Progress in the single nucleotide polymorphisms and pathogenesis of congenital heart diseases / 国际儿科学杂志

ABSTRACT

Single nucleotide polymorphsims (SNPs)have been found to be associated with many human diseases.Studies have shown that the SNPs locus in the gene coding region can alter the coding sequence of the gene,causing amino acid changes,and then affecting the function of the corresponding protein,ultimately leading to diseases.Moreover,the SNPs loci in non-coding regions may affect the function of genes by influencinging transcription factors,causing DNA methylation modification and abnormal recruitment of miRNA,which has been considered as an important factor in disease development.This review focuses on the role of SNPs in the pathogenesis of cardiovascular diseases.