{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,10]],"date-time":"2026-01-10T08:12:08Z","timestamp":1768032728755,"version":"3.49.0"},"reference-count":37,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2018,3,15]],"date-time":"2018-03-15T00:00:00Z","timestamp":1521072000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"funder":[{"DOI":"10.13039\/501100001809","name":"the National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81573098"],"award-info":[{"award-number":["81573098"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Biol Trace Elem Res"],"published-print":{"date-parts":[[2018,11]]},"DOI":"10.1007\/s12011-018-1300-7","type":"journal-article","created":{"date-parts":[[2018,3,15]],"date-time":"2018-03-15T15:31:02Z","timestamp":1521127862000},"page":"85-90","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Association of TSHR Gene Copy Number Variation with TSH Abnormalities"],"prefix":"10.1007","volume":"186","author":[{"given":"Yi","family":"Pang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yunfeng","family":"Guan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xing","family":"Jin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8807-9897","authenticated-orcid":false,"given":"Hongmei","family":"Shen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lixiang","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qingzhen","family":"Jia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fangang","family":"Meng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaoye","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2018,3,15]]},"reference":[{"issue":"9","key":"1300_CR1","doi-asserted-by":"publisher","first-page":"1704","DOI":"10.1093\/hmg\/ddp087","volume":"18","author":"OJ Brand","year":"2009","unstructured":"Brand OJ, Barrett JC, Simmonds MJ, Newby PR, Mccabe CJ, Bruce CK, Kysela B, Carrsmith JD, Brix T, Hunt PJ (2009) Association of the thyroid stimulating hormone receptor gene (TSHR) with Graves\u2019 disease. Hum Mol Genet 18(9):1704\u20131713","journal-title":"Hum Mol Genet"},{"issue":"1\u20132","key":"1300_CR2","doi-asserted-by":"publisher","first-page":"135","DOI":"10.1016\/j.mce.2010.01.013","volume":"322","author":"OJ Brand","year":"2010","unstructured":"Brand OJ, Gough SC (2010) Genetics of thyroid autoimmunity and the role of the TSHR. Mol Cell Endocrinol 322(1\u20132):135\u2013143","journal-title":"Mol Cell Endocrinol"},{"issue":"11","key":"1300_CR3","doi-asserted-by":"publisher","first-page":"1201","DOI":"10.1089\/thy.2008.0098","volume":"18","author":"X Yin","year":"2008","unstructured":"Yin X, Latif R, Bahn R, Tomer Y, Davies TF (2008) Influence of the TSH receptor gene on susceptibility to Graves\u2019 disease and Graves\u2019 ophthalmopathy. Thyroid Off J Am Thyroid Assoc 18(11):1201\u20131206","journal-title":"Thyroid Off J Am Thyroid Assoc"},{"issue":"1","key":"1300_CR4","doi-asserted-by":"publisher","first-page":"15","DOI":"10.1186\/1471-2415-14-15","volume":"14","author":"WL Liao","year":"2014","unstructured":"Liao WL, Wan L, Wang TY, Chen CC, Tse SS, Lu CH, Tsai FJ (2014) Association of TLR7 and TSHR copy number variation with Graves\u2019 disease and Graves\u2019 ophthalmopathy in Chinese population in Taiwan. BMC Ophthalmol 14(1):15","journal-title":"BMC Ophthalmol"},{"issue":"5","key":"1300_CR5","doi-asserted-by":"crossref","first-page":"8707","DOI":"10.18632\/oncotarget.14419","volume":"8","author":"S Liu","year":"2017","unstructured":"Liu S, Wang X, Zou H, Ge Y, Wang F, Wang Y, Yan S, Xia H, Xing M (2017) Identification and characterization of novel PAX8 mutations in Congenital Hypothyroidism(CH) in a Chinese population. Oncotarget 8(5):8707\u20138716","journal-title":"Oncotarget"},{"key":"1300_CR6","doi-asserted-by":"publisher","first-page":"36","DOI":"10.1016\/j.cca.2017.04.020","volume":"470","author":"F Wang","year":"2017","unstructured":"Wang F, Liu C, Jia X, Liu X, Xu Y, Yan S, Jia X, Huang Z, Liu S, Gu M (2017) Next-generation sequencing of NKX2.1, FOXE1, PAX8, NKX2.5, and TSHR in 100 Chinese patients with congenital hypothyroidism and athyreosis. Clin Chim Acta 470:36\u201341","journal-title":"Clin Chim Acta"},{"issue":"4","key":"1300_CR7","doi-asserted-by":"publisher","first-page":"1962","DOI":"10.1210\/jc.2009-1455","volume":"95","author":"dHL Van","year":"2010","unstructured":"Van dHL, Padmos RC, Drexhage RC, De WH, Berghout A, Drexhage HA (2010) An inflammatory gene-expression fingerprint in monocytes of autoimmune thyroid disease patients. J Clin Endocrinol Metab 95(4):1962","journal-title":"J Clin Endocrinol Metab"},{"issue":"1","key":"1300_CR8","doi-asserted-by":"publisher","first-page":"68","DOI":"10.1016\/S0167-4889(01)00119-7","volume":"1540","author":"SI Takahashi","year":"2001","unstructured":"Takahashi SI, Nedachi T, Fukushima T, Umesaki K, Ito Y, Hakuno F, Van Wyk JJ, Conti M (2001) Long-term hormonal regulation of the cAMP-specific phosphodiesterases in cultured FRTL-5 thyroid cells. Biochimica Et Biophysica Acta Molecular Cell Research 1540(1):68\u201381","journal-title":"Biochimica Et Biophysica Acta Molecular Cell Research"},{"issue":"8","key":"1300_CR9","doi-asserted-by":"publisher","first-page":"1114","DOI":"10.1101\/gr.187187.114","volume":"25","author":"\u017d Pezer","year":"2015","unstructured":"Pezer \u017d, Harr B, Teschke M, Babiker H, Tautz D (2015) Divergence patterns of genic copy number variation in natural populations of the house mouse (Mus musculus domesticus) reveal three conserved genes with major population-specific expansions. Genome Res 25(8):1114\u20131124","journal-title":"Genome Res"},{"issue":"7246","key":"1300_CR10","doi-asserted-by":"publisher","first-page":"569","DOI":"10.1038\/nature07953","volume":"459","author":"JT Glessner","year":"2009","unstructured":"Glessner JT, Wang K, Cai G, Korvatska O, Kim CE, Wood S, Zhang H, Estes A, Brune CW, Bradfield JP (2009) Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. Nature 459(7246):569\u2013573","journal-title":"Nature"},{"issue":"5823","key":"1300_CR11","doi-asserted-by":"publisher","first-page":"445","DOI":"10.1126\/science.1138659","volume":"316","author":"J Sebat","year":"2007","unstructured":"Sebat J, Lakshmi B, Malhotra D, Troge J, Lesemartin C, Walsh T, Yamrom B, Yoon S, Krasnitz A, Kendall J (2007) Strong association of de novo copy number mutations with autism. Science 316(5823):445\u2013449","journal-title":"Science"},{"issue":"5875","key":"1300_CR12","doi-asserted-by":"publisher","first-page":"539","DOI":"10.1126\/science.1155174","volume":"320","author":"T Walsh","year":"2008","unstructured":"Walsh T, Mcclellan JM, Mccarthy SE, Addington AM, Pierce SB, Cooper GM, Nord AS, Kusenda M, Malhotra D, Bhandari A (2008) Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. Science 320(5875):539\u2013543","journal-title":"Science"},{"issue":"7249","key":"1300_CR13","doi-asserted-by":"publisher","first-page":"987","DOI":"10.1038\/nature08035","volume":"459","author":"SJ Diskin","year":"2009","unstructured":"Diskin SJ, Hou C, Glessner JT, Attiyeh EF, Laudenslager M, Bosse K, Cole K, Moss\u00e9 YP, Wood A, Lynch JE (2009) Copy number variation at 1q21.1 associated with neuroblastoma. Nature 459(7249):987\u2013991","journal-title":"Nature"},{"issue":"6","key":"1300_CR14","doi-asserted-by":"publisher","first-page":"2176","DOI":"10.1158\/0008-5472.CAN-08-3151","volume":"69","author":"W Liu","year":"2009","unstructured":"Liu W, Sun J, Li G, Zhu Y, Zhang S, Kim ST, Sun J, Wiklund F, Wiley K, Isaacs SD (2009) Association of a germ-line copy number variation at 2p24.3 and risk for aggressive prostate cancer. Cancer Res 69(6):2176\u20132179","journal-title":"Cancer Res"},{"issue":"1","key":"1300_CR15","doi-asserted-by":"publisher","first-page":"55","DOI":"10.1097\/CCO.0b013e328333dca4","volume":"22","author":"A Shlien","year":"2010","unstructured":"Shlien A, Malkin D (2010) Copy number variations and cancer susceptibility. Curr Opin Oncol 22(1):55\u201363","journal-title":"Curr Opin Oncol"},{"issue":"6","key":"1300_CR16","doi-asserted-by":"publisher","first-page":"721","DOI":"10.1038\/ng2046","volume":"39","author":"M Fanciulli","year":"2007","unstructured":"Fanciulli M, Norsworthy PJ, Petretto E, Dong R, Harper L, Kamesh L, Heward JM, Gough SC, De SA, Blakemore AI (2007) FCGR3B copy number variation is associated with susceptibility to systemic, but not organ-specific, autoimmunity. Nat Genet 39(6):721\u2013723","journal-title":"Nat Genet"},{"issue":"10","key":"1300_CR17","doi-asserted-by":"publisher","first-page":"3375","DOI":"10.1002\/art.22916","volume":"56","author":"J Kelley","year":"2007","unstructured":"Kelley J, Johnson MR, Alarc\u00f3n GS, Kimberly RP, Edberg JC (2007) Variation in the relative copy number of the TLR7 gene in patients with systemic lupus erythematosus and healthy control subjects. Arthritis Rheum 56(10):3375\u20133378","journal-title":"Arthritis Rheum"},{"issue":"2","key":"1300_CR18","doi-asserted-by":"publisher","first-page":"155","DOI":"10.1038\/gene.2009.71","volume":"11","author":"M Mamtani","year":"2010","unstructured":"Mamtani M, Anaya JM, He W, Ahuja SK (2010) Association of copy number variation in the FCGR3B gene with risk of autoimmune diseases. Genes Immun 11(2):155\u2013160","journal-title":"Genes Immun"},{"issue":"1\u20134","key":"1300_CR19","doi-asserted-by":"publisher","first-page":"142","DOI":"10.1159\/000184701","volume":"123","author":"T Ptacek","year":"2008","unstructured":"Ptacek T, Li X, Kelley JM, Edberg JC (2008) Copy number variants in genetic susceptibility and severity of systemic lupus erythematosus. Cytogenet Genome Res 123(1\u20134):142\u2013147","journal-title":"Cytogenet Genome Res"},{"issue":"7","key":"1300_CR20","doi-asserted-by":"publisher","first-page":"1573","DOI":"10.1084\/jem.20072413","volume":"205","author":"LC Willcocks","year":"2008","unstructured":"Willcocks LC, Lyons PA, Clatworthy MR, Robinson JI, Yang W, Newland SA, Plagnol V, Mcgovern NN, Condliffe AM, Chilvers ER (2008) Copy number of FCGR3B, which is associated with systemic lupus erythematosus, correlates with protein expression and immune complex uptake. J Exp Med 205(7):1573\u20131582","journal-title":"J Exp Med"},{"issue":"4","key":"1300_CR21","doi-asserted-by":"publisher","first-page":"241","DOI":"10.1016\/j.ygeno.2009.06.004","volume":"94","author":"CH Lin","year":"2009","unstructured":"Lin CH, Lin YC, Wu JY, Pan WH, Chen YT, Fann CSJ (2009) A genome-wide survey of copy number variations in Han Chinese residing in Taiwan. Genomics 94(4):241\u2013246","journal-title":"Genomics"},{"issue":"7118","key":"1300_CR22","doi-asserted-by":"publisher","first-page":"444","DOI":"10.1038\/nature05329","volume":"444","author":"R Redon","year":"2006","unstructured":"Redon R, Ishikawa S, Fitch KR, Feuk L, Perry GH, Andrews TD, Fiegler H, Shapero MH, Carson AR, Chen W (2006) Global variation in copy number in the human genome. Nature 444(7118):444","journal-title":"Nature"},{"key":"1300_CR23","unstructured":"Yan YQ, Zhang YP, Liu LJ, Liu JY, Wei-Dong LI, Hua JL, Chen ZP, University TM, Tianjin (2004) Method for measuring iodine in urine by As3+-Ce4+ catalytic spectrophotometry using ammonium persulfate digestion. Chin J Endemiol"},{"issue":"4","key":"1300_CR24","doi-asserted-by":"publisher","first-page":"597","DOI":"10.1016\/j.ajhg.2015.02.017","volume":"96","author":"L Zhang","year":"2015","unstructured":"Zhang L, Zhou Y, Cheng C, Cui H, Cheng L (2015) Genomic analyses reveal mutational signatures and frequently altered genes in esophageal squamous cell carcinoma. Am J Hum Genet 96(4):597\u2013611","journal-title":"Am J Hum Genet"},{"issue":"8","key":"1300_CR25","doi-asserted-by":"publisher","first-page":"632","DOI":"10.1097\/RLU.0000000000000793","volume":"40","author":"YH Jeong","year":"2015","unstructured":"Jeong YH, Kim D, Lee JW, Rhee Y, Nam KH, Yun M, Kim CK (2015) Pituitary 18F-FDG uptake correlates with serum TSH levels in subjects with diffuse thyroid 18F-FDG uptake. Clin Nucl Med 40(8):632\u2013636","journal-title":"Clin Nucl Med"},{"issue":"3","key":"1300_CR26","first-page":"21","volume":"69","author":"A Albader","year":"2015","unstructured":"Albader A, Zawawi F, Singer Z, Mlynarek A, Hier M, Tamilia M, Payne R (2015) Preoperative TSH and thyroglobulin levels: would it predict thyroid cancer? Otolaryngologia polska: The Polish otolaryngology 69(3):21","journal-title":"Otolaryngologia polska: The Polish otolaryngology"},{"issue":"10","key":"1300_CR27","doi-asserted-by":"publisher","first-page":"1217","DOI":"10.1007\/s00439-014-1457-x","volume":"133","author":"EJ Hollox","year":"2014","unstructured":"Hollox EJ, Hoh BP (2014) Human gene copy number variation and infectious disease. Hum Genet 133(10):1217\u20131233","journal-title":"Hum Genet"},{"issue":"7483","key":"1300_CR28","doi-asserted-by":"publisher","first-page":"361","DOI":"10.1038\/nature12818","volume":"505","author":"H Stefansson","year":"2014","unstructured":"Stefansson H, Meyerlindenberg A, Steinberg S, Magnusdottir B, Morgen K, Arnarsdottir S, Bjornsdottir G, Walters GB, Jonsdottir GA, Doyle OM (2014) CNVs conferring risk of autism or schizophrenia affect cognition in controls. Nature 505(7483):361\u2013366","journal-title":"Nature"},{"key":"1300_CR29","doi-asserted-by":"publisher","DOI":"10.1038\/srep13391","volume":"5","author":"R Dajani","year":"2015","unstructured":"Dajani R, Li J, Wei Z, Glessner JT, Xiao C, Cardinale CJ, Pellegrino R, Wang T, Hakooz N, Khader Y (2015) CNV analysis associates AKNAD1 with Type-2 diabetes in Jordan subpopulations. Sci Rep 5:13391","journal-title":"Sci Rep"},{"issue":"4","key":"1300_CR30","doi-asserted-by":"publisher","first-page":"388","DOI":"10.1111\/psyp.12026","volume":"50","author":"S Duschek","year":"2013","unstructured":"Duschek S, W\u00f6rsching J, Ga RDP (2013) Interactions between autonomic cardiovascular regulation and cortical activity: a CNV study. Psychophysiology 50(4):388\u2013397","journal-title":"Psychophysiology"},{"issue":"4","key":"1300_CR31","doi-asserted-by":"publisher","first-page":"970","DOI":"10.1002\/oby.21435","volume":"24","author":"E Aerts","year":"2016","unstructured":"Aerts E, Beckers S, Zegers D, Van HK, Massa G, Verrijken A, Verhulst SL, Van Gaal LF, Van HW (2016) CNV analysis and mutation screening indicate an important role for the NPY4R gene in human obesity. Obesity 24(4):970\u2013976","journal-title":"Obesity"},{"issue":"3","key":"1300_CR32","doi-asserted-by":"publisher","first-page":"170","DOI":"10.3923\/pjbs.2011.170.181","volume":"14","author":"AR Mansourian","year":"2011","unstructured":"Mansourian AR (2011) Central dogma in thyroid dysfunction: a review on structure modification of TSHR as a cornerstone for thyroid abnormalities. Pakistan Journal of Biological Sciences Pjbs 14(3):170\u2013181","journal-title":"Pakistan Journal of Biological Sciences Pjbs"},{"issue":"9","key":"1300_CR33","doi-asserted-by":"publisher","first-page":"1301","DOI":"10.1007\/PL00000941","volume":"58","author":"P Kopp","year":"2001","unstructured":"Kopp P (2001) Human genome and diseases: review\u2014the TSH receptor and its role in thyroid disease. Cell Mol Life Sci Cmls 58(9):1301\u20131322","journal-title":"Cell Mol Life Sci Cmls"},{"issue":"39","key":"1300_CR34","doi-asserted-by":"publisher","first-page":"23139","DOI":"10.1074\/jbc.270.39.23139","volume":"270","author":"DL Rossi","year":"1995","unstructured":"Rossi DL, Acebr\u00f3n A, Santisteban P (1995) Function of the homeo and paired domain proteins TTF-1 and Pax-8 in thyroid cell proliferation. J Biol Chem 270(39):23139\u201323142","journal-title":"J Biol Chem"},{"issue":"6","key":"1300_CR35","doi-asserted-by":"publisher","first-page":"1270","DOI":"10.1016\/j.ajhg.2008.04.019","volume":"82","author":"L Arnaud-Lopez","year":"2008","unstructured":"Arnaud-Lopez L, Usala G, Ceresini G, Mitchell B, Pilia M, Piras M, Sestu N, Maschio A, Busonero F, Albai G (2008) Phosphodiesterase 8B gene variants are associated with serum TSH levels and thyroid function. Am J Hum Genet 82(6):1270\u20131280","journal-title":"Am J Hum Genet"},{"issue":"2","key":"1300_CR36","doi-asserted-by":"publisher","first-page":"189","DOI":"10.1007\/s40618-013-0036-7","volume":"37","author":"P Agretti","year":"2014","unstructured":"Agretti P, Marco GD, Cosmo CD, Bagattini B, Ferrarini E, Montanelli L, Vitti P, Tonacchera M (2014) Frequency and effect on serum TSH of phosphodiesterase 8B (PDE8B) gene polymorphisms in patients with sporadic nonautoimmune subclinical hypothyroidism. J Endocrinol Investig 37(2):189\u2013194","journal-title":"J Endocrinol Investig"},{"issue":"5","key":"1300_CR37","doi-asserted-by":"publisher","first-page":"674","DOI":"10.1017\/S0007114511003552","volume":"107","author":"N Li","year":"2012","unstructured":"Li N, Jiang Y, Shan Z, Teng W (2012) Prolonged high iodine intake is associated with inhibition of type 2 deiodinase activity in pituitary and elevation of serum thyrotropin levels. Br J Nutr 107(5):674\u2013682","journal-title":"Br J Nutr"}],"container-title":["Biological Trace Element Research"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s12011-018-1300-7\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s12011-018-1300-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s12011-018-1300-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,10,29]],"date-time":"2020-10-29T09:57:26Z","timestamp":1603965446000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s12011-018-1300-7"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,3,15]]},"references-count":37,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2018,11]]}},"alternative-id":["1300"],"URL":"https:\/\/doi.org\/10.1007\/s12011-018-1300-7","relation":{},"ISSN":["0163-4984","1559-0720"],"issn-type":[{"value":"0163-4984","type":"print"},{"value":"1559-0720","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,3,15]]},"assertion":[{"value":"1 December 2017","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"6 March 2018","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"15 March 2018","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"All the procedures used in this experiment were reviewed and approved by the biomedical research ethics committee of Harbin Medical University.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with Ethical Standards"}},{"value":"The authors declare that they have no conflicts of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of Interest"}},{"value":"Informed consent was obtained from all individual participants included in the study.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Informed Consent"}}]}}