Keshan disease

H558R polymorphism in SCN5A is associated with Keshan disease and QRS prolongation in Keshan disease patients

S. Jiang, Li, F. L., Dong, Q., Liu, H. W., Fang, C. F., Shu, C., Cheng, H., Cui, J., Ma, H. X., Chen, D. Q., and Li, H., H558R polymorphism in SCN5A is associated with Keshan disease and QRS prolongation in Keshan disease patients, vol. 13, pp. 6569-6576, 2014.

Keshan disease (KSD), a potentially fatal cardiomyopathy, has very high incidence in some selenium-poor regions of China. KSD may be accompanied with a variety of arrhythmia, which is associated with mutations in the gene coding for cardiac voltage-gated sodium channel (SCN5A). The molecular mechanism of KSD is still largely obscure. We aimed to determine the association between the H558R polymorphism of SCN5A and KSD. We recruited 71 patients with KSD and 80 geographical region-matched control subjects in our study.

Analysis of glutathione peroxidase 1 gene polymorphism and Keshan disease in Heilongjiang Province, China

H. L. Wei, Pei, J. R., Jiang, C. X., Zhou, L. W., Lan, T., Liu, M., and Wang, T., Analysis of glutathione peroxidase 1 gene polymorphism and Keshan disease in Heilongjiang Province, China, vol. 10, pp. 2996-3001, 2011.

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.

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