Association study of polymorphisms in selenoprotein genes and Kashin-Beck disease and serum selenium/iodine concentration in a Tibetan population.
Association study of polymorphisms in selenoprotein genes and Kashin-Beck disease and serum selenium/iodine concentration in a Tibetan population.
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硒蛋白基因中的多态性和kashin-beck疾病以及藏族种群中血清硒/碘浓度的关联研究。
DOI：
10.1371/journal.pone.0071411
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发表时间：
2013
期刊：
影响因子：
3.7
通讯作者：
Yang Z
中科院分区：
文献类型：
--
作者：
Huang L;Shi Y;Lu F;Zheng H;Liu X;Gong B;Yang J;Lin Y;Cheng J;Ma S;Lin H;Yang Z
大骨节病是一种退行性骨关节病。遗传因素可能在大骨节病的发病机制中起重要作用。目的探讨藏族人群硒蛋白基因GPX1(rs1050450、rs1800668和rs3811699)、TrxR2(Rs5748469)和DIO2(Rs225014)与大骨节病(KBD)的关系及其与血清碘/硒水平的关系。采用快照方法对藏族大骨节病患者和对照组的GPX1基因rs1050450、rs1800668、rs3811699、TrxR2基因rs5748469、DIO2基因rs225014 5个SNP进行了检测。用加性模型计算了SNPs的P趋势值。三个基因中的五个SNP均未显示与大骨节病有显著关联。GPX1rs1050450、rs1800668和rs3811699的单倍型TCC、TTC和TTT与大骨节病和对照组显著相关，P值分别为0.0421、5.0E-4和0.0066。在藏族研究人群中，GPX1基因(Rs1050450)可能与碘浓度显著相关(P = 0.02726)。然而，没有检测到这种与硒浓度有关的关系(P = 0.2849)。在这项研究中，我们发现在藏族人群中，GPX1(rs1050450、rs1800668和rs3811699)、TrxR2(Rs5748469)和DIO2(Rs225014)基因的单个SNP可能与大骨节病没有显著关联。然而，GPX1基因rs1050450、rs1800668和rs3811699 SNPs的单倍型分析显示与大骨节病有显著关联。提示GPX1基因在藏族大骨节病的易感性中起保护作用。此外，GPX1基因(Rs1050450)可能与藏族人群的血清碘浓度显著相关。
Kashin-Beck disease is a kind of degenerative osteoarthropathy. Genetic factors may play an important role in the pathogenesis of KBD. To investigate the association of the selenoprotein genes GPX1 (rs1050450, rs1800668, and rs3811699), TrxR2 (rs5748469), and DIO2 (rs225014) with Kashin-Beck disease (KBD) in a Tibetan population and to investigate the association of these SNPs with the serum iodine/selenium concentration in the Tibetan population. Five SNPs including rs1050450, rs1800668, and rs3811699 in the GPX1 gene, rs5748469 in the TrxR2 gene, and rs225014 in the DIO2 gene were analyzed in Tibetan KBD patients and controls using the SNaPshot method. P trend values of the SNPs were calculated using an additive model. None of the five SNPs in the three genes showed a significant association with KBD. Haplotypes TCC, TTC and TTT of rs1050450, rs1800668 and rs3811699 in GPX1 showed a significant association with KBD and controls with P value of 0.0421, 5.0E-4 and 0.0066, respectively. The GPX1 gene (rs1050450) showed a potential significant association with the iodine concentration in the Tibetan study population (P = 0.02726). However, no such association was detected with the selenium concentration (P = 0.2849). In this study, we showed that single SNPs in the genes GPX1 (rs1050450, rs1800668 and rs3811699), TrxR2 (rs5748469), and DIO2 (rs225014) may not be significantly associated with KBD in a Tibetan population. However, haplotype analysis of SNPs rs1050450, rs1800668 and rs3811699 in GPX1 gene showed a significant association with KBD. The results suggested that GPX1 gene play a protective role in the susceptivity of KBD in Tibetans. Furthermore, the GPX1 gene (rs1050450) may be significantly associated with the serum iodine concentration in Tibetans.
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影响因子：
2
作者：
Arsova-Sarafinovska, Zorica;Matevska, Nadica;Dimovski, Aleksandar J.
通讯作者：
Dimovski, Aleksandar J.
DOI：
10.1016/j.beem.2009.08.002
发表时间：
2009-12-01
影响因子：
7.4
作者：
Koehrle, Josef;Gaertner, Roland
通讯作者：
Gaertner, Roland
影响因子：
2.7
作者：
Pasteels, JL;Liu, FD;Perlmutter, N
通讯作者：
Perlmutter, N
DOI：
10.1080/15287399209531597
发表时间：
1992-02-01
期刊：
JOURNAL OF TOXICOLOGY AND ENVIRONMENTAL HEALTH
影响因子：
--
作者：
PENG, A;YANG, CL;LI, H
通讯作者：
LI, H
影响因子：
4.7
作者：
Ravn-Haren, G;Olsen, A;Vogel, U
通讯作者：
Vogel, U