Association between a new SNP in proximal promoter region of apolipoprotein M and susceptibility of coronary artery diseases in Han Chinese population
10.3760/cma.j.issn.0253-3758.2014.04.005
- VernacularTitle:载脂蛋白M启动子区的一个新单核苷酸多态性位点及其与冠心病易感性的关系
- Author:
Lu ZHENG
1
;
Jun ZHANG
;
Qinfeng MU
;
Xiaoying ZHANG
;
Guanghua LUO
Author Information
1. 213003,常州市第一人民医院综合实验室
- Keywords:
Apolipoproteins;
Coronary disease;
Polymorphism,single nucleotide;
Promoter regions (genetics)
- From:
Chinese Journal of Cardiology
2014;42(4):284-289
- CountryChina
- Language:Chinese
-
Abstract:
Objective To investigate the association between genetic polymorphisms of proximal promoter region of apolipoprotein M (apoM) gene and susceptibility of coronary artery diseases (CAD) in Han Chinese population.Methods Two pairs of primers were designed according to the sequence (GenBank accession nos.EU030444.1) and the PCR products of apoM proximal promoter region were directly sequenced.Two hundred and six patients [165 males,mean age (61.9 ± 9.2) years old] diagnosed with CAD according to the results of angiography (a lesion was classed as being significant when stenosis was more than 50％) were enrolled in the present study,209 age-and gender-matched patients[157 males,mean age (60.4 ± 9.1) years old] without CAD according to the results of angiography were selected as the control group.The allelic frequencies and genotype distributions of polymorphism in CAD and nonCAD patients were analyzed.Furthermore the wide-type and mutant promoter region of apoM were cloned into the luciferase expression vector pGL3,respectively.Luciferase reporter assay was used to detect the activity of apoM promoter.Results A new deletion mutation-724delC in apoM promoter was found.The frequency of Del C allele was 8.0％ in CAD patients and only 4.1％ in the non-CAD controls (OR =2.054,95％CI 1.125-3.749,P =0.017).The mean TC level was lower in groups with wide-type homozygotes compared to the mutant allele carriers [(6.04 ± 0.90) mmol/L vs.(4.95 ± 1.00) mmol/L,P ＜ 0.01].-724delC mutant showed obvious decreased luciferase activities (1.13 ±0.25 vs.2.11 ±0.15,P =0.009).Conclusion It is reasonable to speculate that-724delC could affect the activity of the apoM promoter and downregulate apoM expressions,therefore,influence the susceptibility of CAD in this patient cohort.
