常见的前 microRNA 基因多态性与扩张型心肌病的风险增加相关。

Common genetic polymorphisms in pre-microRNAs were associated with increased risk of dilated cardiomyopathy.

机构信息

Laboratory of Molecular Translational Medicine, West China Second University Hospital, Sichuan University, Chengdu 610041, PR China.

出版信息

Clin Chim Acta. 2010 Sep 6;411(17-18):1287-90. doi: 10.1016/j.cca.2010.05.010. Epub 2010 May 19.

DOI:10.1016/j.cca.2010.05.010

PMID:20488170

Abstract

BACKGROUND

Common single nucleotide polymorphisms (SNPs) in pre-microRNAs may change their property through altering microRNAs (miRNAs) expression and/or maturation, resulting diverse functional consequences. We conducted a pilot study to test whether SNPs in pre-microRNAs were associated with dilated cardiomyopathy (DCM).

METHODS

Genotypes of 3 SNPs in pre-miRNAs (has-mir-196a2 rs11614913 C/T, hsa-mir-499 rs3746444 A/G, hsa-mir-146a rs2910164 C/G) in 221 DCM patients and 321 control subjects were determined with the use of PCR-restriction fragment length polymorphism (RFLP) assay.

RESULTS

Significantly increased DCM risks were found to be associated with variant allele of has-mir-196a2 rs11614913 C/T (T allele) and hsa-mir-499 rs3746444 A/G (G allele) (P<0.0001, OR=1.730, 95% CI=1.345-2.227, and P<0.0001, OR=1.794, 95% CI=1.350-2.385, respectively). We found that increased DCM risk was statistically significantly associated with these 2 SNPs in a dominant model (P=0.0001 and P<0.0001 for rs11614913 and rs3746444, respectively). No association between DCM risk and hsa-mir-146a rs2910164 C/G was observed (P=0.451, OR=1.102, 95% CI=0.856-1.418).

CONCLUSIONS

Both the has-mir-196a2 rs11614913 C/T and hsa-mir-499 rs3746444 A/G, but not hsa-mir-146a rs2910164 C/G, are associated with a significantly increased risk of DCM, indicating that common genetic polymorphisms in pre-microRNAs are associated with DCM.

摘要

背景

前 microRNA 中的常见单核苷酸多态性 (SNP) 可能通过改变 microRNAs (miRNAs) 的表达和/或成熟而改变其性质，从而产生不同的功能后果。我们进行了一项初步研究，以测试前 microRNAs 中的 SNP 是否与扩张型心肌病 (DCM) 相关。

方法

使用 PCR-限制性片段长度多态性 (RFLP) 分析检测 221 例 DCM 患者和 321 例对照的前 microRNA (has-mir-196a2 rs11614913 C/T、hsa-mir-499 rs3746444 A/G、hsa-mir-146a rs2910164 C/G) 中 3 个 SNP 的基因型。

结果

发现变体等位基因 has-mir-196a2 rs11614913 C/T (T 等位基因) 和 hsa-mir-499 rs3746444 A/G (G 等位基因) 与 DCM 风险显著增加相关（P<0.0001，OR=1.730，95%CI=1.345-2.227 和 P<0.0001，OR=1.794，95%CI=1.350-2.385）。我们发现，在显性模型中，这些 2 个 SNP 与增加的 DCM 风险显著相关（rs11614913 和 rs3746444 的 P=0.0001 和 P<0.0001）。未观察到 DCM 风险与 hsa-mir-146a rs2910164 C/G 之间的关联（P=0.451，OR=1.102，95%CI=0.856-1.418）。