Yao Qiang, Zhang Wei, Zhang Tianjie
Department of Cardiology, Zhejiang Chinese Medicine and Western Medicine Integrated Hospital/Hangzhou Red Cross Hospital, Hangzhou Zhejiang.
Department of Cardiology, Chengwu county people's hospital, Chengwu County, Shandong Province.
Medicine (Baltimore). 2019 Nov;98(44):e17710. doi: 10.1097/MD.0000000000017710.
Tropomyosin 1 (TPM1) is a protein that constitutes the sarcomere filaments and is encoded by the TPM1 gene. The aim of the present study is to investigate the correlation between the 3' untranslated region (3'UTR) single nucleotide polymorphisms (SNPs) of the TPM1 gene and dilated cardiomyopathy (DCM).A total of 245 patients with DCM and 245 healthy controls were recruited with 5 ml of venous blood. Genomic DNA was extracted to analyze the TPM1 gene rs12148828, rs11558748, rs707602, rs6738, rs7178040 loci genotypes, and the plasma miR-21 level was analyzed by reverse transcription-PCR (RT-PCR).The risk of DCM development in the rs6738 locus G allele carriers were 1.69 times more than A allele carriers (95% CI: 1.22-2.33, P = .001). Age and gender had no effect on the association of TPM1 gene SNPs with DCM risk (P > .05). The plasma miR-21 level of TPM1 gene rs6738 locus AA carriers was significantly higher than that of the AG and GG genotypes (P < .001).The SNPs of TPM1 gene rs6738 locus is associated with the risk of DCM, which may be related to the abnormal increase of miR-21 level in DCM patients, but further research is needed to prove the causal relationship between miR-21 level and DCM risk.
原肌球蛋白1（TPM1）是一种构成肌节细丝的蛋白质，由TPM1基因编码。本研究的目的是探讨TPM1基因3'非翻译区（3'UTR）单核苷酸多态性（SNP）与扩张型心肌病（DCM）之间的相关性。共招募了245例DCM患者和245名健康对照者，采集5毫升静脉血。提取基因组DNA以分析TPM1基因rs12148828、rs11558748、rs707602、rs6738、rs7178040位点的基因型，并通过逆转录聚合酶链反应（RT-PCR）分析血浆miR-21水平。rs6738位点G等位基因携带者发生DCM的风险是A等位基因携带者的1.69倍（95%可信区间：1.22-2.33，P = 0.001）。年龄和性别对TPM1基因SNP与DCM风险的关联无影响（P > 0.05）。TPM1基因rs6738位点AA携带者的血浆miR-21水平显著高于AG和GG基因型携带者（P < 0.001）。TPM1基因rs6738位点的SNP与DCM风险相关，这可能与DCM患者miR-21水平异常升高有关，但需要进一步研究来证实miR-21水平与DCM风险之间的因果关系。
