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Original Articles

The Role of Vitamin D Receptor Gene Polymorphisms in Thyroid-Associated Orbitopathy

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Pages 354-361 | Received 04 Mar 2019, Accepted 05 Jun 2019, Published online: 19 Aug 2019

References

  • Burch HB, Wartofsky L. Graves’ Ophthalmopathy: current concepts regarding pathogenesis and management. Endocr Rev. 1993;14:747–793. doi:10.1210/edrv-14-6-747.
  • Kendall-Taylor P, Perros P. Clinical presentation of thyroid associated orbitopathy. Thyroid. 1998;8(5):427–428. doi:10.1089/thy.1998.8.427.
  • Bartalena L, Baldeschi L, Dickinson A, et al. Consensus statement of the European Group on Graves’ orbitopathy (EUGOGO) on management of GO. Eur J Endocrinol. 2008;158(3):273–285. doi:10.1530/EJE-07-0666.
  • Bahn RS. Current insights into the pathogenesis of graves’ ophthalmopathy. Horm Metab Res. 2015;47(10):773–778. doi:10.1055/s-00000025.
  • Bednarczuk T, Gopinath B, Ploski R, Wall JR. Susceptibility genes in Graves’ ophthalmopathy: searching for a needle in a haystack? Clin Endocrinol (Oxf). 2007;67:3–19. doi:10.1111/j.1365-2265.2007.02854.x.
  • Wong KH, Rong SS, Chong KK, Young AL, Pang CP, Chen LJ. Genetic associations of interleukin-related genes with graves’ ophthalmopathy: a systematic review and meta-analysis. Sci Rep. 2015;5:16672. doi:10.1038/srep16672.
  • Altieri B, Muscogiuri G, Barrea L, et al. Does vitamin D play a role in autoimmune endocrine disorders? A proof of concept. Rev Endocr Metab Disord. 2017;18(3):335–346. doi:10.1007/s11154-016-9405-9.
  • Wang S, Wu Y, Zuo Z, et al. The effect of vitamin D supplementation on thyroid autoantibody levels in the treatment of autoimmune thyroiditis: a systematic review and a meta-analysis. Endocrine. 2018;59(3):499–505. doi:10.1007/s12020-018-1532-5.
  • Kawakami-Tani T, Fukawa E, Tanaka H, Abe Y, Makino I. Effect of a alpha-hydroxyvitamin D3 on serum levels of thyroid hormones in hyperthyroidism patients with untreated Graves’ disease. Metabolism. 1997;46:1184–1188.
  • Hossein-Nezhad A, Spira A, Holick MF, Campbell M. Influence of vitamin D status and vitamin D3 supplementation on genome wide expression of white blood cells: a randomized double-blind clinical trial. PLoS One. 2013;8(3):e58725. doi:10.1371/journal.pone.0058725.
  • Gao XR, Yu YG. Meta-analysis of the association between vitamin d receptor polymorphisms and the risk of autoimmune thyroid disease. Int J Endocrinol. 2018;2018:2846943.
  • Meyer V, Bornman L. Cdx-2 polymorphism in the vitamin D receptor gene (VDR) marks VDR expression in monocyte/macrophages through VDR promoter methylation. Immunogenetics. 2018;70(8):523–532. doi:10.1007/s00251-018-1063-5.
  • Werner SC. Modification of the classification of the eye changes of Graves’ disease. Am J Ophthalmol. 1977;83:725–772.
  • Mourits MP, Prummel MF, Wiersinga WM, Koornnee L. Clinical activity score as a guide in the management of patients with Graves’ ophthalmopathy. Clin Endocrinol (Oxf). 1997;47:9–14.
  • Harris SS, Eccleshall TR, Gross C, Dawson-Hughes B, Feldman D. The vitamin D receptor start codon polymorphism (FokI) and bone mineral density in premenopausal American black and white women. J Bone Miner Res. 1997;12:1043–1048. doi:10.1359/jbmr.1997.12.7.1043.
  • Ozaki Y, Nomura S, Nagahama M, Yoshimura C, Kagawa H, Fukuhara S. Vitamin-D receptor genotype and renal disorder in Japanese patients with systemic lupus erythematosus. Nephron. 2000;85(1):86–91. doi:10.1159/000045635.
  • Oh JY, Barrett-Connor E. Association between vitamin D receptor polymorphism and type 2 diabetes or metabolic syndrome in community-dwelling older adults: the Rancho Bernardo Study. Metabolism. 2002;51:356–359.
  • Rodriguez S, Tr G, In D. Hardy-Weinberg equilibrium testing of biological ascertainment for Mendelian randomization studies. Am J Epidemiol. 2009;169(4):505–514. doi:10.1093/aje/kwn359.
  • Barrett JC, Fry B, Maller J, Daly MJ. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics. 2005;21(2):263–265. doi:10.1093/bioinformatics/bth457.
  • Gabriel SB, Schaffner SF, Nguyen H, et al. The structure of haplotype blocks in the human genome. Science. 2002;296(5576):2225–2229. doi:10.1126/science.1069424.
  • Wang J, Lv S, Chen G, et al. Meta-analysis of the association between vitamin D and autoimmune thyroid disease. Nutrients. 2015;7(4):2485–2498. doi:10.3390/nu7042485.
  • Xu MY, Cao B, Yin J, Wang DF, Chen KL, Lu QB. Vitamin D and Graves’ disease: a meta-analysis update. Nutrients. 2015;7(5):3813–3827. doi:10.3390/nu7053813.
  • Sheriba N, Abu Shady MM, Abdelsalam MM, Eliwa TF. Vitamin D levels in Graves’ disease with and without exophthalmos: a case control study. Endocr Abstr. 2016;41:EP1004.
  • Lahooti H, Wise B, Tjiang H, Champion B, Wall J. Vitamin D deficiency may be a risk factor for ophthalmopathy in patients with Graves’ hyperthyroidism but not hashimoto’s thyroiditis. Ophthalmol Res An Int J. 2014;2(1):10–17. doi:10.9734/OR/2014/4795.
  • Sheriba N, Elewa AA, Mahdy MM, et al. Effect of vitamin D3 in treating hyperthyroidism in patients with graves’ disease. Egypt J Intern Med. 2017;29:64–70. doi:10.4103/ejim.ejim_10_17.
  • Aniszewski JP, Valyasevi RW, Bahn RS. Relationship between disease duration and predominant orbital T-cell subset in Graves’ ophthalmopathy. J Clin Endocrinol Metab. 2000;85:776–780.
  • Shen J, Li Z, Li W, et al. Th1, Th2, and Th17 Cytokine Involvement in Thyroid Associated Ophthalmopathy. Dis Markers. 2015;2015:609593. doi:10.1155/2015/105358.
  • Lehmann GM, Feldon SE, Smith TJ, Phipps RP. Immune mechanisms in thyroid eye disease. Thyroid. 2008;18(9):959–965. doi:10.1089/thy.2007.0407.
  • Joshi S, Pantalena LC, Liu XK, et al. 1,25-dihydroxyvitamin D(3) ameliorates Th17 autoimmunity via transcriptional modulation of interleukin-17A. Mol Cell Biol. 2011;31:3653–3669. doi:10.1128/MCB.05020-11.
  • Daniel C, Sartory NA, Zahn N, Radeke HH, Stein JM. Immune modulatory treatment of trinitrobenzene sulfonic acid colitis with calcitriol is associated with a change of a T helper (Th) 1/Th17 to a Th2 and regulatory T cell profile. J Pharmacol Exp Ther. 2008;324:23–33. doi:10.1124/jpet.107.127209.
  • Korf H, Wenes M, Stijlemans B, et al. 1,25-Dihydroxyvitamin D3 curtails the inflammatory and T cell stimulatory capacity of macrophages through an IL-10-dependent mechanism. Immunobiology. 2012;217(12):1292–1300. doi:10.1016/j.imbio.2012.07.018.
  • Chen S, Sims GP, Chen XX, Gu YY, Chen S, Lipsky PE. Modulatory effects of 1,25-dihydroxyvitamin D3 on human B cell differentiation. J Immunol. 2007;179:1634–1647. doi:10.4049/jimmunol.179.3.1634.
  • Wang G, Zhang Q, Xu N, et al. Associations between two polymorphisms (FokI and BsmI) of vitamin D receptor gene and type 1 diabetes mellitus in Asian population: a meta-analysis. PLoS One. 2014;9(3):e89325. doi:10.1371/journal.pone.0089325.
  • Song GG, Bae SC, Lee YH. Vitamin D receptor FokI, BsmI, and TaqI polymorphisms and susceptibility to rheumatoid arthritis: A meta-analysis. Z Rheumatol. 2016;75(3):322–329. doi:10.1007/s00393-015-1581-6.
  • Mao S, Huang S. Association between vitamin D receptor gene BsmI, FokI, ApaI and TaqI polymorphisms and the risk of systemic lupus erythematosus: a meta-analysis. Rheumatol Int. 2014;34(3):381–388. doi:10.1007/s00296-013-2898-6.
  • Arai H, Miyamoto K, Taketani Y, et al. A vitamin D receptor gene polymorphism in the translation initiation codon: effect on protein activity and relation to bone mineral density in Japanese women. J Bone Miner Res. 1997;12(6):915–921. doi:10.1359/jbmr.1997.12.6.915.
  • van Etten E, Verlinden L, Giulietti A, et al. The vitamin D receptor gene FokI polymorphism: functional impact on the immune system. Eur J Immunol. 2007;37(2):395–405. doi:10.1002/(ISSN)1521-4141.
  • Fang Y, van Meurs JB, d’Alesio A, et al. Promoter and 3ʹ-untranslated-region haplotypes in the vitamin d receptor gene predispose to osteoporotic fracture: the rotterdam study. Am J Hum Genet. 2005;77(5):807–823. doi:10.1086/497438.
  • Clark AG. The role of haplotypes in candidate gene studies. Genet Epidemiol. 2004;27(4):321–333. doi:10.1002/gepi.20025.
  • Lin WY, Wan L, Tsai CH, Chen RH, Lee CC, Tsai FJ. Vitamin D receptor gene polymorphisms are associated with risk of Hashimoto’s thyroiditis in Chinese patients in Taiwan. J Clin Lab Anal. 2006;20(3):109–112. doi:10.1002/jcla.20110.
  • Ban Y, Taniyama M, Ban Y. Vitamin D receptor gene polymorphisms in Hashimoto’s thyroiditis. Thyroid. 2001;11(6):607–608. doi:10.1089/105072501750302967.
  • Yazici D, Yavuz D, Tarcin O, Sancak S, Deyneli O, Akalin S. Vitamin D receptor gene ApaI, TaqI, FokI and BsmI polymorphisms in a group of Turkish patients with Hashimoto’s thyroiditis. Minerva Endocrinol. 2013;38:195–201.
  • Djurovic J, Stojkovic O, Ozdemir O, et al. Association between FokI, ApaI and TaqI RFLP polymorphisms in VDR gene and Hashimoto’s thyroiditis: preliminary data from female patients in Serbia. Int J Immunogenet. 2015;42(3):190–194. doi:10.1111/iji.12199.
  • Inoue N, Watanabe M, Ishido N, et al. The functional polymorphisms of VDR, GC and CYP2R1 are involved in the pathogenesis of autoimmune thyroid diseases. Clin Exp Immunol. 2014;178(2):262–269. doi:10.1111/cei.12420.
  • Ramos-Lopez E, Kurylowicz A, Bednarczuk T, Paunkovic J, Seidl C, Badenhoop K. Vitamin D receptor polymorphisms are associated with Graves’ disease in German and Polish but not in Serbian patients. Thyroid. 2005;15(10):1125–1130. doi:10.1089/thy.2005.15.1125.
  • Chen RH, Chang CT, Chen HY, Chen WC, Tsai CH, Tsai FJ. Association between vitamin-D receptor gene FokI polymorphism and Graves’ disease among Taiwanese Chinese. J Clin Lab Anal. 2007;21(3):173–177. doi:10.1002/jcla.20163.
  • Ban Y, Ban Y, Taniyama M, Katagiri T. Vitamin D receptor initiation codon polymorphism in Japanese patients with Graves’ disease. Thyroid. 2000;10(5):375–380. doi:10.1089/thy.2000.10.375.
  • Planck T, Shahida B, Malm J, Manjer J. Vitamin D in graves disease: levels, correlation with laboratory and clinical parameters, and genetics. Eur Thyroid J. 2017;7(1):27–33. doi:10.1159/000484521.
  • Zarrin R, Bagheri M, Mehdizadeh A, et al. The association of FokI and ApaI polymorphisms in vitamin D receptor gene with autoimmune thyroid diseases in the northwest of Iran. Med J Islam Repub Iran. 2018;32:4. doi:10.14196/mjiri.32.128.
  • Meng S, He ST, Jiang WJ, et al. Genetic susceptibility to autoimmune thyroid diseases in a Chinese Han population: role of vitamin D receptor gene polymorphisms. Ann Endocrinol (Paris). 2015;76(6):684–689. doi:10.1016/j.ando.2015.01.003.
  • Guleryuz B, Akin F, Ata MT, Dalyanoglu MM, Turgut S. Vitamin-D Receptor (VDR) gene polymorphisms (TaqI, FokI) in Turkish patients with hashimoto’s thyroiditis: relationship to the levels of Vit-D and cytokines. Endocr Metab Immune Disord Drug Targets. 2016;16(2):131–139. doi:10.2174/1871530316666160728092613.
  • Collins JE, Heward JM, Nithiyananthan R, et al. Lack of association of the vitamin D receptor gene with Graves’ disease in UK Caucasians. Clin Endocrinol (Oxf). 2004;60(5):618–624. doi:10.1111/j.1365-2265.2004.02015.x.
  • Horst-Sikorska W, Ignaszak-Szczepaniak M, Marcinkowska M, Kaczmarek M, Stajgis M, Slomski R. Association analysis of vitamin D receptor gene polymorphisms with bone mineral density in young women with Graves’ disease. Acta Biochim Pol. 2008;55:371–380.
  • Maalej A, Petit-Teixeira E, Chabchoub G, et al. Lack of association of VDR gene polymorphisms with thyroid autoimmune disorders: familial and case/control studies. J Clin Immunol. 2008;28(1):21–25. doi:10.1007/s10875-007-9124-9.
  • Frederiksen B, Liu E, Romanos J, et al. Investigation of the vitamin D receptor gene (VDR) and its interaction with protein tyrosine phosphatase, non-receptor type 2 gene (PTPN2) on risk of islet autoimmunity and type 1 diabetes: the diabetes autoimmunity study in the young (DAISY). J Steroid Biochem Mol Biol. 2013;133:51–57. doi:10.1016/j.jsbmb.2012.08.012.
  • Aydıngöz IE, Bingül I, Doğru-Abbasoğlu S, Vural P, Uysal M. Analysis of vitamin D receptor gene polymorphisms in vitiligo. Dermatology. 2012;224(4):361–368. doi:10.1159/000339340.
  • Zhou X, Xu LD, Li YZ. The association of polymorphisms of the vitamin D receptor gene with psoriasis in the Han population of northeastern China. J Dermatol Sci. 2014;73(1):63–66. doi:10.1016/j.jdermsci.2013.08.014.
  • Lacka K, Paradowska A, Gasinska T, et al. Interleukin-1beta gene (IL-1beta) polymorphisms (SNP −511 and SNP +3953) in thyroid-associated ophthalmopathy (TAO) among the Polish population. Curr Eye Res. 2009;34(3):215–220. doi:10.1080/02713680802699390.
  • Şahlı E, Gündüz K. Thyroid-associated Ophthalmopathy. Turk J Ophthalmol. 2017;47(2):94–105. doi:10.4274/tjo.80688.

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