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标签 SNPs 与心肌梗死风险的关联。

Association between TagSNPs and the risk of myocardialinfarction.

机构信息

Institute of Aging Research, Guangdong Provincial Key Laboratory of Medical Molecular Diagnostics, Guangdong Medical University, Dongguan, China.

Institute of Biochemistry & Molecular Biology, Guangdong Medical University, Zhanjiang, China.

出版信息

Postgrad Med J. 2019 Sep;95(1127):487-492. doi: 10.1136/postgradmedj-2019-136459. Epub 2019 Jul 10.

DOI:10.1136/postgradmedj-2019-136459
PMID:31292280
Abstract

PURPOSE OF THE STUDY

Genome-wide association studies have revealed an association of polymorphisms with the risk of cardiovascular diseases. Nonetheless, the role of polymorphisms on myocardial infarction (MI) risk remains poorly understood. Here, we aim to evaluate the effect of tag single nucleotide polymorphisms (SNPs) on individual susceptibility to MI.

STUDY DESIGN

Genotyping of the four tagSNPs (rs1994016, rs3825807, rs4380028 and rs7173743) was performed in 232 MI cases and 661 control subjects using PCR-ligase detection reaction (LDR) method. The association of these four tagSNPs with MI risk was performed with SPSS software.

RESULTS

Multivariate logistic regression analysis showed that tagSNP rs3825807 exhibited a significant effect on MI risk. Compared with the TT homozygotes, the CT genotype (OR1.93, 95% CI1.30to 2.85, P=0.004) and the combined CC/CT genotypes (OR1.70, 95% CI1.16 to 2.50, P=0.028) were statistically significantly associated with the increased risk for MI. Further stratified analysis revealed a more significant association with MI risk among older subjects, hypertensives, non-diabetics and patients with hyperlipidaemia. Consistently, the haplotype rs1994016T-rs3825807C containing rs3825807 C allele exhibited increased MI risk (OR1.52, 95% CI1.10 to 2.10, p=0.010). However, we did not detect any association of the other three tagSNPs with MI risk.

CONCLUSIONS

Our finding suggest that tagSNP rs3825807 contributes to MI susceptibility in the Chinese Han population. Further studies are necessary to confirm the general validity of our findings and to clarify the underlying mechanism for this association.

摘要

研究目的

全基因组关联研究表明,多态性与心血管疾病的风险相关。尽管如此,多态性对心肌梗死(MI)风险的作用仍知之甚少。在这里,我们旨在评估标记单核苷酸多态性(SNP)对个体 MI 易感性的影响。

研究设计

使用聚合酶链反应-连接酶检测反应(LDR)方法对 232 例 MI 病例和 661 例对照进行四个标记 SNP(rs1994016、rs3825807、rs4380028 和 rs7173743)的基因分型。使用 SPSS 软件分析这些四个标记 SNP 与 MI 风险的关联。

结果

多变量逻辑回归分析显示,标记 SNP rs3825807 对 MI 风险有显著影响。与 TT 纯合子相比,CT 基因型(OR1.93,95%置信区间 1.30 至 2.85,P=0.004)和 CC/CT 基因型的组合(OR1.70,95%置信区间 1.16 至 2.50,P=0.028)与 MI 风险增加相关统计学显著。进一步的分层分析显示,在年龄较大的患者、高血压患者、非糖尿病患者和高脂血症患者中,与 MI 风险的相关性更为显著。同样,包含 rs3825807 C 等位基因的 rs1994016T-rs3825807C 单体型显示 MI 风险增加(OR1.52,95%置信区间 1.10 至 2.10,p=0.010)。然而,我们没有发现其他三个标记 SNP 与 MI 风险相关。

结论

我们的研究结果表明,标记 SNP rs3825807 导致中国汉族人群 MI 易感性增加。需要进一步的研究来确认我们发现的一般有效性,并阐明这种关联的潜在机制。

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