ABSTRACT. Keshan disease (KD) is an endemic cardiomyopathy associated with selenium deficiency. Recent studies indicate that glutathione peroxidase 1 (GPx1) mutation decreases GPx activity in myocardial cells and increases the risk of KD. To further clarify the correlation between GPx1 polymorphism and KD, we analyzed GPx1 polymorphism, blood selenium levels and GPx activity in KD patients and healthy controls in Heilongjiang Province. Four and 24 new mutation loci in the promoter and the exon region, respectively, of the GPx1 gene were found in the subjects, in contrast with the previously reported loci. There were no significant differences in the mutation frequency of these loci between the KD group and controls (chi-square test; P > 0.05). However, the mutation frequency of exon 474 was higher in the KD group (7/36) than in controls (2/41), and GPx activity was lower in the mutation group (90.475 ± 23.757 U/L) than in the non-mutation group (93.947 ± 17.463 U/L). Further investigation is necessary to clarify a possible causality between GPx1 exon 474 mutation and KD.

The aim of the present study was to explore the role of selenoprotein P (SePP) in the etiology of the endemic sudden cardiac death in Yunnan, China. The levels of SePP of 124 subjects and glutathione peroxidase (GPx) of 119 subjects were measured. The subjects were from the old and new endemic areas and non-endemic areas. The levels of SePP and GPx of the subjects of the old endemic area were significantly higher than those of the subjects of the new endemic area and the non-endemic areas, respectively. The Pearson's correlation among SePP, GPx, and the number of the incident cases of the disease were statistically significant. These correlations show that there is an inverse relationship among the number of patients and the levels of SePP (r  =  - 0.9800, P  =  0.0200) and GPx (r  =  - 0.961, P  =  0.009). The results show that selenium deficiency might play an important role in the incidence of the disease.