Identification and consequences of polymorphisms in the thyroid hormone receptor alpha and beta genes

Thyroid

Volumn 18, Issue 10, 2008, Pages 1087-1094

  Sørensen, Helena Gásdal ^a   Van Der Deure, Wendy M ^b   Hansen, Pia Skov ^a,c   Peeters, Robin P ^b   Breteler, Monique M B ^b   Kyvik, Kirsten Ohm ^c,d   Sørensen, Thorkild I A ^e   Hegedüs, Laszlo ^a   Visser, Theo J ^b  

^a ODENSE UNIVERSITY HOSPITAL   (Denmark)

^b ERASMUS MEDICAL CENTER   (Netherlands)

^c UNIVERSITY OF SOUTHERN DENMARK   (Denmark)

^d Institute of Regional Health Services Research   (Denmark)

^e The Capital Region   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

3,3',5' TRIIODOTHYRONINE; LIOTHYRONINE RECEPTOR; THYROID HORMONE; THYROID HORMONE RECEPTOR ALPHA; THYROID HORMONE RECEPTOR BETA; THYROTROPIN; THYROXINE;

3' UNTRANSLATED REGION; ADULT; AGED; ARTICLE; BIOASSAY; DNA FLANKING REGION; EXON; FEMALE; FREE LIOTHYRONINE INDEX; FREE THYROXINE INDEX; GENOTYPE; HUMAN; INTRON; MAJOR CLINICAL STUDY; MALE; NETHERLANDS; NUCLEOTIDE SEQUENCE; POPULATION RESEARCH; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; THYROID HORMONE BLOOD LEVEL; THYROTROPIN BLOOD LEVEL; TWINS;

ADULT; AGED; DENMARK; FEMALE; HUMANS; MALE; NETHERLANDS; POLYMORPHISM, SINGLE NUCLEOTIDE; THYROID HORMONE RECEPTORS ALPHA; THYROID HORMONE RECEPTORS BETA; THYROID HORMONES; THYROTROPIN;

EID: 53649089121     PISSN: 10507256     EISSN: None     Source Type: Journal    
DOI: 10.1089/thy.2008.0236     Document Type: Article

References (34)

1. Zhang J, Lazar MA 2000 The mechanism of action of thyroid hormones. Annu Rev Physiol 62:439-466.
2. Sakurai A, Nakai A, DeGroot LJ 1990 Structural analysis of human thyroid hormone receptor beta gene. Mol Cell Endocrinol 71:83-91.
3. Laudet V, Begue A, Henry-Duthoit C, Joubel A, Martin P, Stehelin D, Saule S 1991 Genomic organization of the human thyroid hormone receptor alpha (c-erbA-1) gene. Nucleic Acids Res 19:1105-1112.
4. Williams GR 2000 Cloning and characterization of two novel thyroid hormone receptor beta isoforms. Mol Cell Biol 20:8329-8342.
5. Cheng SY 2005 Thyroid hormone receptor mutations and disease: beyond thyroid hormone resistance. Trends Endocrinol Metab 16:176-182.
6. Abel ED, Ahima RS, Boers ME, Elmquist JK, Wondisford FE 2001 Critical role for thyroid hormone receptor beta2 in the regulation of paraventricular thyrotropin-releasing hormone neurons. J Clin Invest 107:1017-1023.
7. Adams M, Matthews C, Collingwood TN, Tone Y, Beck-Peccoz P, Chatterjee KK 1994 Genetic analysis of 29 kindreds with generalized and pituitary resistance to thyroid hormone. Identification of thirteen novel mutations in the thyroid hormone receptor beta gene. J Clin Invest 94:506-515.
8. Beck-Peccoz P, Persani L, Calebiro D, Bonomi M, Mannavola D, Campi I 2006 Syndromes of hormone resistance in the hypothalamic-pituitary-thyroid axis. Best Pract Res Clin Endocrinol Metab 20:529-546.
9. Andersen S, Pedersen KM, Bruun NH, Laurberg P 2002 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 87:1068-1072.
10. Hansen PS, Brix TH, Sorensen TI, Kyvik KO, Hegedus L 2004 Major genetic influence on the regulation of the pituitary-thyroid axis: a study of healthy Danish twins. J Clin Endocrinol Metab 89:1181-1187.
11. Meikle AW, Stringham JD, Woodward MG, Nelson JC 1988 Hereditary and environmental influences on the variation of thyroid hormones in normal male twins. J Clin Endocrinol Metab 66:588-592.
12. Martin LJ, Crawford MH 1998 Genetic and environmental components of thyroxine variation in Mennonites from Kansas and Nebraska. Hum Biol 70:745-760.
13. Samollow PB, Perez G, Kammerer CM, Finegold D, Zwartjes PW, Havill LM, Comuzzie AG, Mahaney MC, Goring HH, Blangero J, Foley TP, Barmada MM 2004 Genetic and environmental influences on thyroid hormone variation in Mexican Americans. J Clin Endocrinol Metab 89:3276-3284.
14. Panicker V, Wilson SG, Spector TD, Brown SJ, Falchi M, Richards JB, Surdulescu GL, Lim EM, Fletcher SJ, Walsh JP 2007 Heritability of serum TSH, free T4 and free T3 concentrations: a study of a large UK twin cohort. Clin Endocrinol (Online accepted articles).
15. Peeters RP, van den Beld AW, Attalki H, Toor H, de Rijke YB, Kuiper GG, Lamberts SW, Janssen JA, Uitterlinden AG, Visser TJ 2005 A new polymorphism in the type II deiodinase gene is associated with circulating thyroid hormone parameters. Am J Physiol Endocrinol Metab 289:E75-E81.
16. Peeters RP, van den Beld AW, van Toor H, Uitterlinden AG, Janssen JA, Lamberts SW, Visser TJ 2005 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 90:256-263.
17. Peeters RP, van Toor H, Klootwijk W, de Rijke YB, Kuiper GG, Uitterlinden AG, Visser TJ 2003 Polymorphisms in thyroid hormone pathway genes are associated with plasma TSH and iodothyronine levels in healthy subjects. J Clin Endocrinol Metab 88:2880-2888.
18. Hansen PS, van der Deure WM, Peeters RP, Iachine I, Fenger M, Sorensen TI, Kyvik KO, Visser TJ, Hegedus L 2007 The impact of a TSH receptor gene polymorphism on thyroid-related phenotypes in a healthy Danish twin population. Clin Endocrinol 66:827-832.
19. van der Deure WM, Peeters RP, Visser TJ 2007 Genetic variation in thyroid hormone transporters. Best Pract Res Clin Endocrinol Metab 21:339-350.
20. Hansen PS, Brix TH, Iachine I, Sorensen TI, Kyvik KO, Hegedus L 2007 Genetic and environmental interrelations between measurements of thyroid function in a healthy Danish twin population. Am J Physiol Endocrinol Metab 292:E765-E770.
21. Benyamin B, Sorensen TI, Schousboe K, Fenger M, Visscher PM, Kyvik KO 2007 Are there common genetic and environmental factors behind the endophenotypes associated with the metabolic syndrome? Diabetologia 50:1880-1888.
22. de Jong FJ, Peeters RP, den Heijer T, van der Deure WM, Hofman A, Uitterlinden AG, Visser TJ, Breteler MM 2007 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 92:636-640.
23. Breteler MM 2000 Vascular involvement in cognitive decline and dementia. Epidemiologic evidence from the Rotterdam Study and the Rotterdam Scan Study. Ann N Y Acad Sci 903:457-465.
24. Visser TJ, Docter R, Hennemann G 1977 Radioimmunoassay of reverse tri-iodothyronine. J Endocrinol 73:395-396.
25. Neale MC, Maes HH 2002 Methodology for genetic studies of twins and families. Kluwer Academic Publishers BV, Dordrecht, The Netherlands.
26. Neale MC, Boker SM, Xie G, Maes HH 2002 Mx: Statistical Modeling, sixth edition. VCU Box 900126, Richmond, VA. Department of Psychiatry.
27. Feng J, Yan J, Michaud S, Craddock N, Jones IR, Cook EH, Jr., Goldman D, Heston LL, Peltonen L, Delisi LE, Sommer SS 2001 Scanning of estrogen receptor alpha (ERalpha) and thyroid hormone receptor alpha (TRalpha) genes in patients with psychiatric diseases: four missense mutations identified in ERalpha gene. Am J Med Genet 105:369-374.
28. Onda M, Li D, Suzuki S, Nakamura I, Takenoshita S, Brogren CH, Stampanoni S, Rampino N 2002 Expansion of microsatellite in the thyroid hormone receptor-alpha1 gene linked to increased receptor expression and less aggressive thyroid cancer. Clin Cancer Res 8:2870-2874.
29. Baida A, Farrington SM, Galofre P, Marcos R, Velazquez A 2005 Thyroid cancer susceptibility and THRA1 and BAT-40 repeats polymorphisms. Cancer Epidemiol Biomarkers Prev 14:638-642.
30. Tinnikov A, Nordstrom K, Thoren P, Kindblom JM, Malin S, Rozell B, Adams M, Rajanayagam O, Pettersson S, Ohlsson C, Chatterjee K, Vennstrom B 2002 Retardation of postnatal development caused by a negatively acting thyroid hormone receptor alpha1. EMBO J 21:5079-5087.
31. Venero C, Guadano-Ferraz A, Herrero AI, Nordstrom K, Manzano J, de Escobar GM, Bernal J, Vennstrom B 2005 Anxiety, memory impairment, and locomotor dysfunction caused by a mutant thyroid hormone receptor alpha1 can be ameliorated by T3 treatment. Genes Dev 19:2152-2163.
32. Weissel M 2006 Disturbances of thyroid function in the elderly. Wien Klin Wochenschr 118:16-20.
33. Mariotti S, Franceschi C, Cossarizza A, Pinchera A 1995 The aging thyroid. Endocr Rev 16:686-715.
34. Arnaud-Lopez L, Usala G, Ceresini G, Mitchell BD, Pilia MG, Piras MG, et al. 2008 Phosphodiesterase 8B gene variants are associated with serum TSH levels and thyroid function. Am J Hum Genet 82:1270-1280.