Association between DIO2 polymorphism and the risk of Kashin-beck disease in Tibetan
Association between DIO2 polymorphism and the risk of Kashin-beck disease in Tibetan
复制标题
DIO2多态性与藏族大骨节病风险的关系
DOI：
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发表时间：
2019
期刊：
影响因子：
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通讯作者：
Dongya Yuan
中科院分区：
文献类型：
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作者：
Tianbo Jin;Li Wang;Xue He;Ming Liu;Mei Bai;Hao Rong;Yongjun He;Dongya Yuan
研究背景：大骨节病（KBD）是一种局部、多发性、变形性骨关节病，多发生于西藏。 2 型碘甲状腺原氨酸脱碘酶 (DIO2) 与骨骼对甲状腺激素非常敏感的甲状腺激素的激活有关。因此，有必要探讨藏族人群中KBD与DIO2之间的关联...方法。我们对藏族人群中的316例病例和320例对照进行了病例对照研究。使用 Agena MassARRAY 平台（Agena Bioscience，圣地亚哥，加利福尼亚州，美国）选择了 DIO2 中的七个单核苷酸多态性并进行基因分型。通过逻辑回归分析计算优势比 (OR) 和 95% 置信区间 (CI)。 HaploReg (https://pubs.broadinstitute.org/mammals/haploreg/haploreg.php) 和 GTEx (http://www.gtexportal.org) 数据库用于多态性的功能评估...结果。rs1352815 的“A/C”基因型（OR = 3.18， 95% CI = 1.14–8.85, p = 0.027) 和 rs1388382 的“A/G”基因型 (OR = 3.80, 95% CI = 1.30–11.11, p = 0.015) 与共显性模型下的 KBD 易感性相关。通过性别分层分析，rs1388382显示出明显的证据表明，在共显性模型下，rs1388382与女性患KBD风险升高相关（OR = 3.32，95% CI = 1.06–10.41，p = 0.039）……结论。本研究获得的结果表明，DIO2多态性rs1352815和rs1388382 与藏族人的大骨节病易感性相关，这也为DIO2在大骨节病发生中的作用提供了新的线索。
Background.Kashin–Beck disease (KBD) is a local, multiple and deformable osteoarthropathy, mostly occurring in Tibet. Type 2 iodothyronine deiodinase (DIO2) 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 DIO2 in the Tibetan population...Methods.We carried out a case–control study among 316 cases and 320 controls from a Tibetan population. Seven single nucleotide polymorphisms in DIO2 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 (https://pubs.broadinstitute.org/mammals/haploreg/haploreg.php) and GTEx (http://www.gtexportal.org) databases were applied for functional assessment of the polymorphisms...Results.The “A/C" genotype of rs1352815 (OR = 3.18, 95% CI = 1.14–8.85, p = 0.027) and the “A/G" genotype of rs1388382 (OR = 3.80, 95% CI = 1.30–11.11, p = 0.015) were associated with the susceptibility of KBD under the co‐dominant model. With gender stratification analysis, rs1388382 showed obvious evidence for correlation with an elevated risk of KBD in females under the co‐dominant model (OR = 3.32, 95% CI = 1.06–10.41, p = 0.039)...Conclusions.The results obtained in the present study indicate that DIO2 polymorphisms rs1352815 and rs1388382 were correlated with KBD susceptibility among Tibetans, which also sheds new light on the role of DIO2 in the development of KBD.