title: Analysis of glutathione peroxidase  1 gene polymorphism and Keshan disease in Heilongjiang Province, China.
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.
authors.affiliation: Center for Endemic Disease Control, Chinese Center for Disease Control and Prevention, Harbin Medical University, Harbin, Heilongjiang, China.
authors.forename: H L
authors.initials: HL
authors.lastname: Wei
authors.forename: J R
authors.initials: JR
authors.lastname: Pei
authors.forename: C X
authors.initials: CX
authors.lastname: Jiang
authors.forename: L W
authors.initials: LW
authors.lastname: Zhou
authors.forename: T
authors.initials: T
authors.lastname: Lan
authors.forename: M
authors.initials: M
authors.lastname: Liu
authors.forename: T
authors.initials: T
authors.lastname: Wang
mesh_terms: D009202:Cardiomyopathies / Q000097:blood / Q000201:enzymology / Q000235:genetics*; D016022:Case-Control Studies; D002681:China; D004769:Enterovirus Infections / Q000097:blood / Q000201:enzymology / Q000235:genetics*; D005091:Exons; D005260:Female; D056726:Genetic Association Studies; D005838:Genotype; D005979:Glutathione Peroxidase / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D008297:Male; D059645:Mutation Rate; D032383:Myocytes, Cardiac / Q000201:enzymology* / Q000473:pathology; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic; D012643:Selenium / Q000097:blood / Q000172:deficiency*; D000094765:Glutathione Peroxidase GPX1
chemical_list: D005979:Glutathione Peroxidase; D012643:Selenium; D000094765:Glutathione Peroxidase GPX1; C000722067:GPX1 protein, human