The First-Ever Investigation of SNP rs119461977 in SECISBP2/SBP2 Gene and its Implications for Hypothyroidism: A Novel Case–Control Research

Abdel-Gayoum AA. Dyslipidemia and serum mineral profiles in patients with thyroid disorders. Saudi Med J. 2014;35(12):1469–76.

PubMed  PubMed Central  Google Scholar 

Abrams JJ, Grundy SM. Cholesterol metabolism in hypothyroidism and hyperthyroidism in man. J Lipid Res. 1981;22(2):323–38. https://doi.org/10.1016/S0022-2275(20)35375-X.

Article  CAS  PubMed  Google Scholar 

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(3):1068–72. https://doi.org/10.1210/jcem.87.3.8165.

Article  CAS  PubMed  Google Scholar 

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(6):1270–80. https://doi.org/10.1016/j.ajhg.2008.04.019.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Azevedo MF, Barra GB, Naves LA, Ribeiro Velasco LF, Godoy GCP, de Castro LC, et al. Selenoproteins-related disease in a young girl caused by nonsense mutations in the SBP2 gene. J Clin Endocrinol Metab. 2010;95(8):4066–71. https://doi.org/10.1210/jc.2009-2611.

Article  CAS  PubMed  Google Scholar 

Bansal A, Kaushik A, Singh C, Sharma V, Singh H. The effect of regular physical exercise on the thyroid function of treated hypothyroid patients: an interventional study at a tertiary care centre in Bastar region of India. Arch Med Health Sci. 2015;3(2):244–6. https://doi.org/10.4103/2321-4848.171913.

Article  Google Scholar 

Berry MJ, Banu L, Chen YY, Mandel SJ, Kieffer JD, Harney JW, Larsen PR. Recognition of UGA as a selenocysteine codon in type I deiodinase requires sequences in the 3’ untranslated region. Nature. 1991;353(6341):273–6. https://doi.org/10.1038/353273a0.

Article  ADS  CAS  PubMed  Google Scholar 

Chung GE, Kim D, Kim W, Yim JY, Park MJ, Kim YJ, Yoon JH, Lee HS. Non-alcoholic fatty liver disease across the spectrum of hypothyroidism. J Hepatol. 2012;57(1):150–6. https://doi.org/10.1016/j.jhep.2012.02.027.

Article  CAS  PubMed  Google Scholar 

Copeland PR, Fletcher JE, Carlson BA, Hatfield DL, Driscoll DM. A novel RNA binding protein SBP2 is required for the translation of mammalian selenoprotein mRNAs. EMBO J. 2000;19(2):306–14. https://doi.org/10.1093/emboj/19.2.306.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Cosmo C, McLellan N, Liao XH, Khanna KK, Weiss RE, Papp L, et al. Clinical and molecular characterization of a novel selenocysteine insertion sequence-binding protein 2 (SBP2) gene mutation (R128X). J Clin Endocrinol Metab. 2009;94(10):4003–9. https://doi.org/10.1210/jc.2009-0686.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Dumitrescu AM, Liao XH, Abdullah MS, Lado-Abeal J, Majed FA, Moeller LC, et al. Mutations in SECISBP2 result in abnormal thyroid hormone metabolism. Nat Genet. 2005;37(11):1247–52. https://doi.org/10.1038/ng1654.

Article  CAS  PubMed  Google Scholar 

Fonseca TL, Correa-Medina M, Campos MP, Wittmann G, Werneck-de-Castro JP, Arrojo e Drigo R, et al. Coordination of hypothalamic and pituitary T3 production regulates TSH expression. J Clin Invest. 2013;123(4):1492–500. https://doi.org/10.1172/jci61231.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Fu J, Korwutthikulrangsri M, Gönç EN, Sillers L, Liao XH, Alikaşifoğlu A, et al. Clinical and molecular analysis in 2 families with novel compound heterozygous SBP2 (SECISBP2) mutations. J Clin Endocrinol Metab. 2020;105(3):6–11. https://doi.org/10.1210/clinem/dgz169.

Article  Google Scholar 

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. https://doi.org/10.1111/j.1365-2265.2007.02820.x.

Article  CAS  PubMed  Google Scholar 

Kaur V, Singh K, Verma M. Changes in biochemical markers of renal function in subclinical and overt hypothyroidism. Int J Bioassays. 2015;4(04):3799–802. https://doi.org/10.4103/jfmpc.jfmpc_757_20.

Article  CAS  Google Scholar 

Kent WJ, Sugnet CW, Furey TS, Roskin KM, Pringle TH, Zahler AM, Haussler D. The human genome browser at UCSC. Genome Res. 2002;12(6):996–1006. https://doi.org/10.1101/gr.229102.

Article  CAS  PubMed  PubMed Central  Google Scholar 

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. J Clin Endocrinol Metab. 2005;90(7):4019–24. https://doi.org/10.1210/jc.2004-2225.

Article  CAS  PubMed  Google Scholar 

Koressaar T, Lepamets M, Kaplinski L, Raime K, Andreson R, Remm M. Primer3_masker: integrating masking of template sequence with primer design software. Bioinformatics. 2018;34(11):1937–8. https://doi.org/10.1093/bioinformatics/bty036.

Article  CAS  PubMed  Google Scholar 

Krishnan PV, Vadivu AS, Alappatt A, Kameswaran M. Prevalence of sleep abnormalities and their association among hypothyroid patients in an Indian population. Sleep Med. 2012;13(10):1232–7. https://doi.org/10.1016/j.sleep.2012.07.006.

Article  PubMed  Google Scholar 

Ludwig U, Holzner D, Denzer C, Greinert A, Haenle MM, Oeztuerk S, et al. EMIL-Study. subclinical and clinical hypothyroidism and non-alcoholic fatty liver disease: a cross-sectional study of a random population sample aged 18 to 65 years. BMC Endocr Disord. 2015;15:41. https://doi.org/10.1186/s12902-015-0030-5.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Malamos B, Sfikakis P, Pandos P. The renal handling of phosphate in thyroid disease. J Endocrinol. 1969;45(2):269–73. https://doi.org/10.1677/joe.0.0450269.

Article  CAS  PubMed  Google Scholar 

Marwaha RK, Tandon N, Garg MK, Kanwar R, Sastry A, Narang A, et al. Dyslipidemia in subclinical hypothyroidism in an Indian population. Clin Biochem. 2011;44(15):1214–7. https://doi.org/10.1016/j.clinbiochem.2011.07.003.

Article  CAS  PubMed  Google Scholar 

Miller A, Dykes D, Polesky F. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 1988;16(3):12–5. https://doi.org/10.1093/nar/16.3.1215.

Article  Google Scholar 

Ministry of health and family welfare. 2022. https://pib.gov.in/PressReleasePage.aspx?PRID=1796440/Status of goiter or thyroid disorders in india. Accessed on 8 Feb, 2022 [Accessed 16 June 2023]

Mullenbach GT, Tabrizi A, Irvine BD, Bell GI, Tainer JA, Hallewell RA. Selenocysteine’s mechanism of incorporation and evolution revealed in cDNAs of three glutathione peroxidases. Protein Eng J. 1988;2:239–46. https://doi.org/10.1093/protein/2.3.239.

Article  CAS  Google Scholar 

Nikkila EA, Kekki M. Plasma triglyceride metabolism in thyroid disease. J Clin Invest. 1972;51(8):2103–14. https://doi.org/10.1172/JCI107017.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Panicker V. Genetics of thyroid function and disease. Clin Biochem Rev. 2011;32(4):165–75.

PubMed  PubMed Central  Google Scholar 

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(8):3075–81. https://doi.org/10.1210/jc.2008-0397.

Article  CAS  PubMed  PubMed Central  Google Scholar 

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(4):652–9. https://doi.org/10.1111/j.1365-2265.2007.03079.x.

Article  CAS  PubMed  Google Scholar 

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(3):430–5. https://doi.org/10.1016/j.ajhg.2010.08.005.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Papp LV, Lu J, Holmgren A, Khanna KK. From selenium to selenoproteins: synthesis, identity, and their role in human health. Antioxid Redox Signal. 2007;9(7):775–806. https://doi.org/10.1089/ars.2007.1528.

Article  CAS  PubMed  Google Scholar 

Pearce EN, Wilson PW, Yang Q, Vasan RS, Braverman LE. Thyroid function and lipid subparticle sizes in patients with short-term hypothyroidism and a population-based cohort. J Clin Endocrinol Metab. 2008;93(3):888–94. https://doi.org/10.1210/jc.2007-1987.

Article  CAS  PubMed  Google Scholar 

Rosenbaum M, Hirsch J, Murphy E, Leibel RL. Effects of changes in body weight on carbohydrate metabolism, catecholamine excretion, and thyroid function. Am J Clin Nutr. 2000;71(6):1421–32. https://doi.org/10.1093/ajcn/71.6.1421.

Article  CAS  PubMed  Google Scholar 

Sabuncu T, Aksoy N, Arikan E, Ugur B, Tasan E, Hatem

留言 (0)

沒有登入
gif