ТИРОНЕТ – все о щитовидной железе Для специалистов Журнал Тиронет 2007 год № 4

Близнецовые исследования в изучении заболеваний щитовидной железы

Пиа Сков Хансен, Томас Хайберг Брикс, Ласло Хегедюс
Department of Endocrinology and Metabolism, Odense University Hospital, Denmark
The Danish Twin Registry, Epidemiology, Institute of Public Health, University of Southern Denmark, Odense, Denmark
Журнал «Thyroid International» - № 4 – 2007
Перевод В.В. Фадеева


  1. ^ MacGregor AJ, Snieder H, Schork NJ, Spector TD. Twins. Novel uses to study complex traits and genetic diseases. Trends Genet 2000; 16:131-134.
  2. ^ Neale MC, Maes HH. Methodology for Genetic Studies of Twins and Families. Kluwer Academic Publishers B.V., Dordrecht, The Netherlands, 2002.
  3. ^ Rijsdijk FV, Sham PC. Analytic approaches to twin data using structural equation models. Brief Bioinform 2002; 3:119-133.
  4. ^ Hrubec Z, Robinette CD. The study of human twins in medical research. N Engl J Med 1984; 310:435-441.
  5. ^ Greig WR, Boyle JA, Duncan A, et al. Genetic and non-genetic factors in simple goitre formation: evidence from a twin study. Q J Med 1967; 36:175-188.
  6. ^ Malamos B, Koutras DA, Kostamis P, et al. Endemic goitre in Greece: a study of 379 twin pairs. J Med Genet 1967; 4:16-18.
  7. ^ Brix TH, Kyvik KO, Hegedüs L. Major role of genes in the etiology of simple goiter in females: a population-based twin study. J Clin Endocrinol Metab 1999; 84:3071-3075.
  8. ^ Harvald B, Hauge M. A catamnestic investigation of Danish twins; a preliminary report. Dan Med Bull 1956; 3:150-158.
  9. ^ Verschuer OV. Die zwillingsforschung im dienste der inneren medizin. Verh dtsch Ges inn Med 1958; 64:262-273.
  10. ^ Brix TH, Christensen K, HolmNV, et al. A population-based study of Graves' disease in Danish twins. Clin Endocrinol (Oxf) 1998; 48:397-400.
  11. ^ Brix TH, Kyvik KO, Christensen K, Hegedüs L. Evidence for a major role of heredity in Graves' disease: a population- based study of two Danish twin cohorts. J Clin Endocrinol Metab 2001; 86:930-934.
  12. ^ Ringold DA, Nicoloff JT, Kesler M, et al. Further evidence for a strong genetic influence on the development of autoimmune thyroid disease: the California twin study. Thyroid 2002; 12:647-653.
  13. ^ Brix TH, Kyvik KO, Hegedüs L. A population-based study of chronic autoimmune hypothyroidism in Danish twins. J Clin Endocrinol Metab 2000; 85:536-539.
  14. ^ Buchanan WW, Boyle JA, Greig WR, et al. Distribution of certain autoantibodies in monozygotic and dizygotic twins. Ann Rheum Dis 1966; 25:463-468.
  15. ^ Phillips DI, Osmond C, Baird J, et al. Is birthweight associated with thyroid autoimmunity? A study in twins. Thyroid 2002; 12:377-380.
  16. ^ Hansen PS, Brix TH, Iachine I, et al. The relative 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.
  17. ^ Meikle AW, Stringham JD, Woodward MG, Nelson JC. Hereditary and environmental influences on the variation of thyroid hormones in normal male twins. J Clin Endocrinol Metab 1988; 66:588-592.
  18. ^ Hansen PS, Brix TH, Sørensen TIA, et al. Major genetic influence on the regulation of the pituitary-thyroid axis: A study of healthy Danish twins. J Clin Endocrinol Metab 2004; 89:1181-1187.
  19. ^ Hansen PS, Brix TH, Bennedbaek FN, et al. Genetic and Environmental Causes of Individual Differences in Thyroid Size: A Study of Healthy Danish Twins. J Clin Endocrinol Metab 2004; 89:2071-2077.
  20. ^ Hansen PS, Brix TH, Bennedbaek FN, et al. The relative importance of genetic and environmental factors in the aetiology of thyroid nodularity: a study of healthy Danish twins. Clin Endocrinol (Oxf) 2005; 62:380-386.
  21. ^ Brix TH, Hansen PS, Kyvik KO, Hegedüs L. Cigarette smoking and risk of clinically overt thyroid disease: a population-based twin case-control study. Arch Intern Med 2000; 160:661-666.
  22. ^ Brix TH, Kyvik KO, Hegedüs L. Low birth weight is not associated with clinically overt thyroid disease: a population based twin case-control study. Clin Endocrinol (Oxf) 2000; 53:171-176.
  23. ^ Brix TH, Hansen PS, RudbeckAB, et al. Low birth weight is not associated with thyroid autoimmunity: a population-based twin study. J Clin Endocrinol Metab 2006; 91:3499-3502.
  24. ^ Hansen PS, Wenzel BE, Brix TH, Hegedüs L. Yersinia enterocolitica infection does not confer an increased risk of thyroid antibodies: evidence from a Danish twin study. Clin Exp Immunol 2006; 146:32-38.
  25. ^ Brix TH, Knudsen GP, Kristiansen M, et al. High frequency of skewed X-chromosome inactivation in females with autoimmune thyroid disease: a possible explanation for the female predisposition to thyroid autoimmunity. J Clin Endocrinol Metab 2005; 90:5949-5953.
  26. ^ Brix TH, Hegedüs L. Genetic and environmental factors in the aetiology of simple goitre. Ann Med 2000; 32:153-156.
  27. ^ Laurberg P, Bulow P, I, Knudsen N, et al. Environmental iodine intake affects the type of nonmalignant thyroid disease. Thyroid 2001; 11:457-469.
  28. ^ Hegedüs L, Karstrup S, Veiergang D, et al. High frequency of goitre in cigarette smokers. Clin Endocrinol (Oxf) 1985; 22:287-292.
  29. ^ Worthington J, Silman AJ. Genetic control of autoimmunity, lessons from twin studies. Clin Exp Immunol 1995; 101:390-392.
  30. ^ Kyvik KO, Green A, Beck-Nielsen H. Concordance rates of insulin dependent diabetes mellitus: a population based study of young Danish twins. BMJ 1995; 311:913-917.
  31. ^ Prummel MF, Strieder T, Wiersinga WM. The environment and autoimmune thyroid diseases. Eur J Endocrinol 2004; 150:605-618.
  32. ^ Weetman AP, McGregor AM. Autoimmune thyroid disease: further developments in our understanding. Endocr Rev 1994; 15:788-830.
  33. ^ Tomer Y, Davies TF. Searching for the autoimmune thyroid disease susceptibility genes: from gene mapping to gene function. Endocr Rev 2003; 24:694-717.
  34. ^ Baloch Z, Carayon P, Conte-Devolx B, et al. Laboratory medicine practice guidelines. Laboratory support for the diagnosis and monitoring of thyroid disease. Thyroid 2003; 13:3-126.
  35. ^ Brabant G, Beck-Peccoz P, Jarzab B, et al. Is there a need to redefine the upper normal limit of TSH? Eur J Endocrinol 2006; 154:633-637.
  36. ^ Jensen E, Hyltoft PP, Blaabjerg O, et al. Establishment of a serum thyroid stimulating hormone (TSH) reference interval in healthy adults. The importance of environmental factors, including thyroid antibodies. Clin Chem Lab Med 2004; 42:824-832.
  37. ^ Schulze TG, McMahon FJ. Defining the phenotype in human genetic studies: forward genetics and reverse phenotyping. Hum Hered 2004; 58:131-138.
  38. ^ Newton-Cheh C, Hirschhorn JN. Genetic association studies of complex traits: design and analysis issues. Mutat Res 2005; 573:54-69.
  39. ^ Spector TD, Ahmadi KR, Valdes AM. When is a replication not a replication? Or how to spot a good genetic association study. Arthritis Rheum 2006; 54:1051-1054.
  40. ^ Rice JP, Saccone NL, Rasmussen E. Definition of the phenotype. Adv Genet 2001; 42:69-76.
  41. ^ Sing CF, HavilandMB, Reilly SL. Genetic architecture of common multifactorial diseases. Ciba Found Symp 1996; 197:211-229.
  42. ^ Hansen PS, Brix TH, Iachine I, et al. Genetic and environmental interrelations between measures of thyroid function in a healthy Danish twin population. Am J Physiol Endocrinol Metab 2007; 292: E765-770.
  43. ^ Van Den Oord EJ, Snieder H. Including measured genotypes in statistical models to study the interplay of multiple factors affecting complex traits. Behav Genet 2002; 32:1-22.
  44. ^ Peeters RP, van Toor H, Klootwijk W, et al. Polymorphisms in thyroid hormone pathway genes are associated with plasma TSH and iodothyronine levels in healthy subjects. J Clin Endocrinol Metab 2003; 88:2880-2888.
  45. ^ Gabriel EM, Bergert ER, Grant CS, et al. Germline polymorphism of codon 727 of human thyroid-stimulating hormone receptor is associated with toxic multinodular goiter. J Clin Endocrinol Metab 1999; 84:3328-3335.
  46. ^ Hansen PS, van der Deure W.M, Peeters RP, et al. The impact of a TSH receptor gene polymorphism on thyroid related phenotypes in a healthy Danish Twin Population. Clin Endocrinol (Oxf). 2007; 66: 827-32.
  47. ^ Langer P, Tajtakova M, Bohov P, Klimes I. Possible role of genetic factors in thyroid growth rate and in the assessment of upper limit of normal thyroid volume in iodine-replete adolescents. Thyroid 1999; 9:557-562.
  48. ^ Buchanan WW, Boyle JA, Greig WR, et al. Occurrence of autoantibodies in healthy twins. Clin Exp Immunol 1967; 2 Supp 11.
  49. ^ Petronis A. Epigenetics and twins: three variations on the theme. Trends Genet 2006; 22: 47- 50.
  50. ^ Mill J, Dempster E, Caspi A, et al. Evidence for monozygotic twin (MZ) discordance in methylation level at two CpG sites in the promoter region of the catechol-O-methyltransferase (COMT) gene. Am J Med Genet B Neuropsychiatr Genet 2006; 141:421-425.