Association of polymorphous alleles of class II HLA genes with Graves' disease (GD) in Tuvinian population

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Aim: to consider association of polymorphous alleles of class II HLA genes with Graves’ disease (GD) in Tuvinian population. Methods. HLAgenotyping was accomplished in 40 GD patients and 164 volunteers randomly selected in Tuvinian population (native Siberian population, Mongoloids). GD was diagnosed accordind to the clinical and laboratory criteria. HLAgenotyping for 14 DRB1 alleles, 8 DQA1 alleles and 13 DQB1 alleles was performed by polymerase chain reaction sequencespecific primers (DNATechnology, Russia). Statistical analysis was performed using the Excoffer, Schneider and Kuffer package. RR have been calculated using Woolf method. Results. We found the HLAmarkers of predisposition to GD in Tuvinians: HLA DQA1*0501( RR = 1.76; p < 0.05) and DQB1*0301 (RR = 1.44; p < 0.05). Analysis of the HLA haplotypes showed, that DRB1*13DQA1*0501 DQB1*0301 was associated with an increased risk of GD (RR = 3.53). The protective were DRB1*0302 (RR = 0.19) and haplotype DRB1*04DQA1*0301DQB1*0302 (RR = 0.02). Conclusions. This molecular genetic study has been shown that HLA DQA1*0501, DQB1*0301 and haplotype DRB1*13DQA1*0501DQB1*0301 associated with Graves’ disease in Tuvinian population.

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  1. Jenkins R.C., Weetman A.P. Disease associations with autoimmune thyroid disease. Thyroid. 2002; 11: 977–988.
  2. Hansen P.S., Brix T.H., Iachine I., Kyvik K.O., Hegedus L. The rel ative importance of genetic and environmental effects for the early stages of thyroid autoimmunity: a study of healthy Danish twins. Eur. J. Endocrinol. 2006; 154: 29–38.
  3. Chen Q.Y., Huang W., She J.X., Baxter F., Volpe R., MacLaren N.K. HLADRB1*08, DRB1*03/DRB3*0101, and DRB3*0202 are susceptibility genes for Graves’ disease in North American Caucasians, whereas DRB1*07 is protective. J. Clin. Endocrinol. Metab. 1999; 84: 3182–3186.
  4. Sawai Y., Sawai Y., DeGroot L.J. Binding of human thyrotropin receptor peptides to a Graves’ disease predisposing human leuko cyte antigen Class II molecule. J. Clin. Endocrinol. Metab. 2000;85: 1176–1179.
  5. Inaba H., Martin W., Ardito M., De Groot A.S., De Groot L.J. The role of glutamic or aspartic acid in position four of the epitope binding motif and thyrotropin receptorextracellular domain epi tope selection in Graves’ disease. J. Clin. Endocrinol. Metab. 2010; 95: 2909–2916.
  6. Yanagawa T., Taniyama M., Enomoto S., Gomi K., Maruyama H., Ban Y., Saruta T. CTLA4 gene polymorphism confers susceptibi lity to Graves’ disease in Japanese. Thyroid. 1997; 7: 843.
  7. Wong G.W., Cheng S.H., Dorman J.S. et al. The HLADQ associa tions with Graves' disease in Chinese children. J. Clin. Endocrinol. (Oxf). 1999; 50 (4): 493–495.
  8. Осокина И.В. Эпидемиологические и иммуногенетические особенности йоддефицитных заболеваний и сахарного диабета у коренного и пришлого населения Средней Сибири: Автореф. дисс. ... докт. мед. наук. М., 2002. 39 с.
  9. Осокина И.В., Манчук В.Т. Йоддефицитные заболевания в Центральной Сибири. Новосибирск: Наука, 2012. 153 с.
  10. Осокина И.В., Болдырева М.Н., Алексеев Л.П. HLAмаркеры инсулинзависимого сахарного диабета в тувинской популяции. Сахарный диабет. 2001; 4: 8–9.
  11. Осокина И.В. Иммуногенетические аспекты сахарного диабета 1 типа. Новосибирск: Наука, 2012. 110 с.



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