Objective:Mutations in LIM domain binding 3(LDB3)gene cause idiopathic dilated cardiomyopathy(IDCM),a structural heart disease with a complicated genetic background.However,the association of polymorphisms in the LDB3...Objective:Mutations in LIM domain binding 3(LDB3)gene cause idiopathic dilated cardiomyopathy(IDCM),a structural heart disease with a complicated genetic background.However,the association of polymorphisms in the LDB3 gene with susceptibility to IDCM in Chinese populations remains unexplored as dose the impact on clinical presentation.Methods:We sequenced all exons and the adjacent part of introns of the LDB3 gene in 159 Chinese Han IDCM patients and 247 healthy controls.Then we detected the distribution of polymorphisms in the LDB3 gene in all participants and assessed their associations with risk of IDCM.Additionally,we conducted a stratified genotype–phenotype correlation analysis.Results:The A allele of rs4468255 was significantly associated with IDCM(P<0.01).The rs4468255,rs11812601,rs56165849,and rs3740346 were also associated with diastolic blood pressure(DBP)and left ventricular ejection fraction(LVEF)(P<0.05).Notably,a higher frequency of rs4468255 polymorphism was observed in implantable cardioverter defibrillator(ICD)recipients under a recessive model(P<0.01),whereas the significant association disappeared after adjusting for potential confounders.However,in the dominant model,notable correlations could only be observed after adjusting for multi parameters.Conclusions:The rs4468255 was significantly correlated with IDCM of Chinese Han population.A allele of rs4468255 is higher in IDCM patients with ICD implantation,suggesting the influence of genetic background in the generation of this response.In addition,rs11812601,rs56165849,and rs3740346 in LDB3 show association with brain natriuretic peptide,DBP,and LVEF levels in patients with IDCM but did not show any association with IDCM susceptibility.展开更多
基金国家自然科学基金(the National Natural Science Foundation of China under Grant No.60473117)国家高技术研究发展计划( 863)(theNational High-Tech Research and Development Plan of China under Grant No.2006AA01Z319)
基金the Key Projects of Zhejiang Medical and Health Science and Technology Plan(Provincial and Ministerial Co-construction)(No.WKJ-ZJ-1819)the Fundamental Research Funds for the Zhejiang Province Universities(No.2019XZZX003-15)the National Natural Science Foundation of China(No.81470370)
文摘Objective:Mutations in LIM domain binding 3(LDB3)gene cause idiopathic dilated cardiomyopathy(IDCM),a structural heart disease with a complicated genetic background.However,the association of polymorphisms in the LDB3 gene with susceptibility to IDCM in Chinese populations remains unexplored as dose the impact on clinical presentation.Methods:We sequenced all exons and the adjacent part of introns of the LDB3 gene in 159 Chinese Han IDCM patients and 247 healthy controls.Then we detected the distribution of polymorphisms in the LDB3 gene in all participants and assessed their associations with risk of IDCM.Additionally,we conducted a stratified genotype–phenotype correlation analysis.Results:The A allele of rs4468255 was significantly associated with IDCM(P<0.01).The rs4468255,rs11812601,rs56165849,and rs3740346 were also associated with diastolic blood pressure(DBP)and left ventricular ejection fraction(LVEF)(P<0.05).Notably,a higher frequency of rs4468255 polymorphism was observed in implantable cardioverter defibrillator(ICD)recipients under a recessive model(P<0.01),whereas the significant association disappeared after adjusting for potential confounders.However,in the dominant model,notable correlations could only be observed after adjusting for multi parameters.Conclusions:The rs4468255 was significantly correlated with IDCM of Chinese Han population.A allele of rs4468255 is higher in IDCM patients with ICD implantation,suggesting the influence of genetic background in the generation of this response.In addition,rs11812601,rs56165849,and rs3740346 in LDB3 show association with brain natriuretic peptide,DBP,and LVEF levels in patients with IDCM but did not show any association with IDCM susceptibility.
