在中国汉族人群中，SMARCA4基因的变异与冠心病易感性相关。

Variants in the SMARCA4 gene was associated with coronary heart disease susceptibility in Chinese han population.

作者信息

Guo Xuan, Wang Xiaohong, Wang Yuan, Zhang Chunyan, Quan Xiaohui, Zhang Yan, Jia Shan, Ma Weidong, Fan Yajie, Wang Congxia

机构信息

Department of Cardiovascular Medicine, The Second Affiliated Hospital of Xi'an Jiaotong University, Xi'an, Shaanxi 710004, China.

Department of Cardiovascular Medicine, The First Hospital of Xi'an, Xi'an, Shaanxi 710004, China.

出版信息

Oncotarget. 2017 Jan 31;8(5):7350-7356. doi: 10.18632/oncotarget.14387.

DOI:10.18632/oncotarget.14387

PMID:28055962

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5352326/

Abstract

BACKGROUND

Coronary heart disease (CHD) is the leading cause of death worldwide. Many single-nucleotide polymorphisms (SNPs) are found to be related to the risk of CHD in previous studies. This study investigated whether polymorphism of SMARCA4 gene is associated with CHD.

MATERIALS AND METHODS

Genotypes at five CHD-relevant SNPs were determined in 456 cases of incident CHD and 685 unaffected controls in Chinese Han population using χ2 test, genetic model analysis and haplotype analysis. We also analysis the differences in continuous variables among the subjects with three genotypes of related genes were assessed using the ANOVA.

RESULTS

We identified two susceptibility SNPs in the SMARCA4 gene that were potentially associated with a decreased risk of CHD. We identified rs11879293 (OR, 0.74; 95% CI, 0.59-0.96; P = 0.012) and rs12232780 (OR, 0.70; 95% CI, 0.54-0.90; P = 0.005) were associated with a decreased risk of CHD risk under the log-additive model adjusted by gender and age. Meanwhile, we also found that significant differences in glucose concentrations with rs11879293 and rs1122608 different genotype. Serum LDL-C and HDL-C were seen among the 3 genotypes of rs12232780 exist differences.

CONCLUSION

This study provides an evidence for polymorphism of SMARCA4 gene associated with CHD development in Chinese Han population.

摘要

背景

冠心病（CHD）是全球主要的死亡原因。先前的研究发现许多单核苷酸多态性（SNP）与冠心病风险相关。本研究调查了SMARCA4基因多态性是否与冠心病有关。

材料与方法

采用χ2检验、遗传模型分析和单倍型分析，对456例中国汉族人群新发冠心病患者和685例未受影响的对照者进行5个与冠心病相关的SNP的基因分型。我们还使用方差分析评估了相关基因三种基因型受试者连续变量的差异。

结果

我们在SMARCA4基因中鉴定出两个易感性SNP，它们可能与冠心病风险降低有关。我们发现rs11879293（比值比，0.74；95%可信区间，0.59 - 0.96；P = 0.012）和rs12232780（比值比，0.70；95%可信区间，0.54 - 0.90；P = 0.005）在经性别和年龄调整的对数加性模型下与冠心病风险降低相关。同时，我们还发现rs11879293和rs1122608不同基因型的葡萄糖浓度存在显著差异。rs12232780的三种基因型之间血清低密度脂蛋白胆固醇（LDL-C）和高密度脂蛋白胆固醇（HDL-C）存在差异。