SNP and mRNA expression for glutathione peroxidase 4 in Kashin-Beck disease
| Autor: | Xiao Hong Du, Xiu Zhen Zou, Guang Lu Bai, Xiao Xia Dai, Rui Xia Song, Yong Min Xiong, Xiao Yan Mo, Wenyan Sun |
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| Rok vydání: | 2011 |
| Předmět: |
Male
China medicine.medical_specialty Linkage disequilibrium Down-Regulation Medicine (miscellaneous) Biology Polymorphism Single Nucleotide Linkage Disequilibrium Selenium chemistry.chemical_compound Gene Frequency Selenium deficiency Internal medicine medicine Humans SNP Genetic Predisposition to Disease Lymphocytes RNA Messenger Phospholipid-hydroperoxide glutathione peroxidase 3' Untranslated Regions Allele frequency Genetic Association Studies Kashin-Beck Disease chemistry.chemical_classification Glutathione Peroxidase Kashin–Beck disease Nutrition and Dietetics Glutathione peroxidase Haplotype Exons Middle Aged Phospholipid Hydroperoxide Glutathione Peroxidase medicine.disease Endocrinology Haplotypes chemistry Case-Control Studies Female |
| Zdroj: | British Journal of Nutrition. 107:164-169 |
| ISSN: | 1475-2662 0007-1145 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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