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Genetic factors of predisposition to autoimmune thyropathies

https://doi.org/10.25789/YMJ.2018.62.32

Abstract

The article presents a review of the literature about the genetic factors of predisposition to autoimmune to thyroid disorders, the main of which are diffuse toxic goiter and autoimmune thyroiditis. Studies of recent years have made it possible to establish that genetic factors make a significant contribution to the development of the autoimmune process in autoimmune to thyroid disorders.

About the Authors

T. K. Sunkhalyrova
YNC CMP
Russian Federation

Sunkhalyrova Tatyana Konstantinovna - candidate of science

Yakutsk



V. V. Dodokhov
YNC CMP
Russian Federation

Dodokhov Vladimir Vladimirovich - Senior Researcher, Candidate of Biological Sciences, Senior Lecturer

Yakutsk



N. A. Solov’eva
YNC CMP
Russian Federation

Solovyeva Natalia Alekseevna - Candidate of Medical Sciences, Senior Researcher

Yakutsk



N. I. Pavlova
YNC CMP
Russian Federation

Pavlova Nadezhda Ivanovna - Candidate of Biological Sciences, Leading Researcher, Head of the laboratory

Yakutsk



N. P. Filippova
YNC CMP
Russian Federation

Filippova Natalia Pavlovna - candidate of biological sciences,
associate professor, Researcher

Yakutsk



L. M. Neustroeva
YNC CMP
Russian Federation

Neustroeva Lena Mikhailovna - candidate of technical sciences

Yakutsk



M. A. Varlamova
YNC CMP
Russian Federation

Varlamova Marina Alekseevna - Researcher

Yakutsk



A. T. D’yakonova
YNC CMP
Russian Federation

Dyakonova Alexandra Timofeevna – Junior Researcher

Yakutsk



Kh. A. Kurtanov
YNC CMP
Russian Federation

Kurtanov Khariton Alekseevich - Candidate of Medical Sciences, Chief Scientific Officer - Head of the Department of Molecular Genetics

Yakutsk



References

1. Irmyakova A.R. et al. (2012). Assotsiatsiya polimorfnykh variantov genov CYP1A1 i CYP1A2 s razvitiem reproduktivnoj i tireoidnoj patologii u zhenschin-rabotnits neftekhimicheskikh proizvodstv [Association of polymorphic variants of CYP1A1 and CYP1A2 genes with development of reproductive and thyroid pathology in women workers in petrochemical industry] Meditsina truda i promyshlennaya ekologiya. Vol. 5, p. 41- 48.

2. Balabolkin M.I. (1998) Endokrinologiya [Endocrinology] Universum pablishing. P. 416.

3. Dedov I.I. Mel’nichenko G.A., Fadeev V.F. (2007) Endokrinologiya [Endocrinology] GEOTAR-Media. P. 432.

4. Zemskova E.A. (2017) K voprosu o vzaimosvyazi zabolevanij zheludka i schitovidnoj zhelezy [To the question of the relationship of diseases of the stomach and thyroid gland] Nauchnyj dialog: Voprosy meditsiny : materialy VIII mezhdunarodnoj nauch.-prakt. konf. – SPb. p. 12-17.

5. Zemskova E.A. et al. (2012) Izbytochnyj rost Eubacteriumlentum v pristenochnoj kishechnoj mikroflore kak faktor riska razvitiya autoimmunnogo tireoidita u detej [Excess growth of Eubacteriumlentum in the parietal intestinal microflora as a risk factor for the development of autoimmune thyroiditis in children] Vestnik Severo-Zapadnogo gosudarstvennogo meditsinskogo universiteta im. I.I. Mechnikova. vol. 4 (4), p. 73-77.

6. Kurtanov Kh.A. et al. (2018) Issledovanie gena adiponutrina PNPLA3 u korennykh zhitelej Respubliki Sakha (YAkutiya), stradayuschikh sakharnym diabetom 2 tipa [Study of the adiponuclear gene PNPLA3 in the indigenous inhabitants of the Republic of Sakha (Yakutia), suffering from type 2 diabetes mellitus] YAkutskij meditsinskij zhurnal. Vol. 1 (61), p. 11 – 14.

7. Shimotyuk E.M., Osipova E.A., Surzhikova G.S. (2003) K voprosu o diagnostike AIT [On the diagnosis of autoimmune thyroiditis] Problemy meditsiny i biologii : materialy mezhregional’noj nauch.-prakt. Konf. molodykh uchenykh, posvyaschennoj 60-letiyu Kemerovskoj oblasti - Kemerovo, p. 61.

8. Kandror V.I. (2001) Molekulyarno-geneticheskie aspekty tireoidnoj patologii [Molecular-genetic aspects of thyroid pathology] Problemy endokrinologii. Vol. 5, p. 3–10.

9. Kilejnikov D.V., Ivanov A.G. (2012) Rasprostranennost’ boleznej schitovidnoj zhelezy v Tverskoj oblasti [Prevalence of thyroid gland diseases in the Tver region] Problemy sotsial’noj gigieny, zdravookhraneniya i istorii meditsiny. Vol. 3, p. 12–14.

10. Kochetova O.V., Gajnullina M.K., Viktorova T.V. (2014) Polimorfizm genov DIO2, TPO, CYP1A1 i CYP1A2 u zhenschin s zabolevaniyami schitovidnoj zhelezy [Polymorphism of the genes DIO2, TPO, CYP1A1 and CYP1A2 in women with thyroid disease] Gigiena i sanitariya. Vol. 3, p. 52-56

11. Mel’nichenko G.A. (2002) Kommentarii k klinicheskim rekomendatsiyam po diagnostike i lecheniyu autoimmunnogo tireoidita [Comments on the clinical recommendations for the diagnosis and treatment of autoimmune thyroiditis] Zhurnal Tironet. Vol. 5-6.

12. Osipov G.A., Novikova V.P. (2013) Metodika mass-spektrometrii mikrobnykh markerov kak sposob otsenki pristenochnoj kishechnoj mikrobioty pri zabolevaniyakh organov pischevareniya [The technique of mass spectrometry of microbial markers as a method for assessing the parietal intestinal microbiota in diseases of the digestive system] SPb. p.96.

13. Molostvov G.S., Danilova L.I. (1997) Immunologicheskie aspekty patogeneza autoimmunnogo tireoidita [Immunological aspects of the pathogenesis of autoimmune thyroiditis] Med. novosti. Vol. 4, p. 3 -10.

14. Styazhkina S.N. et al. (2015) Psikhoemotsional’noe sostoyanie patsientov s zabolevaniyami schitovidnoj zhelezy v blizhajshem i otdalennom periodakh [Psychoemotional state of patients with thyroid diseases in the near and distant periods] Sovremennye problemy nauki i obrazovaniya. Vol. 2, p. 128.

15. Sivtseva T. P. (2010) Patomorfologicheskij i immunogistokhimicheskij analiz schitovidnoj zhelezy plodov i novorozhdennykh v usloviyakh zobnoj endemii v Respublike Sakha (YAkutiya) [Pathomorphological and immunohistochemical analysis of the thyroid gland of fetuses and newborns in conditions of goitre endemia in the Republic of Sakha (Yakutia)]: diss. … kand. med. nauk : spets. 140302. - Novosibirsk, p. 126.

16. Smirnov V.V., Makazan N.V. (2010) Sindrom tireotoksikoza: prichiny, diagnostika, lechenie [Syndrome of thyrotoxicosis: causes, diagnosis, treatment] Lechaschij vrach. Vol. 5, p. 71-79.

17. Fadeev V. V. (2002) Diagnostika i lechenie toksicheskogo zoba [Diagnosis and treatment of toxic goiter] Russkij meditsinskij zhurnal. Vol. 11 (155), p. 513 — 516.

18. Shigeev V.B. SHigeev S.V., Koludarova E.M. (2004) Kholodovaya smert [Cold death] Novosti. p. 183.

19. Ajjan RA, Weetman AP. (2015) The pathogenesis of Hashimoto’s thyroiditis: further developments in our understanding. HormMetab Res. Vol. 47, p. 702–710.

20. Arbelle J.E., Porath A. (1999). Clinical Endocrinology. Vol. 51, p. 11 – 18.

21. Georgopoulos NA, Sykiotis GP, Sgourou A, et al. (2003) Autonomously functioning thyroid nodules in a former iodine-deficient area commonly harbor gain-offunction mutations in the thyrotropin signaling pathway. Eur J Endocrinol. Vol. 149, p. 287-292.

22. Duprez L, Parma J, Costagliola S, et al. (1997) Constitutive activation of the TSH receptor by spontaneous mutations affecting the N-terminal extracellular domain. FEBS Lett. Vol. 409, p. 469-474.

23. Davies TF., Amino N. (1993) A new classification for human autoimmune thyroid disease. Thyroid. Winter. Vol. 3(4), p. 331-333.

24. Trulzsch B, Krohn K, Wonerow P, et al. (2001) Detection of thyroidstimulating hormone receptor and Gsalpha mutation in 75 toxic thyroid nodules by denaturing gradient gel electrophoresis. J MolMed. Vol. 78, p. 684-691.

25. Trulzsch B, Krohn K, Wonerow P, Paschke R. (1999) DGGE is more sensitive for the detection of somatic point mutations than direct sequencing. Biotechniques. Vol. 27, p.266-268

26. Parma J, Duprez L, Van Sande J, et al. (1997) Diversity and prevalence of somatic mutations in the thyrotropin receptor and Gs alpha genes as a cause of toxic thyroid adenomas. J ClinEndocrinolMetab. Vol. 82 p. 2695- 2701.

27. Landis C.A., Masters SB, Spada A, et al. (1989) GTPase inhibiting mutations activate the alpha chain of Gs and stimulate adenylyl cyclase in human pituitary tumours. Nature. Vol. 340, p. 692-696.

28. Hegedus L. et al. (2003). Management of simple nodular goiter: current status and future perspectives. Endocr. Rev. Vol. 24, p. 102–132.

29. Krohn K., Wohlgemuth S., Gerber H. et al. (2000) Hot microscopic areas of iodine-deficient euthyroidgoitres contain constitutively activating TSH receptor mutations J. Pathol. Vol. 192, p. 37–42. 6.

30. Tonacchera M, Chiovato L, Pinchera A, et al. (1998) Hyperfunctioning thyroid nodules in toxic multinodular goiter share activating thyrotropin receptor mutations with solitary toxic adenoma. J ClinEndocrinolMetab. Vol. 83, p. 492-498.

31. Paschke R, Tonacchera M, Van Sande J, et al. (1994) Identification and functional characterization of two new somatic mutations causing constitutive activation of the thyrotropin receptor in hyperfunctioning autonomous adenomas of the thyroid. J ClinEndocrinolMetab. Vol. 79, p. 1785-1789.

32. Porcellini A, Ciullo I, Laviola L, et al. (1994) Novel mutations of thyrotropin receptor gene in thyroid hyperfunctioning adenomas. Rapid identification by fine needle aspiration biopsy. J ClinEndocrinolMetab. Vol. 79, p. 657-661.

33. Lahner E, Centanni M, Agnello G, Gargano L, Vannella L, Iannoni C, et al. (2008) Occurrence and risk factors for autoimmune thyroid disease in patients with atrophic body gastritis. Am J Med. Vol. 121 p. 136–41

34. Parma J, Duprez L, Van Sande J, et al. (1997) Diversity and prevalence of somatic mutations in the thyrotropin receptor and Gs alpha genes as a cause of toxic thyroid adenomas. J ClinEndocrinolMetab. Vol. 82 p. 2695- 2701.

35. Reiners C., Wegscheider K., Schicha H. et al. (2004) Prevalence of thyroid disorders in the working population of Germany: ultrasonography screening in 96,278 unselected employees. Thyroid. Vol. 14, p. 926–932.

36. Parma J, Van Sande J, Swillens S, et al. (1995) Somatic mutations causing constitutive activity of the thyrotropin receptor are the major cause of hyperfunctioning thyroid adenomas: identification of additional mutations activating both the cyclic adenosine 3’,5’-monophosphate and inositol phosphate-Ca2+ cascades. MolEndocrinol. Vol. 9, p. 725-733.

37. Fuhrer D, Holzapfel HP, Wonerow P, et al. (1997) Somatic mutations in the thyrotropin receptor gene and not in the Gs alpha protein gene in 31 toxic thyroid nodules. J ClinEndocrinolMetab. vol. 82, p. 3885- 3891.

38. Porcellini A, Ciullo I, Pannain S, et al. (1995) Somatic mutations in the VI transmembrane segment of the thyrotropin receptor constitutively activate cAMP signaling in thyroid hyperfunctioning adenomas. Oncogene. Vol. 11, p.1089-1093.

39. Holzapfel HP, Wonerow P, von Petrykowski W, et al. (1997) Sporadic congenital hyperthyroidism due to a spontaneous germline mutation in the thyrotropin receptor gene. J ClinEndocrMetab. Vol. 82, p. 3879 - 3884.

40. Volzke H., Ludemann J., Robinson D. M. et al. (2003) The prevalence of undiagnosed thyroid disorders in a previously iodine-deficient area. Thyroid. Vol. 13, p. 803–810.

41. Fuhrer D., Lachmund P., Nebel I. T. et al. (2003) The thyrotropin receptor mutation database. Thyroid. Vol. 13, p. 1123–1126.

42. Russo D, Arturi F, Suarez HG, et al. (1996) Thyrotropin receptor gene alterations in thyroid hyperfunctioning adenomas. J ClinEndocrinolMetab. Vol. 81, p.1548-1551.

43. Volp R. (1999) Autoimmune diseases of the endocrine system. CRC/ Boca Raton. p. 51– 100.


Review

For citations:


Sunkhalyrova T.K., Dodokhov V.V., Solov’eva N.A., Pavlova N.I., Filippova N.P., Neustroeva L.M., Varlamova M.A., D’yakonova A.T., Kurtanov Kh.A. Genetic factors of predisposition to autoimmune thyropathies. Yakut Medical Journal. 2018;(2):106-109. https://doi.org/10.25789/YMJ.2018.62.32

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