Genetic variation in thyroid hormone pathway genes; polymorphisms in the TSH receptor and the iodothyronine deiodinases

European Journal of Endocrinology

Volumn 155, Issue 5, 2006, Pages 655-662

  Peeters, Robin P ^a   van der Deure, Wendy M ^a   Visser, Theo J ^a  

^a ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

IODOTHYRONINE; IODOTHYRONINE SELENODEIODINASE D1; IODOTHYRONINE SELENODEIODINASE D2; IODOTHYRONINE SELENODEIODINASE D3; THYROID HORMONE; THYROTROPIN RECEPTOR; THYROXINE DEIODINASE;

GENE MUTATION; GENETIC VARIABILITY; GRAVES DISEASE; HORMONE ACTION; HUMAN; HYPERTHYROIDISM; INSULIN RESISTANCE; NONHUMAN; PRIORITY JOURNAL; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM; THYROID FUNCTION;

ANIMALS; HUMANS; IODIDE PEROXIDASE; ISOENZYMES; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTORS, THYROTROPIN; THYROID HORMONES; TRIIODOTHYRONINE; TRIIODOTHYRONINE, REVERSE; VARIATION (GENETICS);

EID: 33845270781     PISSN: 08044643     EISSN: None     Source Type: Journal    
DOI: 10.1530/eje.1.02279     Document Type: Review

References (69)

1. Andersen S, Pedersen KM, Bruun NH & Laurberg P. Narrow individual variations in serum T(4) and T(3) in normal subjects: a clue to the understanding of subclinical thyroid disease. Journal of Clinical Endocrinology and Metabolism 2002 87 1068-1072.
2. Ilansen PS, Brix TH, Sorensen TI, Kyvik KO & Hegedus L. Major genetic influence on the regulation of the pituitary-thyroid axis: a study of healthy Danish twins. Journal of Clinical Endocrinology and Metabolism 2004 89 1181-1187.
3. Samollow PB, Perez G, Kammerer CM, Finegold D, Zwartjes PW, Havill LM, Comuzzie AG, Mahaney MC, Goring HH, Blangero J, Foley TP & Barmada MM. Genetic and environmental influences on thyroid hormone variation in Mexican Americans. Journal of Clinical Endocrinology and Metabolism 2004 89 3276-3284.
4. Toft AD. Clinical practice. Subclinical hyperthyroidism. New England Journal of Medicine 2001 345 512-516.
5. Cooper DS. Clinical practice. Subclinical hypothyroidism. New England Journal of Medicine 2001 345 260-265.
6. Knudsen N, Laurberg P, Rasmussen LB, Bulow I, Perrild H, Ovesen L & Jorgensen T. Small differences in thyroid function may be important for body mass index and the occurrence of obesity in the population. Journal of Clinical Endocrinology and Metabolism 2005 90 4019-4024.
7. Krohn K & Paschke R. Somatic mutations in thyroid nodular disease. Molecular Genetics and Metabolism 2002 75 202-208.
8. Sunthornthepvarakui T, Gottschalk ME, Hayashi Y & Refetoff S. Brief report: resistance to thyrotropin caused by mutations in the thyrotropin-receptor gene. New England Journal of Medicine 1995 332 155-160.
9. Sunthornthepvarakul T, Hayashi Y & Refetoff S. Polymorphism of a variant human thyrotropin receptor (hTSHR) gene. Thyroid 1994 4 147-149.
10. Gustavsson B, Eklof C, Westermark K, Westermark B & Heldin NE. Functional analysis of a variant of the thyrotropin receptor gene in a family with Graves' disease. Molecular and Cellular Endocrinology 1995 111 167-173.
11. Gabriel EM, Bergert ER, Grant CS, Van Heerden JA, Thompson GB & Morris JC. Germline polymorphism of codon 727 of human thyroid-stimulating hormone receptor is associated with toxic multinodular goiter. Journal of Clinical Endocrinology and Metabolism 1999 84 3328-3335.
12. Villanueva R, Inzerillo AM, Tomer Y, Barbesino G, Meltzer M, Concepcion ES, Greenberg DA, Maclaren N, Sun ZS, Zhang DM, Tucci S & Davies TF. Limited genetic susceptibility to severe Graves' ophthalmopathy: no role for CTLA-4 but evidence for an environmental etiology. Thyroid 2000 10 791-798.
13. Sale MM, Akamizu T, Howard TD, Yokota T, Nakao K, Mori T, Iwasaki H, Rich SS, Jennings-Gee JE, Yamada M & Bowden DW. Association of autoimmune thyroid disease with a microsatellite marker for the thyrotropin receptor gene and CTLA-4 in a Japanese population. Proceedings of the Association of American Physicians 1997 109 453-461.
14. Hiratani H, Bowden DW, Ikegami S, Shirasawa S, Shimizu A, Iwatani Y & Akamizu T. Multiple SNPs in intron 7 of thyrotropin receptor are associated with Graves' disease. Journal of Clinical Endocrinology and Metabolism 2005 90 2898-2903.
15. Akamizu T, Sale MM, Rich SS, Hiratani H, Noh JY, Kanamoto N, Saijo M, Miyamoto Y, Saito Y, Nakao K & Bowden DW. Association of autoimmune thyroid disease with microsatellite markers for the thyrotropin receptor gene and CTLA-4 in Japanese patients. Thyroid 2000 10 851-858.
16. De Roux N, Misrahi M, Chatelain N, Gross B & Milgrom E. Microsatellites and PCR primers for genetic studies and genomic sequencing of the human TSH receptor gene. Molecular and Cellular Endocrinology 1996 117 253-256.
17. Peeters RP, Van Toor H, Klootwijk W, De Rijke YB, Kuiper GG, Uitterlinden AG & Visser TJ. Polymorphisms in thyroid hormone pathway genes are associated with plasma TSH and iodothyronine levels in healthy subjects. Journal of Clinical Endocrinology and Metabolism 2003 88 2880-2888.
18. Hansen PS, Van Der Deure WM, Peeters RP, Iachine I, Fenger M, Sørensen TIA, Kyvik KO, Visser TJ & Hegedüs L. The impact of a TSH receptor gene polymorphism. (Asp727Glu) on thyroid function and size in a healthy Danish twin population. 31st Annual Meeting of the European Thyroid Association, Naples, Italy, 2006 (Abstract P 168).
19. Van Der Deure WM, Uitterlinden AG, Pols HAP Peeters RP & Visser TJ. The TSH receptor Asp727Glu polymorphism is associated with higher bone mineral density and bone mineral content. 13th International Thyroid Congress, Buenos Aires, Argentina, 2005 (Abstract 0 57).
20. Nogueira CR, Kopp P, Arseven OK, Santos CL, Jameson JL & Medeiros-Neto G. Thyrotropin receptor mutations in hyperfunctioning thyroid adenomas from Brazil. Thyroid 1999 9 1063-1068.
21. Sykiotis GP, Neumann S, Georgopoulos NA, Sgourou A, Papachatzopoulou A, Markou KB, Kyriazopoulou V, Paschke R, Vagenakis AG & Papavassiliou AG. Functional significance of the thyrotropin receptor germline polymorphism D727E. Biochemical and Biophysical Research Communications 2003 301 1051-1056.
22. Dechairo BM, Zabaneh D, Collins J, Brand O, Dawson GJ, Green AP, Mackay I, Franklyn JA, Connell JM, Wass JA, Wiersinga WM, Hegedus L, Brix T, Robinson BG, Hunt PJ, Weetman AP, Carey AH & Gough SC. Association of the TSHR gene with Graves' disease: the first disease specific locus. European Journal of Human Genetics 2005 13 1223-1230.
23. Cuddihy RM, Bryant WP & Balm RS. Normal function in vivo of a homozygotic polymorphism in the human thyrotropin receptor. Thyroid 1995 5 255-257.
24. Loos U, Hagner S, Bohr UR, Bogatkewitsch GS, Jakobs KH & Van Koppen CJ. Enhanced cAMP accumulation by the human thyrotropin receptor variant with the Pro52Thr substitution in the extracellular domain. European Journal of Biochemistry 1995 232 62-65.
25. Tonacchera M & Pinchera A. Thyrotropin receptor polymorphisms and thyroid diseases. Journal of Clinical Endocrinology and Metabolism 2000 85 2637-2639.
26. Calebiro D, De Filippis T, Lucchi S, Covino C, Panigone S, Beck-Peccoz P, Dunlap D & Persani L. Intracellular entrapment of wild-type TSH receptor by oligomerization with mutants linked to dominant TSH resistance. Human Molecular Genetics 2005 14 2991-3002.
27. Tomer Y, Barbesino G, Keddache M, Greenberg DA & Davies TF. Mapping of a major susceptibility locus for Graves' disease (GD-1) to chromosome 14q31. Journal of Clinical Endocrinology and Metabolism 1997 82 1645-1648.
28. Ban Y, Greenberg DA, Concepcion ES & Tomer Y. A germline single nucleotide polymorphism at the intracellular domain of the human thyrotropin receptor does not have a major effect on the development of Graves' disease. Thyroid 2002 12 1079-1083.
29. Cuddihy RM, Dutton CM & Balm RS. A polymorphism in the extracellular domain of the thyrotropin receptor is highly associated with autoimmune thyroid disease in females. Thyroid 1995 5 89-95.
30. Ho SC, Goh SS & Khoo DH. Association of Graves' disease with intragenic polymorphism of the thyrotropin receptor gene in a cohort of Singapore patients of multi-ethnic origins. Thyroid 2003 13 523-528.
31. Nakabayashi K, Matsumi H, Bhalla A, Bae J, Mosselman S, Hsu SY & Hsueh AJ. Thyrostimulin, a heterodimer of two new human glycoprotein hormone subunits, activates the thyroid-stimulating hormone receptor. Journal of Clinical Investigation 2002 109 1445-1452.
32. Muhlberg T, Herrmann K, Joba W, Kirchberger M, Heberling HJ & Heufelder AE. Lack of association of nonautoimmune hyperfunctioning thyroid disorders and a germline polymorphism of codon 727 of the human thyrotropin receptor in a European Caucasian population. Journal of Clinical Endocrinology and Metabolism 2000 85 2640-2643.
33. Chistiakov DA, Savost'anov KV, Turakulov RI, Petunina N, Balabolkin MI & Nosikov VV. Further studies of genetic susceptibility to Graves' disease in a Russian population. Medical Science Monitor 2002 8 CR180-CR184.
34. Chistiakov DA. Thyroid-stimulating hormone receptor and its role in Graves' disease. Molecular Genetics and Metabolism 2003 80 377-388.
35. Chistiakov DA, Savost'anov KV & Turakulov RI. Screening of SNPs at 18 positional candidate genes, located within the GD-1 locus on chromosome 14q23-q32, for susceptibility to Graves' disease: a TDT study. Molecular Genetics and Metabolism 2004 83 264-270.
36. Ioannidis JP. Genetic associations: false or true? Trends in Molecular Medicine 2003 9 135-138.
37. Bell A, Gagnon A, Grunder L, Parikh SJ, Smith TJ & Sorisky A. Functional TSH receptor in human abdominal preadipocytes and orbital fibroblasts. American Journal of Physiology. Cell Physiology 2000 279 C335-C340.
38. Crisanti P, Omri B, Hughes E, Meduri G, Hery C, Clauser E, Jacquemin C & Saunier B. The expression of thyrotropin receptor in the brain. Endocrinology 2001 142 812-822.
39. Bahn RS, Dutton CM, Natt N, Joba W, Spitzweg C & Heufelder AE. Thyrotropin receptor expression in Graves' orbital adipose/connective tissues: potential autoantigen in Graves' ophthalmopathy. Journal of Clinical Endocrinology and Metabolism 1998 83 998-1002.
40. Paschke R & Geenen V. Messenger RNA expression for a TSH receptor variant in the thymus of a two-year-old child. Journal of Molecular Medicine 1995 73 577-580.
41. Abe E, Marians RC, Yu W, Wu XB, Ando T, Li Y, Iqbal J, Eldeiry L, Rajendren G, Blair HC, Davies TF & Zaidi M. TSH is a negative regulator of skeletal remodeling. Cell 2003 115 151-162.
42. Haraguchi K, Shimura H, Kawaguchi A, Ikeda M, Endo T & Onaya T. Effects of thyrotropin on the proliferation and differentiation of cultured rat preadipocytes. Thyroid 1999 9 613-619.
43. Hernandez A, Fiering S, Martinez E, Galton VA & Germain D, St. The gene locus encoding iodothyronine deiodinase type 3 (Dio3) is imprinted in the fetus and expresses antisense transcripts. Endocrinology 2002 143 4483-4486.
44. Schneider MJ, Fiering SN, Pallud SE, Parlow AF, Germain DL, St & Galton VA. Targeted disruption of the type 2 selenodeiodinase gene (D102) results in a phenotype of pituitary resistance to T4. Molecular Endocrinology 2001 15 2137-2148.
45. Berry MJ, Grieco D, Taylor BA, Maia AL, Kieffer JD, Beamer W, Glover E, Poland A & Larsen PR. Physiological and genetic analyses of inbred mouse strains with a type I iodothyronine 5′ deiodinase deficiency. Journal of Clinical Investigation 1993 92 1517-1528.
46. Mentuccia D, Proietti-Pannunzi L, Tanner K, Bacci V, Pollin TI, Poehlman ET, Shuldiner AR & Celi FS. Association between a novel variant of the human type 2 deiodinase gene Thr92Ala and insulin resistance: evidence of interaction with the Trp64Arg variant of the beta-3-adrenergic receptor. Diabetes 2002 51 880-883.
47. Peeters RP, Van Den Beld AW, Attalki H, Toor H, De Rijke YB, Kuiper GG, Lamberts SW, Janssen JA, Uitterlinden AG & Visser TJ. A new polymorphism in the type II deiodinase gene is associated with circulating thyroid hormone parameters. American Journal of Physiology. Endocrinology and Metabolism 2005 289 E75-E81.
48. Bianco AC, Salvatore D, Gereben B, Berry MJ & Larsen PR. Biochemistry, cellular and molecular biology, and physiological roles of the iodothyronine selenodeiodinases. Endocrine Reviews 2002 23 38-89.
49. Leonard JL & Koehrle J. Intracellular Pathways of Iodothyronine Metabolism Philadelphia, PA, USA: Lippincot Williams & Wilkins, 2000.
50. Peeters RP, Wouters PJ, Kaptein E, Van Toor H, Visser TJ & Van Den Berghe G. Reduced activation and increased inactivation of thyroid hormone in tissues of critically ill patients. Journal of Clinical Endocrinology and Metabolism 2003 88 3202-3211.
51. Peeters RP, Van Den Beld AW, Van Toor H. Uitterlinden AG, Janssen JAMJL, Lamberts SWF & Visser TJ. A polymorphism in type I deiodinase (D1) is associated with circulating free IGF-I levels and body composition in humans. Journal of Clinical Endocrinology and Metabolism 2005 90 256-263.
52. Steinsapir J, Bianco AC, Buettner C, Harney J & Larsen PR. Substrate-induced down-regulation of human type 2 deiodinase (hD2) is mediated through proteasomal degradation and requires interaction with the enzyme's active center. Endocrinology 2000 141 1127-1135.
53. Donda A & Lemarchand-Beraud T. Aging alters the activity of 5′-deiodinase in the adenohypophysis, thyroid gland, and liver of the male rat. Endocrinology 1989 124 1305-1309.
54. Gereben B, Kollar A, Harney JW & Larsen PR. The mRNA structure has potent regulatory effects on type 2 iodothyronine deiodinase expression. Molecular Endocrinology 2002 16 1667-1679.
55. Hussain MA, Schmidtz O, Jorgensen JO, Christiansen JS, Weeke J, Schmid C & Froesch ER. Insulin-like growth factor I alters peripheral thyroid hormone metabolism in humans: comparison with growth hormone. European Journal of Endocrinology 1996 134 563-567.
56. Angervo M, Leinonen P, Koistinen R, Julkunen M & Seppala M. Tri-iodothyronine and cycloheximide enhance insulin-like growth factor-binding protein-1 gene expression in human hepatoma cells. Journal of Molecular Endocrinology 1993 10 7-13.
57. Maia AL, Kim BW, Huang SA, Harney JW & Larsen PR. Type 2 iodothyronine deiodinase is the major source of plasma T3 in euthyroid humans. Journal of Clinical Investigation 2005 115 2524-2533.
58. Canani LH, Capp C, Dora JM, Meyer EL, Wagner MS, Harney JW, Larsen PR, Gross JL, Bianco AC & Maia AL. The type 2 deiodinase A/G (Thr92Ala) polymorphism is associated with decreased enzyme velocity and increased insulin resistance in patients with type 2 diabetes mellitus. Journal of Clinical Endocrinology and Metabolism 2005 90 3472-3478.
59. Peeters RP, Van Den Beld AW, Attalki H, Toor H, Kuiper GG, Lamberts SW. Janssen JA, Uitterlinden AG & Visser TJ. Polymorphisms in the type 2 deiodinase (D2) are associated with serum thyroid parameters and insulin resistance. 76th annual meeting of the American Thyroid Association, Vancouver, Canada, 2004 (P162).
60. Casla A, Rovira A, Wells JA & Dohm GL. Increased glucose transporter (GLUT4) protein expression in hyperthyroidism. Biochemical and Biophysical Research Communications 1990 171 182-188.
61. Viguerie N, Millet L, Avizou S, Vidal H, Larrouy D & Langin D. Regulation of human adipocyte gene expression by thyroid hormone. Journal of Clinical Endocrinology and Metabolism 2002 87 630-634.
62. Liu YY, Schultz JJ & Brent GA. A thyroid hormone receptor alpha gene mutation (P398H) is associated with visceral adiposity and impaired catecholamine-stimulated lipolysis in mice. Journal of Biological Chemistry 2003 278 38913-38920.
63. Watanabe M, Houton SM, Mataki C, Christoffolete MA, Kim BW, Sato H, Messaddeq N, Harney JW, Ezaki O, Kodama T, Schoonjans K, Bianco AC & Auwerx J. Bile acids induce energy expenditure by promoting intracellular thyroid hormone activation. Nature 2006 439 484-489.
64. Romijn JA & Fliers E. Sympathetic and parasympathetic innervation of adipose tissue: metabolic implications. Current Opinion in Clinical Nutrition and Metabolic Care 2005 8 440-444.
65. Guo TW, Zhang FC, Yang MS, Gao XC, Bian L, Duan SW, Zheng ZJ, Gao JJ, Wang H, Li RL, Feng GY, Clair D, St & He L. Positive association of the DIO2 (deiodinase type 2) gene with mental retardation in the iodine-deficient areas of China. Journal of Medical Genetics 2004 41 585-590.
66. Appelhof BC, Peeters RP, Wiersinga WM, Visser TJ, Wekking EM, Huyser J, Schene AH, Tijssen JGP, Hoogendijk WJG & Fliers E. Polymorphisms in type 2 deiodinase are not associated with well-being, neurocognitive functioning and preference for combined T4/T3 therapy. Journal of Clinical Endocrinology and Metabolism 2005 90 6296-6299.
67. Kester MH, Martinez De Mena R, Obregon MJ, Marinkovic D, Howatson A, Visser TJ, Hume R & Morreale DE Escobar G. Iodothyronine levels in the human developing brain: major regulatory roles of iodothyronine deiodinases in different areas. Journal of Clinical Endocrinology and Metabolism 2004 89 3117-3128.
68. Berghout A, Wiersinga WM, Smits NJ & Touber JL. Interrelationships between age, thyroid volume, thyroid nodularity. and thyroid function in patients with sporadic nontoxic goiter. American Journal of Medicine 1990 89 602-608.
69. Rieu M, Bekka S, Sambor B, Berrod JL & Fombeur JP. Prevalence of subclinical hyperthyroidism and relationship between thyroid hormonal status and thyroid ultrasonographic parameters in patients with non-toxic nodular goitre. Clinical Endocrinology (Oxf) 1993 39 67-71.