Polymorphism of ZBTB17 gene is associated with idiopathic dilated cardiomyopathy: a case control study in a Han Chinese population.
Polymorphism of ZBTB17 gene is associated with idiopathic dilated cardiomyopathy: a case control study in a Han Chinese population.
复制标题
ZBTB17基因多态性与特发性扩张型心肌病的相关性：中国汉族人群的病例对照研究
DOI：
10.1186/2047-783x-18-10
复制
发表时间：
2013-04-09
影响因子：
4.2
通讯作者：
Wu X
中科院分区：
文献类型：
--
作者：
Li X;Luo R;Mo X;Jiang R;Kong H;Hua W;Wu X
背景
扩张型心肌病（DCM）已被广泛研究多年，但其发病机制仍不清楚。ACTC 1基因是第一个被证明突变导致DCM的肌节基因;最近的研究表明，HSPB 7和ZBTB 17基因也与DCM相关。为了评估这三个基因在DCM中的潜在作用，我们检测了ZBTB 17、HSPB 7和ACTC 1基因的11个单核苷酸多态性（SNP）：即ZBTB 17的rs 10927875; HSPB 7的rs 1739843、rs7523558和rs6660685; ACTC 1中的rs 533021、rs 589759、rs 1370154、rs 2070664、rs3759834、rs 525720和rs670957。
方法
共有97名DCM患者和189名对照被纳入研究。采用基质辅助激光解吸/电离飞行时间质谱（MALDI-TOF-MS）对所有SNP进行基因分型。
结果
在中国汉族人群中，ZBTB 17基因rs 10927875多态性与扩张型心肌病相关（OR=5.19，95%CI =1.00 ~ 27.03，P=0.05）。ACTC 1和HSPB 7基因型和等位基因频率在DCM患者和对照组之间无差异。
结论
ZBTB 17多态性rs 10927875似乎在中国汉族人群中对DCM的易感性中起作用。
Background
Dilated cardiomyopathy (DCM) has been extensively investigated for many years, but its pathogenesis remains uncertain. The ACTC1 gene was the first sarcomeric gene whose mutation was shown to cause DCM; recent studies have indicated that the HSPB7 and ZBTB17 genes are also associated with DCM. To assess the potential role of these three genes in DCM, we examined 11 single nucleotide polymorphisms (SNPs) in the ZBTB17, HSPB7 and ACTC1 genes: namely, rs10927875 in ZBTB17; rs1739843, rs7523558, and rs6660685 in HSPB7; rs533021, rs589759, rs1370154, rs2070664, rs3759834, rs525720 and rs670957 in ACTC1.
Methods
A total of 97 DCM patients and 189 controls were included in the study. All SNPs were genotyped by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF-MS).
Results
The genotype of SNP rs10927875 in ZBTB17 (OR=5.19, 95% CI =1.00 to 27.03, P=0.05) was associated with DCM in a Han Chinese population. There was no difference in genotype or allele frequencies in ACTC1 or HSPB7 between DCM patients and control subjects.
Conclusion
The ZBTB17 polymorphism rs10927875 appears to play a role in the susceptibility of the Han Chinese population to DCM.