title: Association of the LMNA gene single nucleotide polymorphism rs4641 with bdilated cardiomyopathy.
abstract: 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.
authors.affiliation: Department of Cardiology, Qingdao University Medical College, Qingdao, China.
authors.forename: J
authors.initials: J
authors.lastname: Yin
authors.affiliation: Department of Cardiology,Yantai Yuhuangding Hospital, Yantai, China.
authors.forename: J
authors.initials: J
authors.lastname: Yang
authors.affiliation: Department of Cardiology,Yantai Yuhuangding Hospital, Yantai, China.
authors.forename: F X
authors.initials: FX
authors.lastname: Ren
authors.affiliation: Gene Engineering Laboratory, Yantai Yuhuangding Hospital, Yantai, China.
authors.forename: C M
authors.initials: CM
authors.lastname: Sun
authors.affiliation: Department of Cardiology,Yantai Yuhuangding Hospital, Yantai, China.
authors.forename: L D
authors.initials: LD
authors.lastname: Li
authors.affiliation: Department of Cardiology, Shaanxi Xian Ordnance Industry 521 Hospital, Xian, China.
authors.forename: L Y
authors.initials: LY
authors.lastname: Han
authors.affiliation: Department of Cardiology, Qingdao University Medical College, Qingdao, China.
authors.forename: S L
authors.initials: SL
authors.lastname: Cai
authors.affiliation: Department of Cardiology,Yantai Yuhuangding Hospital, Yantai, China.
authors.forename: C H
authors.initials: CH
authors.lastname: Zhang
authors.affiliation: Department of Cardiology, Taishan Medical College Affiliated Hospital of Laiwu City People's Hospital, Laiwu, China.
authors.forename: Z Q
authors.initials: ZQ
authors.lastname: Zhang
authors.affiliation: Department of Cardiology, Taishan Medical College Affiliated Hospital of Laiwu City People's Hospital, Laiwu, China.
authors.forename: Z T
authors.initials: ZT
authors.lastname: Zhang
authors.affiliation: Fu Wai Hospital Sino-German Laboratory, Beijing, China.
authors.forename: H
authors.initials: H
authors.lastname: Wang
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D002311:Cardiomyopathy, Dilated / Q000235:genetics*; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D034904:Lamin Type A / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide; D055815:Young Adult
chemical_list: D034904:Lamin Type A