Association study of polymorphisms in selenoprotein genes and Kashin-Beck disease and serum selenium/iodine concentration in a Tibetan population

PLoS One. 2013 Aug 23;8(8):e71411. doi: 10.1371/journal.pone.0071411. eCollection 2013.


Background: Kashin-Beck disease is a kind of degenerative osteoarthropathy. Genetic factors may play an important role in the pathogenesis of KBD.

Objective: 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.

Design: 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.

Results: 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).

Conclusions: 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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Female
  • Genotype
  • Glutathione Peroxidase / genetics*
  • Glutathione Peroxidase GPX1
  • Humans
  • Iodide Peroxidase / genetics*
  • Iodine / blood*
  • Iodothyronine Deiodinase Type II
  • Kashin-Beck Disease / blood
  • Kashin-Beck Disease / epidemiology
  • Kashin-Beck Disease / genetics*
  • Male
  • Middle Aged
  • Polymorphism, Single Nucleotide
  • Selenium / blood*
  • Selenoproteins / genetics
  • Thioredoxin Reductase 2 / genetics*
  • Tibet / epidemiology


  • Selenoproteins
  • Iodine
  • Iodide Peroxidase
  • Glutathione Peroxidase
  • TXNRD2 protein, human
  • Thioredoxin Reductase 2
  • Selenium
  • Glutathione Peroxidase GPX1
  • GPX1 protein, human

Grants and funding

Supported by Department of Science and Technology of China (2007BAI25B02) and Department of Science and Technology of Sichuan Province (08ZC0479) (to Z. Yang); Health Department of Sichuan Province (110196) and China's Post-doctoral Scientific Fund of the 49 Projects funded On-oriented (Serial No.1612) (to L. Huang). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.