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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.

Polymorphism of ZBTB17 gene is associated with idiopathic dilated cardiomyopathy: a case control study in a Han Chinese population