specific association of PTPN22 1858T with type 1 diabetes but not with Hashimoto's thyroiditis or Addison's disease in the German population // Eur. J. Endocrinol. - 2005. - № 153. - P. 895-899.

112. Vang T., Miletic A.V., Bottini N., Mustelin T. Protein tyrosine phosphatase PTPN22 in human autoimmunity // Autoimmunity. - 2007. - № 40. - P. 453-461.

113. Saccucci P., Del Duca E., Rapini N., Verrotti A., Piccinini S., Maccari A ., Canu G., Angelini F., Fontana L., Giannini C., Chiarelli F., Manca Bit tMi .L., Bottini N. Association between PTPN22 C1858T and type 1 diabetes: a replication in continental Italy // Tissue Antigens. - 2008. - № 71. - P. 234-237.

114. Villano M.J.B., Greenberg D.A., Golden B., Concepcion E., Tomer Y. Mapping joint susceptibility loci for autoimmune thyroid disease and type 1 diabetes using whole genome screening in a cohort of multiplex families // Program of the 89th Annual Meeting of The Endocrine Society, Toronto, Canada, June 2007.

115. Pugliese A. Genetics of type 1 diabetes // Endocrinol. Metab. Clin. North Am. - 2004. - № 33. - P. 1-16.

116. Bennett S.T., Wilson A.J., Cucca F., Nerup J., Pociot F., McKinney P.A., Barnett A.H., Bain S.C., Todd J.A. IDDM2-VNTR-encoded susceptibility to type 1 diabetes: dominant protection and parental transmission of alleles of the insulin gene-linked minisatellite locus // J. Autoimmun. - 1996. - № 9. - P. 415-421.

117. Pugliese A., Zeller M., Fernandez Jr. A., Zalcberg L.J., Bartlett R.J., Ricordi C., Pietropaolo M., Eisenbarth G.S., Bennett S.T., Patel D.D. The insulin gene is transcribed in the human thymus and transcription levels correlated with allelic variation at the INS VNTR-IDDM2 susceptibility locus for type 1 diabetes // Nat. Genet. - 1997. - № 15. - P. 293-297.

118. Vafiadis P., Bennett S.T., Todd J.A., Nadeau J., Grabs R., Goodyer C.G., Wickramasinghe S., Colle E., Polychronakos C. Insulin expression in human thymus is modulated by INS VNTR alleles at the IDDM2 locus // Nat. Genet. - 1997. - № 15. - P. 289-292.

119. Pugliese A. Genetics of type 1 diabetes // Endocrinol. Metab. Clin. North Am. - 2004. - № 33. - P. 1-16.

120. Banchereau J., Bazan F., Blanchard D., Briere F., Galizzi J.P., van Kooten C., Liu Y.J., Rousset F., Saeland S. The CD40 antigen and its ligand // Annu Rev. Immunol. - 1994. - № 12. - P. 881-922.

121. Armitage R.J., Macduff B.M., Spriggs M.K., Fanslow W.C. Human B cell proliferation and Ig secretion induced by recombinant CD40 ligand are modulated by soluble cytokines // J. Immunol. - 1993. - № 150. - P. 3671-3680.

122. Arpin C., Dechanet J., van Kooten C., Merville P., Grouard G., Briere F., Banchereau J., Liu Y.J. Generation of memory B cells and plasma cells in vitro // Science. - 1995. - № 268. - P. 720-722.

123. Tomer Y., Concepcion E., Greenberg D.A. A C/T single nucleotide polymorphism in the region of the CD40 gene is associated with Graves' disease // Thyroid. - 2002. - № 12. - P. 1129-1135.

124. Kozak M. Structural features in eukaryotic mRNAs that modulate the initiation of translation // J. Biol. Chem. - 1991. - № 266. - P. 19867-19870.

125. Jacobson E.M., Concepcion E., Oashi T., Tomer Y. A Graves' diseaseassociated Kozak sequence single-nucleotide polymorphism enhances the efficiency of CD40 gene translation: a case for translational pathophysiology // Endocrinology. - 2005. - № 146. - P. 2684-2691.

126. Park J.H., Chang H.S., Park C.S., Jang A.S., Park B.L., Rhim T.Y., Uh S.T., Kim Y.H., Chung I.Y., Shin H.D. Association analysis of CD40 polymorphisms with asthma and the level of serum total IgE // Am. J. Respir. Crit. Care Med. - 2007. - № 175. - P. 775-782.

127. Tomer Y. Anti-thyroglobulin autoantibodies in autoimmune thyroid diseases: cross-reactive or pathogenic? // Clin. Immunol. Immunopathol. - 1997. - № 82. - P. 3-11.

128. Charreire J. Immune mechanisms in autoimmune thyroiditis // Adv. Immunol. - 1989. - № 46. - P. 263-334.

129. Tomer Y., Greenberg D.A., Concepcion E., Ban Y., Davies T.F. Thyroglobulin is a thyroid specific gene for the familial autoimmune thyroid diseases // J. Clin. Endocrinol. Metab. - 2002. - № 87. - P. 404-407.

130. Ban Y., Greenberg D.A., Concepcion E., Skrabanek L., Villanueva R., Tomer Y. Amino acid substitutions in the thyroglobulin gene are associated with susceptibility to human and murine autoimmune thyroid disease // Proc. Natl. Acad. Sci. USA. - 2003. - № 100. - P. 15119-15124.

131. Ban Y., Tozaki T., Taniyama M., Tomita M., Ban Y. Association of a thyroglobulin gene polymorphism with Hashimoto's thyroiditis in the Japanese population // Clin. Endocrinol. (Oxf) - 2004. - № 61. - P. 263-268.


Review

For citations:


Repina E.A. The role of common genetic markers in susceptibility to type 1 diabetes and autoimmune thyroid diseases. Diabetes mellitus. 2011;14(2):23-31. (In Russ.) https://doi.org/10.14341/2072-0351-5630

Views: 4678


ISSN 2072-0351 (Print)
ISSN 2072-0378 (Online)