SCARB1基因中rs5888单核苷酸多态性与冠状动脉疾病的关联：一项汉族人群研究。

Association of rs5888 SNP in SCARB1 gene with coronary artery disease : Study of a Han Chinese population.

作者信息

Xie L, Lv X, Sun Y, Tong Y, Zhang S, Deng Y

机构信息

Department of Pediatric Cardiology, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.

The Vascular Remodeling and Developmental Defects Research Unit, West China Institute of Women and Children's Health, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.

出版信息

Herz. 2019 Nov;44(7):644-650. doi: 10.1007/s00059-018-4689-z. Epub 2018 Mar 7.

DOI:10.1007/s00059-018-4689-z

PMID:29516118

Abstract

BACKGROUND

The scavenger receptor class B type I (SCARB1) gene plays an important role in high-density lipoprotein cholesterol (HDL-C) metabolism and may be involved in the pathogenesis of coronary artery disease (CAD). The rs5888 (C/T) single-nucleotide polymorphism (SNP) in the SCARB1 gene is functional, and we therefore examined the association between rs5888 and CAD.

METHODS

The rs5888 genotypes were analyzed in 287 Chinese patients with CAD and 367 controls via the high-resolution melting curve (HRM) method. Allele frequency and genotype distribution were compared. The levels of plasma triglyceride (TG), total cholesterol (TC), HDL-C, and low-density lipoprotein-cholesterol (LDL-C) were also compared between the groups with different genotypes.

RESULTS

The proportion of subjects with TT and CT genotypes in the control group was significantly higher than that in the CAD group (50.95% vs. 32.75%, p < 0.001). The frequency of individuals with T alleles in the control group was significantly higher than that in the CAD group (28.75% vs. 17.25%, p < 0.001). In the combined population (CAD and control groups), the HDL-C concentration in individuals with the TT genotype was significantly higher than in those with the CT genotype (1.81 ± 1.29 vs. 1.42 ± 0.56, p = 0.026) or in those with the CC genotype (1.81 ± 1.29 vs. 1.42 ± 0.72, p = 0.021).

CONCLUSION

The results of this study suggest that the rs5888 SNP in the SCARB1 gene is associated with CAD; furthermore, the TT genotype is associated with a higher HDL-C concentration.

摘要

背景

I型清道夫受体B类（SCARB1）基因在高密度脂蛋白胆固醇（HDL-C）代谢中起重要作用，可能参与冠状动脉疾病（CAD）的发病机制。SCARB1基因中的rs5888（C/T）单核苷酸多态性（SNP）具有功能，因此我们研究了rs5888与CAD之间的关联。

方法

通过高分辨率熔解曲线（HRM）方法分析了287例中国CAD患者和367例对照者的rs5888基因型。比较等位基因频率和基因型分布。还比较了不同基因型组之间的血浆甘油三酯（TG）、总胆固醇（TC）、HDL-C和低密度脂蛋白胆固醇（LDL-C）水平。

结果

对照组中TT和CT基因型受试者的比例显著高于CAD组（50.95%对32.75%，p<0.001）。对照组中T等位基因个体的频率显著高于CAD组（28.75%对17.25%，p<0.001）。在合并人群（CAD组和对照组）中，TT基因型个体的HDL-C浓度显著高于CT基因型个体（1.81±1.29对1.42±0.56，p=0.026）或CC基因型个体（1.81±1.29对1.42±0.72，p=0.021）。