汉族人群中pri-miR-34b/c基因的单核苷酸多态性与先天性心脏病易感性无关。

Single-nucleotide polymorphism of the pri-miR-34b/c gene is not associated with susceptibility to congenital heart disease in the Han Chinese population.

作者信息

Liu Y-M, Wang Y, Peng W, Wu Z, Wang X-H, Wang M-L, Wang W, Sun J, Zhang Z-D, Mo X-M

机构信息

Department of Cardiothoracic Surgery, Affiliated Jiangyin Hospital of Southeast University Medical School, Southeast University, Jiangyin, Jiangsu, China.

出版信息

Genet Mol Res. 2013 Aug 12;12(3):2937-44. doi: 10.4238/2013.August.12.9.

DOI:10.4238/2013.August.12.9

PMID:24065649

Abstract

Recent evidence has shown that the microRNA polymorphism may play an important role in the susceptibility to congenital heart disease (CHD). A potentially functional SNP rs4938723 (T>C) in the promoter region of pri-miR-34b/c might affect transcription factor GATA binding and therefore pri-miR-34b/c expression. We genotyped the pri-miR-34b/c polymorphism in a case-control study of 590 patients and 672 controls in a Han Chinese population and assessed the effects of the pri-miR-34b/c polymorphism on CHD susceptibility by TaqMan SNP genotyping assay. There was no association between the pri-miR-34b/c polymorphism and the risk of CHD in both genotype and allelic frequency. In a subsequent analysis of the association between this polymorphism and CHD classification, there was still no significant difference in both genotype and allelic frequency. Our results suggest that the pri-miR-34b/c polymorphism rs4938723 is not associated with susceptibility to sporadic CHD in the Han Chinese population.

摘要

最近有证据表明，微小RNA多态性可能在先天性心脏病（CHD）易感性中起重要作用。pri-miR-34b/c启动子区域一个潜在功能性单核苷酸多态性rs4938723（T>C）可能影响转录因子GATA结合，进而影响pri-miR-34b/c的表达。我们在一项针对590例患者和672例对照的汉族人群病例对照研究中，对pri-miR-34b/c多态性进行基因分型，并通过TaqMan SNP基因分型检测评估pri-miR-34b/c多态性对CHD易感性的影响。在基因型和等位基因频率方面，pri-miR-34b/c多态性与CHD风险之间均无关联。在随后对该多态性与CHD分类之间关联的分析中，基因型和等位基因频率仍无显著差异。我们的结果表明，pri-miR-34b/c多态性rs4938723与汉族人群散发性CHD易感性无关。