Genetics of thyroid function disease

Clinical Biochemist Reviews

Volumn 32, Issue 4, 2011, Pages 165-175

  panicker, Vijay ^a  

^a SIR CHARLES GAIRDNER HOSPITAL   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84855522667     PISSN: 01598090     EISSN: 18380212     Source Type: Journal    
DOI: None     Document Type: Article

References (66)

1. McLeod DS. Current concepts and future directions in differentiated thyroid cancer. Clin Biochem Rev 2010;31:9-19.
2. 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. J Clin Endocrinol Metab 2002;87:1068-72.
3. Asvold BO, Vatten LJ, Nilsen TI, Bjøro T. The association between TSH within the reference range and serum lipid concentrations in a population-based study. The HUNT Study. Eur J Endocrinol 2007;156:181-6.
4. Saravanan P, Visser TJ, Dayan CM. Psychological well-being correlates with free thyroxine but not free 3,5,3'-triiodothyronine levels in patients on thyroid hormone replacement. J Clin Endocrinol Metab 2006;91:3389-93.
5. Gussekloo J, van Exel E, de Craen AJ, Meinders AE, Frölich M, Westendorp RG. Thyroid status, disability and cognitive function, and survival in old age. JAMA 2004;292:2591-9.
6. Panicker V, Wilson SG, Spector TD, Brown SJ, Falchi M, Richards JB, et al. Heritability of serum TSH, free T4 and free T3 concentrations: a study of a large UK twin cohort. Clin Endocrinol (Oxf) 2008;68:652-9.
7. Hansen PS, Brix TH, Sørensen TI, Kyvik KO, Hegedüs L. Major genetic influence on the regulation of the pituitary-thyroid axis: a study of healthy Danish twins. J Clin Endocrinol Metab 2004;89:1181-7.
8. Samollow PB, Perez G, Kammerer CM, Finegold D, Zwartjes PW, Havill LM, et al. Genetic and environmental influences on thyroid hormone variation in Mexican Americans. J Clin Endocrinol Metab 2004;89:3276-84.
9. Martin LJ, Crawford MH. Genetic and environmental components of thyroxine variation in Mennonites from Kansas and Nebraska. Hum Biol 1998;70:745-60.
10. 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;66:588-92.
11. International HapMap Consortium. A haplotype map of the human genome. Nature 2005;437:1299-320.
12. Wellcome Trust Case Control Consortium. Genomewide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature 2007;447:661-78.
13. Friesema EC, Ganguly S, Abdalla A, Manning Fox JE, Halestrap AP, Visser TJ. Identification of monocarboxylate transporter 8 as a specific thyroid hormone transporter. J Biol Chem 2003;278:40128-35.
14. Pizzagalli F, Hagenbuch B, Stieger B, Klenk U, Folkers G, Meier PJ. Identification of a novel human organic anion transporting polypeptide as a high affinity thyroxine transporter. Mol Endocrinol 2002;16:2283-96.
15. Arnaud-Lopez L, Usala G, Ceresini G, Mitchell BD, Pilia MG, Piras MG, et al. Phosphodiesterase 8B gene variants are associated with serum TSH levels and thyroid function. Am J Hum Genet 2008;82:1270-80.
16. Shields BM, Freathy RM, Knight BA, Hill A, Weedon MN, Frayling TM, et al. Phosphodiesterase 8B gene polymorphism is associated with subclinical hypothyroidism in pregnancy. J Clin Endocrinol Metab 2009;94:4608-12.
17. Panicker V, Wilson SG, Walsh JP, Richards JB, Brown SJ, Beilby JP, et al. A locus on chromosome 1p36 is associated with thyrotropin and thyroid function as identified by genome-wide association study. Am J Hum Genet 2010;87:430-5.
18. Taylor PN, Panicker V, Sayers A, Shields B, Iqbal A, Bremner AP, et al. A meta-analysis of the associations between common variation in the PDE8B gene and thyroid hormone parameters, including assessment of longitudinal stability of associations over time and effect of thyroid hormone replacement. Eur J Endocrinol 2011;164:773-80.
19. Peeters RP, van Toor H, Klootwijk W, de Rijke YB, Kuiper GG, Uitterlinden AG, et al. Polymorphisms in thyroid hormone pathway genes are associated with plasma TSH and iodothyronine levels in healthy subjects. J Clin Endocrinol Metab 2003;88:2880-8.
20. Hansen PS, van der Deure WM, Peeters RP, Iachine I, Fenger M, Sørensen TI, 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.
21. van der Deure WM, Uitterlinden AG, Hofman A, Rivadeneira F, Pols HA, Peeters RP, et al. Effects of serum TSH and FT4 levels and the TSHR-Asp727Glu polymorphism on bone: the Rotterdam Study. Clin Endocrinol (Oxf) 2008;68:175-81.
22. Panicker V, Cluett C, Shields B, Murray A, Parnell KS, Perry JR, et al. A common variation in deiodinase 1 gene DIO1 is associated with the relative levels of free thyroxine and triiodothyronine. J Clin Endocrinol Metab 2008;93:3075-81.
23. de Jong FJ, Peeters RP, den Heijer T, van der Deure WM, Hofman A, Uitterlinden AG, et al. The association of polymorphisms in the type 1 and 2 deiodinase genes with circulating thyroid hormone parameters and atrophy of the medial temporal lobe. J Clin Endocrinol Metab 2007;92:636-40.
24. Panicker V, Saravanan P, Vaidya B, Evans J, Hattersley AT, Frayling TM, et al. Common variation in the DIO2 gene predicts baseline psychological well-being and response to combination thyroxine plus triiodothyronine therapy in hypothyroid patients. J Clin Endocrinol Metab 2009;94:1623-9.
25. Appelhof BC, Peeters RP, Wiersinga WM, Visser TJ, Wekking EM, Huyser J, et al. Polymorphisms in type 2 deiodinase are not associated with wellbeing, neurocognitive functioning, and preference for combined thyroxine/3,5,3'-triiodothyronine therapy. J Clin Endocrinol Metab 2005;90:6296-9.
26. Guo TW, Zhang FC, Yang MS, Gao XC, Bian L, Duan SW, et al. Positive association of the DIO2 (deiodinase type 2) gene with mental retardation in the iodinedeficient areas of China. J Med Genet 2004;41:585-90.
27. He B, Li J, Wang G, Ju W, Lu Y, Shi Y, et al. Association of genetic polymorphisms in the type II deiodinase gene with bipolar disorder in a subset of Chinese population. Prog Neuropsychopharmacol Biol Psychiatry 2009;33:986-90.
28. Meulenbelt I, Min JL, Bos S, Riyazi N, Houwing-Duistermaat JJ, van der Wijk HJ, et al. Identification of DIO2 as a new susceptibility locus for symptomatic osteoarthritis. Hum Mol Genet 2008;17:1867-75.
29. Dentice M, Bandyopadhyay A, Gereben B, Callebaut I, Christoffolete MA, Kim BW, et al. The Hedgehoginducible ubiquitin ligase subunit WSB-1 modulates thyroid hormone activation and PTHrP secretion in the developing growth plate. Nat Cell Biol 2005;7:698-705.
30. Murphy E, Williams GR. The thyroid and the skeleton. Clin Endocrinol (Oxf) 2004;61:285-98.
31. Peeters RP, van der Deure WM, van den Beld AW, van Toor H, Lamberts SW, Janssen JA, et al. The Asp727Glu polymorphism in the TSH receptor is associated with insulin resistance in healthy elderly men. Clin Endocrinol (Oxf) 2007;66:808-15.
32. Bell A, Gagnon A, Grunder L, Parikh SJ, Smith TJ, Sorisky A. Functional TSH receptor in human abdominal preadipocytes and orbital fibroblasts. Am J Physiol Cell Physiol 2000;279:C335-40.
33. Atzmon G, Barzilai N, Surks MI, Gabriely I. Genetic predisposition to elevated serum thyrotropin is associated with exceptional longevity. J Clin Endocrinol Metab 2009;94:4768-75.
34. Tietz NW, Shuey DF, Wekstein DR. Laboratory values in fit aging individuals-sexagenarians through centenarians. Clin Chem 1992;38:1167-85.
35. Atzmon G, Barzilai N, Hollowell JG, Surks MI, Gabriely I. Extreme longevity is associated with increased serum thyrotropin. J Clin Endocrinol Metab 2009;94:1251-4.
36. Peeters RP, van den Beld AW, van Toor H, Uitterlinden AG, Janssen JA, Lamberts SW, et al. A polymorphism in type I deiodinase is associated with circulating free insulin-like growth factor I levels and body composition in humans. J Clin Endocrinol Metab 2005;90:256-63.
37. van der Deure WM, Appelhof BC, Peeters RP, Wiersinga WM, Wekking EM, Huyser J, et al. Polymorphisms in the brain-specific thyroid hormone transporter OATP1C1 are associated with fatigue and depression in hypothyroid patients. Clin Endocrinol (Oxf) 2008;69:804-11.
38. Gumieniak O, Perlstein TS, Williams JS, Hopkins PN, Brown NJ, Raby BA, et al. Ala92 type 2 deiodinase allele increases risk for the development of hypertension. Hypertension 2007;49:461-6.
39. Canani LH, Capp C, Dora JM, Meyer EL, Wagner MS, Harney JW, et 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. J Clin Endocrinol Metab 2005;90:3472-8.
40. Fiorito M, Torrente I, De Cosmo S, Guida V, Colosimo A, Prudente S, et al. Interaction of DIO2 T92A and PPARgamma2 P12A polymorphisms in the modulation of metabolic syndrome. Obesity (Silver Spring) 2007;15:2889-95.
41. Mentuccia D, Proietti-Pannunzi L, Tanner K, Bacci V, Pollin TI, Poehlman ET, et al. 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;51:880-3.
42. Grarup N, Andersen MK, Andreasen CH, Albrechtsen A, Borch-Johnsen K, Jørgensen T, et al. Studies of the common DIO2 Thr92Ala polymorphism and metabolic phenotypes in 7342 Danish white subjects. J Clin Endocrinol Metab 2007;92:363-6.
43. Mentuccia D, Thomas MJ, Coppotelli G, Reinhart LJ, Mitchell BD, Shuldiner AR, et al. The Thr92Ala deiodinase type 2 (DIO2) variant is not associated with type 2 diabetes or indices of insulin resistance in the old order of Amish. Thyroid 2005;15:1223-7.
44. Maia AL, Dupuis J, Manning A, Liu C, Meigs JB, Cupples LA, et al. The type 2 deiodinase (DIO2) A/G polymorphism is not associated with glycemic traits: the Framingham Heart Study. Thyroid 2007;17:199-202.
45. Leese GP, Flynn RV, Jung RT, Macdonald TM, Murphy MJ, Morris AD. Increasing prevalence and incidence of thyroid disease in Tayside, Scotland: the Thyroid Epidemiology Audit and Research Study (TEARS). Clin Endocrinol (Oxf) 2008;68:311-6.
46. Vaidya B, Kendall-Taylor P, Pearce SH. The genetics of autoimmune thyroid disease. J Clin Endocrinol Metab 2002;87:5385-97.
47. 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;86:930-4.
48. Farid NR, Sampson L, Noel EP, Barnard JM, Mandeville R, Larsen B, et al. A study of human leukocyte D locus related antigens in Graves' disease. J Clin Invest 1979;63:108-13.
49. Zamani M, Spaepen M, Bex M, Bouillon R, Cassiman JJ. Primary role of the HLA class II DRB1*0301 allele in Graves disease. Am J Med Genet 2000;95:432-7.
50. Ban Y, Davies TF, Greenberg DA, Concepcion ES, Osman R, Oashi T, et al. Arginine at position 74 of the HLA-DR beta1 chain is associated with Graves' disease. Genes Immun 2004;5:203-8.
51. Simmonds MJ, Howson JM, Heward JM, Cordell HJ, Foxall H, Carr-Smith J, et al. Regression mapping of association between the human leukocyte antigen region and Graves disease. Am J Hum Genet 2005;76:157-63.
52. Simmonds MJ, Howson JM, Heward JM, Carr-Smith J, Franklyn JA, Todd JA, et al. A novel and major association of HLA-C in Graves' disease that eclipses the classical HLA-DRB1 effect. Hum Mol Genet 2007;16:2149-53.
53. Tandon N, Zhang L, Weetman AP. HLA associations with Hashimoto's thyroiditis. Clin Endocrinol (Oxf) 1991;34:383-6.
54. Farid NR, Sampson L, Moens H, Barnard JM. The association of goitrous autoimmune thyroiditis with HLA-DR5. Tissue Antigens 1981;17:265-8.
55. Moens H, Farid NR, Sampson L, Noel EP, Barnard JM. Hashimoto's thyroiditis is associated with HLA-DRw3. N Engl J Med 1978;299:133-4.
56. Ban Y, Davies TF, Greenberg DA, Concepcion ES, 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;57:81-8.
57. Petrone A, Giorgi G, Mesturino CA, Capizzi M, Cascino I, Nistico L, et al. 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;11:171-5.
58. Vang T, Congia M, Macis MD, Musumeci L, Orrú V, Zavattari P, et al. Autoimmune-associated lymphoid tyrosine phosphatase is a gain-of-function variant. Nat Genet 2005;37:1317-9.
59. Velaga MR, Wilson V, Jennings CE, Owen CJ, Herington S, Donaldson PT, et al. The codon 620 tryptophan allele of the lymphoid tyrosine phosphatase (LYP) gene is a major determinant of Graves' disease. J Clin Endocrinol Metab 2004;89:5862-5.
60. Criswell LA, Pfeiffer KA, Lum RF, Gonzales B, Novitzke J, Kern M, et al. 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;76:561-71.
61. Gough SC, Walker LS, Sansom DM. CTLA4 gene polymorphism and autoimmunity. Immunol Rev 2005;204:102-15.
62. Yanagawa T, Hidaka Y, Guimaraes V, Soliman M, DeGroot LJ. CTLA-4 gene polymorphism associated with Graves' disease in a Caucasian population. J Clin Endocrinol Metab 1995;80:41-5.
63. Vaidya B, Pearce S. The emerging role of the CTLA-4 gene in autoimmune endocrinopathies. Eur J Endocrinol 2004;150:619-26.
64. Donner H, Rau H, Walfish PG, Braun J, Siegmund T, Finke R, et al. CTLA4 alanine-17 confers genetic susceptibility to Graves' disease and to type 1 diabetes mellitus. J Clin Endocrinol Metab 1997;82:143-6.
65. Kotsa K, Watson PF, Weetman AP. A CTLA-4 gene polymorphism is associated with both Graves disease and autoimmune hypothyroidism. Clin Endocrinol (Oxf) 1997;46:551-4.
66. Ueda H, Howson JM, Esposito L, Heward J, Snook H, Chamberlain G, et al. Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease. Nature 2003;423:506-11.