TNNT2 gene polymorphisms are associated with susceptibility to idiopathic dilated cardiomyopathy in the Han Chinese population.
TNNT2 gene polymorphisms are associated with susceptibility to idiopathic dilated cardiomyopathy in the Han Chinese population.
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DOI：
10.1155/2013/201372
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发表时间：
2013
影响因子：
--
通讯作者：
Hua W
中科院分区：
文献类型：
--
作者：
Li X;Wang H;Luo R;Gu H;Zhang C;Zhang Y;Hui R;Wu X;Hua W
背景特发性扩张型心肌病（DCM）以心室腔扩大和收缩功能障碍为特征。扩张型心肌病的发病机制尚不明确，TNNT 2基因可能与扩张型心肌病相关。为了评估TNNT 2在扩张型心肌病中的作用，我们检查了患者的10个标记单核苷酸多态性（SNP）。方法.共有97名DCM患者和189名对照受试者被纳入研究，所有SNP均通过基质辅助激光解吸/电离飞行时间质谱进行基因分型。结果在TNNT 2基因中，DCM与标签SNP rs3729547的基因型显著相关在中国汉族人群中，rs3729843的阳性率为（χ 2 = 6.63，P = 0.036，OR = 0.650，95%CI = 0.453-0.934），rs3729843的阳性率为（χ 2 = 9.787，P = 0.008，OR = 1.912，95%CI = 1.265-2.890）。连锁不平衡（LD）分析显示，rs7521796、rs 2275862、rs3729547、rs 10800775和rs 1892028这5个相距约6 kb的SNPs在DCM患者中处于高LD（D′ > 0.80）。结论提示TNNT 2基因多态性可能与中国汉族人群DCM的易感性有关。
Background. 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. Methods. 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. Results. 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. Conclusion. These results suggest that the TNNT2 polymorphisms might play an important role in susceptibility to DCM in the Chinese Han population.
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DOI：
10.1161/circgenetics.108.846733
发表时间：
2009-08
期刊：
Circulation. Cardiovascular genetics
影响因子：
--
作者：
Hershberger RE;Pinto JR;Parks SB;Kushner JD;Li D;Ludwigsen S;Cowan J;Morales A;Parvatiyar MS;Potter JD
通讯作者：
Potter JD
影响因子：
15.9
作者：
Mogensen, J;Kubo, T;McKenna, WJ
通讯作者：
McKenna, WJ
影响因子：
2.3
作者：
Dellefave L;McNally EM
通讯作者：
McNally EM
影响因子：
4.5
作者：
Stark K;Esslinger UB;Reinhard W;Petrov G;Winkler T;Komajda M;Isnard R;Charron P;Villard E;Cambien F;Tiret L;Aumont MC;Dubourg O;Trochu JN;Fauchier L;Degroote P;Richter A;Maisch B;Wichter T;Zollbrecht C;Grassl M;Schunkert H;Linsel-Nitschke P;Erdmann J;Baumert J;Illig T;Klopp N;Wichmann HE;Meisinger C;Koenig W;Lichtner P;Meitinger T;Schillert A;König IR;Hetzer R;Heid IM;Regitz-Zagrosek V;Hengstenberg C
通讯作者：
Hengstenberg C
影响因子：
4.8
作者：
POTTER, JD;SHENG, ZL;ZHAO, JJ
通讯作者：
ZHAO, JJ