Association between SCN5A gene polymorphism and simple congenital heart disease in Xinjiang Uyghur populations

doi:10.3969/j.issn.2095-4344.2015.07.025

Abstract

Abstract:

BACKGROUND: SCN5A is the gene encoding the largest reported cardiac sodium channel, and α subunit of SCN5A gene encoding human cardiac voltage-gated sodium channels is highly expressed in human myocardial cells, which is mainly responsible for generation of action potentials and expansion of excitable cells, and plays an important role in controlling excitability conduction of myocardial cells.

OBJECTIVE: To explore the correlation between the polymorphism loci of H588R, C5457T, R1193Q of the SCN5A gene and simple congenital heart disease in Xinjiang Uyghur populations.

METHODS: 150 patients with simple congenital heart disease in Xinjiang Uygur served as case group, and another 150 Xinjiang Uygur healthy people as control group. Polymerase chain reaction-restriction fragment length polymorphism analysis and direct sequencing method were chosen to detect the H588R, C5457T, R1193Q polymorphism loci of SCN5A gene, and to analyze the distribution of different genotypes and allele frequencies in the case group and the control group.

RESULTS AND CONCLUSION: The genotype and allele frequencies at polymorphic loci of C5457T and R1193Q were significant different between the case and control groups (P < 0.05). Genotype frequencies of polymorphic locus of H588R were significantly different between the two groups (P < 0.05). Compared with the control group, the polymorphic locus of C5457T in patients with atrial septal defect and patent ductus arteriosus showed significant difference in the allele frequency (P < 0.05), and allele T increased the onset risks for atrial septal defect and patent ductus arteriosus (odd ratio=3.636, 3.467). There were significant differences in allele frequency at the polymorphic loci of R1193Q among patients with atrial septal defect, tetralogy of Fallot and patent foramen ovale (P < 0.05), and allele A increased the onset risks for atrial septal defect, tetralogy of Fallot and patent foramen ovale (odd ratio=3.413, 3.839, 4.059). The polymorphism loci of C5457T, R1193Q of SCN5A gene may be the susceptibility factors for simple congenital heart disease in Xinjiang Uygur populations. The polymorphic locus of H558R is not directly related to simple congenital heart disease in Xinjiang Uygur populations.

中国组织工程研究杂志出版内容重点：组织构建；骨细胞；软骨细胞；细胞培养；成纤维细胞；血管内皮细胞；骨质疏松；组织工程

全文链接：

Key words: Tissue Engineering, Heart Diseases, Sodium, Genes

CLC Number:

R318

Song Na, Xu Rui, Zhou Can-lin, Qiu Jin, Reziwanguli Yimin, Zhou Yong . Association between SCN5A gene polymorphism and simple congenital heart disease in Xinjiang Uyghur populations[J]. Chinese Journal of Tissue Engineering Research, 2015, 19(7): 1122-1126.

Figures/Tables 3

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