Best Practice & Research Clinical Endocrinology & Metabolism
Volume 21, Issue 2 , Pages 339-350 , June 2007

Genetic variation in thyroid hormone transporters

  • Wendy M. van der Deure, MD

      Affiliations

    • Corresponding Author InformationCorresponding author. Department of Internal Medicine, Room Ee 500, Erasmus University Medical Center, Dr. Molewaterplein 50, 3015 GE Rotterdam, The Netherlands. Tel.: +31 10 4087415; Fax: +31 10 4635430.
    • ,
  • Robin P. Peeters, MD, PhD
    • ,
  • Theo J. Visser, PhD

References 

  1. Yen PM. Physiological and molecular basis of thyroid hormone action. Physiological Reviews. 2001;81:1097–1142
  2. Bianco AC, Salvatore D, Gereben B, et al. Biochemistry, cellular and molecular biology, and physiological roles of the iodothyronine selenodeiodinases. Endocrine Reviews. 2002;23:38–89
  3. Friesema EC, Ganguly S, Abdalla A, et al. Identification of monocarboxylate transporter 8 as a specific thyroid hormone transporter. The Journal of Biological Chemistry. 2003;278:40128–40135
  4. Friesema EC, Jachtenberg JW, Jansen J, et al. Human monocarboxylate transporter 10 does transport thyroid hormone. Thyroid. 2006;16:913;P 167
  5. Konig J, Seithel A, Gradhand U, et al. Pharmacogenomics of human OATP transporters. Naunyn-Schmiedeberg's Archives of Pharmacology. 2006;372:432–443
  6. Andersen S, Pedersen KM, Bruun NH, et al. Narrow individual variations in serum T(4) and T(3) in normal subjects: a clue to the understanding of subclinical thyroid disease. The Journal of Clinical Endocrinology and Metabolism. 2002;87:1068–1072
  7. Hansen PS, Brix TH, Sorensen TI, et al. Major genetic influence on the regulation of the pituitary-thyroid axis: a study of healthy Danish twins. The Journal of Clinical Endocrinology and Metabolism. 2004;89:1181–1187
  8. Samollow PB, Perez G, Kammerer CM, et al. Genetic and environmental influences on thyroid hormone variation in Mexican Americans. The Journal of Clinical Endocrinology and Metabolism. 2004;89:3276–3284
  9. Toft AD. Clinical practice. Subclinical hyperthyroidism. The New England Journal of Medicine. 2001;345:512–516
  10. Cooper DS. Clinical practice. Subclinical hypothyroidism. The New England Journal of Medicine. 2001;345:260–265
  11. Knudsen N, Laurberg P, Rasmussen LB, et al. Small differences in thyroid function may be important for body mass index and the occurrence of obesity in the population. The Journal of Clinical Endocrinology and Metabolism. 2005;90:4019–4024
  12. 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. The Journal of Clinical Endocrinology and Metabolism. 2003;88:2880–2888
  13. Peeters RP, van den Beld AW, van Toor H, et al. A polymorphism in type I deiodinase is associated with circulating free insulin-like growth factor I levels and body composition in humans. The Journal of Clinical Endocrinology and Metabolism. 2005;90:256–263
  14. Peeters RP, van der Deure WM, Visser TJ. Genetic variation in thyroid hormone pathway genes; polymorphisms in the TSH receptor and the iodothyronine deiodinases. European Journal of Endocrinology. 2006;155:655–662
  15. Hennemann G, Docter R, Friesema EC, et al. Plasma membrane transport of thyroid hormones and its role in thyroid hormone metabolism and bioavailability. Endocrine Reviews. 2001;22:451–476
  16. Friesema EC, Docter R, Moerings EP, et al. Identification of thyroid hormone transporters. Biochemical and Biophysical Research Communications. 1999;254:497–501
  17. Friesema EC, Docter R, Moerings EP, et al. Thyroid hormone transport by the heterodimeric human system L amino acid transporter. Endocrinology. 2001;142:4339–4348
  18. Ritchie JW, Peter GJ, Shi YB, et al. Thyroid hormone transport by 4F2hc-IU12 heterodimers expressed in Xenopus oocytes. The Journal of Endocrinology. 1999;163:R5–R9
  19. Ho RH, Leake BF, Roberts RL, et al. Ethnicity-dependent polymorphism in Na+-taurocholate cotransporting polypeptide (SLC10A1) reveals a domain critical for bile acid substrate recognition. The Journal of Biological Chemistry. 2004;279:7213–7222
  20. Boado RJ, Li JY, Wise P, et al. Human LAT1 single nucleotide polymorphism N230K does not alter phenylalanine transport. Molecular Genetics and Metabolism. 2004;83:306–311
  21. Hagenbuch B, Meier PJ. The superfamily of organic anion transporting polypeptides. Biochimica et Biophysica Acta. 2003;1609:1–18
  22. Hsiang B, Zhu Y, Wang Z, et al. A novel human hepatic organic anion transporting polypeptide (OATP2). Identification of a liver-specific human organic anion transporting polypeptide and identification of rat and human hydroxymethylglutaryl-CoA reductase inhibitor transporters. The Journal of Biological Chemistry. 1999;274:37161–37168
  23. Konig J, Cui Y, Nies AT, et al. A novel human organic anion transporting polypeptide localized to the basolateral hepatocyte membrane. American Journal of Physiology. Gastrointestinal and Liver Physiology. 2000;278:G156–G164
  24. Pizzagalli F, Hagenbuch B, Stieger B, et al. Identification of a novel human organic anion transporting polypeptide as a high affinity thyroxine transporter. Molecular Endocrinology. 2002;16:2283–2296
  25. Lee W, Glaeser H, Smith LH, et al. Polymorphisms in human organic anion-transporting polypeptide 1A2 (OATP1A2): implications for altered drug disposition and central nervous system drug entry. The Journal of Biological Chemistry. 2005;280:9610–9617
  26. Kullak-Ublick GA, Ismair MG, Stieger B, et al. Organic anion-transporting polypeptide B (OATP-B) and its functional comparison with three other OATPs of human liver. Gastroenterology. 2001;120:525–533
  27. Fujiwara K, Adachi H, Nishio T, et al. Identification of thyroid hormone transporters in humans: different molecules are involved in a tissue-specific manner. Endocrinology. 2001;142:2005–2012
  28. Abe T, Kakyo M, Tokui T, et al. Identification of a novel gene family encoding human liver-specific organic anion transporter LST-1. The Journal of Biological Chemistry. 1999;274:17159–17163
  29. Abe T, Unno M, Onogawa T, et al. LST-2, a human liver-specific organic anion transporter, determines methotrexate sensitivity in gastrointestinal cancers. Gastroenterology. 2001;120:1689–1699
  30. Mikkaichi T, Suzuki T, Onogawa T, et al. Isolation and characterization of a digoxin transporter and its rat homologue expressed in the kidney. Proceedings of the National Academy of Sciences of the United States of America. 2004;101:3569–3574
  31. Suzuki T, Onogawa T, Asano N, et al. Identification and characterization of novel rat and human gonad-specific organic anion transporters. Molecular Endocrinology. 2003;17:1203–1215
  32. Kullak-Ublick GA, Hagenbuch B, Stieger B, et al. Molecular and functional characterization of an organic anion transporting polypeptide cloned from human liver. Gastroenterology. 1995;109:1274–1282
  33. Cui Y, Konig J, Leier I, et al. Hepatic uptake of bilirubin and its conjugates by the human organic anion transporter SLC21A6. The Journal of Biological Chemistry. 2001;276:9626–9630
  34. Tirona RG, Leake BF, Wolkoff AW, et al. Human organic anion transporting polypeptide-C (SLC21A6) is a major determinant of rifampin-mediated pregnane X receptor activation. The Journal of Pharmacology and Experimental Therapeutics. 2003;304:223–228
  35. Jansen J, Friesema EC, Milici C, et al. Thyroid hormone transporters in health and disease. Thyroid. 2005;15:757–768
  36. Neuvonen PJ, Niemi M, Backman JT. Drug interactions with lipid-lowering drugs: Mechanisms and clinical relevance. Clinical Pharmacology & Therapeutics. 2006;80:565–581
  37. Smith NF, Figg WD, Sparreboom A. Role of the liver-specific transporters OATP1B1 and OATP1B3 in governing drug elimination. Expert Opinion on Drug Metabolism & Toxicology. 2005;1:429–445
  38. Badagnani I, Castro RA, Taylor TR, et al. Interaction of methotrexate with organic-anion transporting polypeptide 1A2 and its genetic variants. The Journal of Pharmacology and Experimental Therapeutics. 2006;318:521–529
  39. van der Deure WM, Peeters RP, De Jong FJ, et al. The Val174Ala polymorphism in the SLCO1B1 gene is associated with serum thyroid parameters. Thyroid. 2006;16(913-914):P168
  40. Ieiri I, Suzuki H, Kimura M, et al. Influence of common variants in the pharmacokinetic genes (OATP-C, UGT1A1, and MRP2) on serum bilirubin levels in healthy subjects. Hepatology Research. 2004;30:91–95
  41. Lim CF, Docter R, Visser TJ, et al. Inhibition of thyroxine transport into cultured rat hepatocytes by serum of nonuremic critically ill patients: effects of bilirubin and nonesterified fatty acids. The Journal of Clinical Endocrinology and Metabolism. 1993;76:1165–1172
  42. Nehlig A, Pereira de Vasconcelos A. Glucose and ketone body utilization by the brain of neonatal rats. Progress in Neurobiology. 1993;40:163–221
  43. Halestrap AP, Meredith D. The SLC16 gene family-from monocarboxylate transporters (MCTs) to aromatic amino acid transporters and beyond. Pflugers Archiv. 2004;447:619–628
  44. Murakami Y, Kohyama N, Kobayashi Y, et al. Functional characterization of human monocarboxylate transporter 6 (SLC16A5). Drug Metabolism and Disposition. 2005;33:1845–1851
  45. Lafreniere RG, Carrel L, Willard HF. A novel transmembrane transporter encoded by the XPCT gene in Xq13.2. Human Molecular Genetics. 1994;3:1133–1139
  46. Friesema EC, Kuiper GG, Jansen J, et al. Thyroid hormone transport by the human monocarboxylate transporter 8 and its rate-limiting role in intracellular metabolism. Molecular Endocrinology. 2006;20:2761–2772
  47. Friesema EC, Grueters A, Biebermann H, et al. Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation. Lancet. 2004;364:1435–1437
  48. Dumitrescu AM, Liao XH, Best TB, et al. A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene. American Journal of Human Genetics. 2004;74:168–175
  49. Dominguez-Gerpe L, Fungueiro-Iglesias MJ, Vieitez-Rodriguez O, et al. Study of a possible association between serum levels of T4, T3 or TSH and the SNP S33P of the monocarboxylate transporter 8 (MCT8). Thyroid. 2006;16(883-884):P78
  50. Kim DK, Kanai Y, Matsuo H, et al. The human T-type amino acid transporter-1: characterization, gene organization, and chromosomal location. Genomics. 2002;79:95–103
  51. Saravanan P, Chau WF, Roberts N, et al. Psychological well-being in patients on ‘adequate’ doses of l-thyroxine: results of a large, controlled community-based questionnaire study. Clinical Endocrinology. 2002;57:577–585
  52. Schuit SC, Oei HH, Witteman JC, et al. Estrogen receptor alpha gene polymorphisms and risk of myocardial infarction. JAMA: The Journal of the American Medical Association. 2004;291:2969–2977
  53. van Rossum EF, Voorhoeve PG, te Velde SJ, et al. The ER22/23EK polymorphism in the glucocorticoid receptor gene is associated with a beneficial body composition and muscle strength in young adults. The Journal of Clinical Endocrinology and Metabolism. 2004;89:4004–4009

PII: S1521-690X(07)00027-9

doi: 10.1016/j.beem.2007.03.006

Best Practice & Research Clinical Endocrinology & Metabolism
Volume 21, Issue 2 , Pages 339-350 , June 2007

Article Tools

* Image Usage & Resolution