British Journal of Nutrition

Molecular Nutrition

SNP and mRNA expression for glutathione peroxidase 4 in Kashin-Beck disease

Xiao Hong Dua1, Xiao Xia Daia1, Rui Xia Songa1, Xiu Zhen Zoua1, Wen Yan Suna1, Xiao Yan Moa2, Guang Lu Baia3 and Yong Min Xionga1 c1

a1 Key Laboratory of Environment and Genes Related to Diseases of Education Ministry, College of Medicine, Institute of Endemic Disease, Xi'an Jiaotong University, No. 76 Yanta West Road, Xi'an, Shaanxi 710061, People's Republic of China

a2 School of Life Science and Technology, Xi'an Jiaotong University, Xi'an, Shaanxi 710049, People's Republic of China

a3 Shaanxi Provincial Institute for Endemic Disease Control, Xi'an, Shaanxi 710003, People's Republic of China


Kashin-Beck disease (KBD) is a chronic endemic osteoarthropathy, which mainly occurs in West and Northeast China. Epidemiological studies suggest that Se deficiency is an important environmental factor for the incidence of KBD. Glutathione peroxidase 4 (GPx4) belongs to the glutathione peroxidase family, which is crucial for optimal antioxidant defences. Our purpose is to investigate the putative association between GPx4 polymorphisms and the risk of KBD. Restriction fragment length polymorphism-PCR was used to detect two SNP (rs713041, rs4807542) in 219 cases and 194 controls in Han Chinese subjects, and quantitative analysis for the GPx4 mRNA level was performed by the real-time PCR method. The results revealed that linkage disequilibrium existed in the two SNP. A significant difference was observed in the haplotype A-T (P = 0·0066) of GPx4, which was obviously lower in the KBD cases (0·006 v. 0·032 %). Correlation analysis based on a single locus showed no association between each SNP and KBD risk. Furthermore, the GPx4 mRNA level was dramatically lower in the blood of KBD patients. Overall, our finding indicated GPx4 polymorphisms and decreased mRNA level may be related to the development of KBD in the Chinese population, suggesting GPx4 as a possible candidate susceptibility gene for KBD.

(Received November 18 2010)

(Revised April 14 2011)

(Accepted April 14 2011)

(Online publication June 23 2011)


c1 Corresponding author: Y. M. Xiong, fax +86 29 82655032, email

Abbreviations: GPx4, glutathione peroxidase 4; HWE, Hardy–Weinberg equilibrium; KBD, Kashin-Beck disease; LD, linkage disequilibrium; Sec, selenocysteine