TBX5 基因靶序列单核苷酸多态性 与先天性心脏病的关系

Association between single nucleotide polymorphism of TBX5 gene target sequence and congenital heart disease

摘要:

目的 探讨TBX5 基因3' 非翻译区靶序列SNPs 与先天性心脏病（CHD）遗传易感性的关系， 为CHD 的分子机制研究提供线索。方法 利用HaploView 软件筛选TBX5 基因3' 非翻译区功能性单核苷酸 多态性（SNP），并应用高分辨率熔解曲线检测TBX5 基因3' 非翻译区SNP。采用病例对照研究分析SNP 位 点与CHD 的关联。结果 HaploView 软件筛选出TBX5 基因3' 非翻译区有意义的标签SNP rs883079，高分 辨率熔解曲线法成功检测该SNP位点（rs883079）的G/G、G/A及A/A 3种基因型。TBX5 基因rs883079（ G>A） 位点等位基因或基因型分布频率比较，差异有统计学意义（P <0.05）；与CHD 易感性关联，A 是CHD 的危 险等位基因，A/A 为CHD 的危险基因型（P <0.05）。结论 TBX5 基因rs883079 位点SNP 与CHD 有关系， rs883079（G>A）携带突变纯合子基因型A/A 个体患CHD 的危险性升高。

Abstract:

Objective To investigate the relationship between SNPs in the 3’ untranslated region of TBX5 gene and genetic susceptibility to congenital heart disease (CHD), and to provide clues for the study of the molecular mechanisms of CHD. Methods The functional SNPs of 3’ untranslated region of TBX5 gene were screened by HaploView software, and genotypes of the SNP locus were detected by high resolution melting curve. A case-control study was used to analyze the association between SNP loci and congenital heart disease. Results HaploView software screened a significant SNP locus rs883079 in the 3’ untranslated region of TBX5 gene. The high-resolution melting curve method successfully detected the SNP locus (rs883079) with G/G, G/A and A/A genotypes. There was a statistically significant difference in the allele or genotype distribution of rs883079 G>A locus between the case group and the control group (P < 0.05). Allele A was the risk allele of congenital heart disease. Genotype A/A was the risk genotype of congenital heart disease (P < 0.05). Conclusions TBX5 gene rs883079 locus SNP was associated with congenital heart disease, and individuals carrying the mutation homozygous genotype A/A had an increased risk of congenital heart disease.