Cardiac Arrhythmia Center, Cardiovascular Institute and Fuwai Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing 100037, China.
Biomed Res Int. 2013;2013:201372. doi: 10.1155/2013/201372. Epub 2013 Mar 17.
Idiopathic dilated cardiomyopathy (DCM) is characterized by ventricular chamber enlargement and systolic dysfunction. The pathogenesis of DCM remains uncertain, and the TNNT2 gene is potentially associated with DCM. To assess the role of TNNT2 in DCM, we examined 10 tagging single nucleotide polymorphisms (SNPs) in the patients.
A total of 97 DCM patients and 189 control subjects were included in the study, and all SNPs were genotyped by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry.
In the TNNT2 gene, there was a significant association between DCM and genotype for the tagging SNPs rs3729547 (χ(2) = 6.63, P = 0.036, OR = 0.650, and 95% CI = 0.453-0.934) and rs3729843 (χ(2) = 9.787, P = 0.008, OR = 1.912, and 95% CI = 1.265-2.890) in the Chinese Han population. Linkage disequilibrium (LD) analysis showed that the SNPs rs7521796, rs2275862, rs3729547, rs10800775, and rs1892028, which are approximately 6 kb apart, were in high LD (D' > 0.80) in the DCM patients.
These results suggest that the TNNT2 polymorphisms might play an important role in susceptibility to DCM in the Chinese Han population.
特发性扩张型心肌病（DCM）的特征是心室腔扩大和收缩功能障碍。DCM 的发病机制尚不清楚，TNNT2 基因可能与 DCM 有关。为了评估 TNNT2 在 DCM 中的作用，我们对患者的 10 个标记单核苷酸多态性（SNP）进行了检测。
本研究共纳入 97 例 DCM 患者和 189 例对照，所有 SNP 均采用基质辅助激光解吸电离飞行时间质谱法进行基因分型。
在 TNNT2 基因中，DCM 与标签 SNP rs3729547（χ(2) = 6.63，P = 0.036，OR = 0.650，95%CI = 0.453-0.934）和 rs3729843（χ(2) = 9.787，P = 0.008，OR = 1.912，95%CI = 1.265-2.890）的基因型之间存在显著关联。连锁不平衡（LD）分析显示，DCM 患者中大约 6kb 范围内的 SNPs rs7521796、rs2275862、rs3729547、rs10800775 和 rs1892028 之间存在高度 LD（D' > 0.80）。
这些结果表明，TNNT2 多态性可能在中国汉族人群中对 DCM 的易感性起重要作用。
