单核苷酸多态性与先天性心脏病发病机制研究进展

Progress in the single nucleotide polymorphisms and pathogenesis of congenital heart diseases

单核苷酸多态性(single nucleotide polymorphsim,SNP)已被证实与人类许多疾病发生有关.研究表明,基因编码区的SNP位点能够改变基因的编码序列,造成氨基酸改变,进而影响相应蛋白质的功能,最终导致疾病的发生;而非编码区的SNP位点可能通过影响转录因子结合,改变DNA甲基化修饰和miRNA募集异常等对基因功能产生影响,成为疾病发生的重要因素.该文重点对SNP在先天性心脏病发生中的作用机制进行综述.

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.