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作者

Yin, J. Yang, J. Ren, F. X. Sun, C. M. Li, L. D. Han, L. Y. Cai, S. L. Zhang, C. H. Zhang, Z. Q. Zhang, Z. T. Wang, H.

作者单位

Ren, F. X. Zhang, Z. T.] Laiwu City Peoples Hosp, Taishan Med Coll, Affiliated Hosp, Dept Cardiol, Laiwu, Peoples R China. [Yang, J. Cai, S. L.] Qingdao Univ, Coll Med, Dept Cardiol, Qingdao 266071, Peoples R China. [Yin, J. Li, L. D. Zhang, C. H.] Yantai Yuhuangding Hosp, Dept Cardiol, Yantai, Peoples R China. [Sun, C. M.] Yantai Yuhuangding Hosp, Gene Engn Lab, Yantai, Peoples R China. [Han, L. Y.] Shaanxi Xian Ordnance Ind 521 Hosp, Dept Cardiol, Xian, Peoples R China. [Wang, H.] Fu Wai Hosp, Sinogerman Lab, Beijing, Peoples R China. Zhang, Z. Q. [Yin, J.

刊名

GENETICS AND MOLECULAR RESEARCH

年份

2015

卷号

Vol.14

页码

15427-15434

ISSN

1676-5680

关键词

Association analysis LMNA gene SNP Dilated cardiomyopathy

分类号

576.5

摘要

Recently, studies on the pathogenesis of dilated cardiomyopathy (DCM) have focused on the underlying molecular biology and the association between single nucleotide polymorphisms (SNPs) and disease. This study was designed to explore the association between the rs4641 SNP of the LMNA gene and DCM in order to identify a new gene locus related to DCM. Polymerase chain reaction-restriction fragment length polymorphism and DNA sequencing were employed to detect and genotype rs4641 in 198 patients wi...更多

Recently, studies on the pathogenesis of dilated cardiomyopathy (DCM) have focused on the underlying molecular biology and the association between single nucleotide polymorphisms (SNPs) and disease. This study was designed to explore the association between the rs4641 SNP of the LMNA gene and DCM in order to identify a new gene locus related to DCM. Polymerase chain reaction-restriction fragment length polymorphism and DNA sequencing were employed to detect and genotype rs4641 in 198 patients with DCM and 160 healthy controls. Genotype and allele frequencies were compared to discover their relationship and logistic regression was used to assess the risk of DCM associated with the polymorphic variants. In the DCM group, the frequencies of the TC and TT genotypes and the T allele of rs4641 were remarkably higher than those in the control group (P < 0.01). According to risk analysis, taking the CC genotype as a reference, both the TC and TT genotypes increased the risk of DCM pathogenesis, with OR (95% CI) values of 5.957 (2.903-12.222) and 6.424 (2.156-19.141), respectively. Taking the C allele as the reference, presence of the T allele was found to increase DCM risk, with OR (95% CI) of 5.295 (3.121-8.983). These results suggested that the C to T mutation at the rs4641 locus of LMNA could enhance the risk of DCM, and that rs4641 represented a genetic susceptibility locus. Therefore, it was concluded that the LMNA rs4641 SNP was associated with DCM risk, which indicated that LMNA is a susceptibility gene for DCM.收起

学科

【ESI学科】MOLECULAR BIOLOGY & GENETICS

影响因子

2015年:0.764;2014年:0.775;2013年:0.85;2012年:0.994;2011年:1.184

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期刊

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