title: SNP and mRNA expression for glutathione peroxidase 4 in Kashin-Beck disease.
abstract: 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.
authors: 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.
authors: Xiao Hong
authors: XH
authors: Du
authors: Xiao Xia
authors: XX
authors: Dai
authors: Rui
authors: R
authors: Xia Song
authors: Xiu Zhen
authors: XZ
authors: Zou
authors: Wen
authors: W
authors: Yan Sun
authors: Xiao Yan
authors: XY
authors: Mo
authors: Guang
authors: G
authors: Lu Bai
authors: Yong Min
authors: YM
authors: Xiong
mesh_terms: D020413:3' Untranslated Regions; D016022:Case-Control Studies; D002681:China / Q000453:epidemiology; D015536:Down-Regulation; D005091:Exons; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005979:Glutathione Peroxidase / Q000097:blood* / Q000235:genetics / Q000378:metabolism; D006239:Haplotypes; D006801:Humans; D057767:Kashin-Beck Disease / Q000097:blood / Q000209:etiology / Q000235:genetics*; D015810:Linkage Disequilibrium; D008214:Lymphocytes / Q000201:enzymology / Q000378:metabolism; D008297:Male; D008875:Middle Aged; D000080662:Phospholipid Hydroperoxide Glutathione Peroxidase; D020641:Polymorphism, Single Nucleotide; D012333:RNA, Messenger / Q000097:blood* / Q000378:metabolism; D012643:Selenium / Q000172:deficiency
chemical_list: D020413:3' Untranslated Regions; D012333:RNA, Messenger; D000080662:Phospholipid Hydroperoxide Glutathione Peroxidase; D005979:Glutathione Peroxidase; D012643:Selenium