{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T21:09:19Z","timestamp":1792098559612,"version":"4.4.0"},"reference-count":24,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2019,9,4]],"date-time":"2019-09-04T00:00:00Z","timestamp":1567555200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81560516"],"award-info":[{"award-number":["81560516"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["The Journal of Gene Medicine"],"published-print":{"date-parts":[[2019,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Kashin\u2013Beck disease (KBD) is a local, multiple and deformable osteoarthropathy, mostly occurring in Tibet. Type 2 iodothyronine deiodinase (<jats:italic>DIO2<\/jats:italic>) is implicated in the activation of thyroid hormones to which the bones are very sensitive. Therefore, it is necessary to explore the association between KBD and <jats:italic>DIO2<\/jats:italic> in the Tibetan population.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We carried out a case\u2013control study among 316 cases and 320 controls from a Tibetan population. Seven single nucleotide polymorphisms in <jats:italic>DIO2<\/jats:italic> were selected and genotyped using the Agena MassARRAY platform (Agena Bioscience, San Diego, CA, USA). Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated by logistic regression analysis. HaploReg (<jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"https:\/\/pubs.broadinstitute.org\/mammals\/haploreg\/haploreg.php\">https:\/\/pubs.broadinstitute.org\/mammals\/haploreg\/haploreg.php<\/jats:ext-link>) and GTEx (<jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"http:\/\/www.gtexportal.org\">http:\/\/www.gtexportal.org<\/jats:ext-link>) databases were applied for functional assessment of the polymorphisms.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The \u201cA\/C\" genotype of rs1352815 (OR\u00a0=\u00a03.18, 95% CI\u00a0=\u00a01.14\u20138.85, <jats:italic>p<\/jats:italic>\u00a0=\u00a00.027) and the \u201cA\/G\" genotype of rs1388382 (OR\u00a0=\u00a03.80, 95% CI\u00a0=\u00a01.30\u201311.11, <jats:italic>p<\/jats:italic>\u00a0=\u00a00.015) were associated with the susceptibility of KBD under the co\u2010dominant model. With gender stratification analysis, rs1388382 showed obvious evidence for correlation with an elevated risk of KBD in females under the co\u2010dominant model (OR\u00a0=\u00a03.32, 95% CI\u00a0=\u00a01.06\u201310.41, <jats:italic>p<\/jats:italic>\u00a0=\u00a00.039).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>The results obtained in the present study indicate that <jats:italic>DIO2<\/jats:italic> polymorphisms rs1352815 and rs1388382 were correlated with KBD susceptibility among Tibetans, which also sheds new light on the role of <jats:italic>DIO2<\/jats:italic> in the development of KBD.<\/jats:p><\/jats:sec>","DOI":"10.1002\/jgm.3123","type":"journal-article","created":{"date-parts":[[2019,8,21]],"date-time":"2019-08-21T13:55:50Z","timestamp":1566395750000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Association between <i>DIO2<\/i> polymorphism and the risk of Kashin\u2013Beck disease in the Tibetan population"],"prefix":"10.1002","volume":"21","author":[{"given":"Tianbo","family":"Jin","sequence":"first","affiliation":[{"name":"Key Laboratory of Molecular Mechanism and Intervention Research for Plateau Diseases of Tibet Autonomous Region, School of Medicine Xizang Minzu University  Xianyang Shaanxi China"},{"name":"Key Laboratory of High Altitude Environment and Genes Related to Diseases of Tibet Autonomous Region, School of Medicine Xizang Minzu University  Xianyang Shaanxi China"},{"name":"Key Laboratory for Basic Life Science Research of Tibet Autonomous Region, School of Medicine Xizang Minzu University  Xianyang Shaanxi China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Li","family":"Wang","sequence":"additional","affiliation":[{"name":"Key Laboratory of Molecular Mechanism and Intervention Research for Plateau Diseases of Tibet Autonomous Region, School of Medicine Xizang Minzu University  Xianyang Shaanxi 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