[Association between single nucleotide polymorphism in promoter region of SIRT1 gene and senile degenerative heart valvular disease].
[Association between single nucleotide polymorphism in promoter region of SIRT1 gene and senile degenerative heart valvular disease].
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DOI：
10.3760/cma.j.cn112137-20190716-01575
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发表时间：
2020-04-07
影响因子：
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通讯作者：
Yan, B
中科院分区：
文献类型：
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作者：
Song, Z P;Li, J R;Yan, B
目的：探讨SIRT1基因启动子序列单核苷酸多态性（snp）与老年性退行性心瓣膜病（SDHVD）的相关性。方法：选取2012年2月至2016年10月在济宁医学院附属医院就诊的SDHVD患者236例和健康对照285例。Sanger测序检测SIRT1基因启动子的snp。采用chi(2)检验和Logistic回归分析分型和相关性。采用Haploview4.2软件和SHEsis在线软件对单倍型和连锁不平衡进行分析。采用电泳迁移位移法（EMSA）分析了snp对转录因子与SIRT1基因启动子结合的影响。受snp影响的转录因子通过Transfac在线软件进行预测。结果：SDHVD组rs3740051 GG基因型频率分布显著高于对照组（chi(2)=4.855， P=0.028）。rs3740051的GG基因型与SDHVD存在相关性。经年龄调整后，GG基因型携带者发生SDHVD的风险是AA基因型携带者的3.079倍（OR=3.079, 95%CI: 1.156 ~ 8.201， P=0.024）。5个snp （rs3740051、rs932658、rs35995735、rs3740053和rs2394443）表现出强烈的连锁不平衡（D'>0.8）。五个snp的单倍型分析（单倍型频率）
Objective: To investigate the correlation between single nucleotide polymorphisms (SNPs) of SIRT1 gene promoter sequence and senile degenerative heart valvular disease (SDHVD). Methods: A total of 236 SDHVD patients and 285 healthy controls who visited the Affiliated Hospital of Jining Medical University between February 2012 and October 2016 were enrolled. SNPs of SIRT1 gene promoter were detected by Sanger sequencing. Typing and correlation were analyzed by chi(2) test and Logistic regression analysis. Haplotype and linkage disequilibrium were analyzed by Haploview4.2 software and SHEsis online software. The effect of SNPs on the binding of transcription factors to SIRT1 gene promoter was analyzed by electrophoretic mobility shift assay(EMSA). The transcription factors affected by SNPs were predicted by Transfac online software. Results: The frequency distribution of GG genotype of rs3740051 in the SDHVD group was significantly higher than that in the control group (chi(2)=4.855, P=0.028). There was a correlation between GG genotype of the rs3740051 and SDHVD. After adjusting for age, the risk of SDHVD in the carrier of GG genotype was 3.079 times higher than that of AA genotype(OR=3.079, 95%CI: 1.156-8.201, P=0.024). The five SNPs (rs3740051, rs932658, rs35995735, rs3740053 and rs2394443) showed strong linkage disequilibrium(D'>0.8). The haplotype analysis of the five SNPs (haplotype frequency