载脂蛋白 B100 R353Q 多态性与杂合子家族性高胆固醇血症患者心血管风险的相关性：一项病例对照研究。

R353Q polymorphism in the factor VII gene and cardiovascular risk in Heterozygous Familial Hypercholesterolemia: a case-control study.

机构信息

Lipids and Atherosclerosis Unit, Department of Medicine, IMIBIC/Hospital Universitario Reina Sofía/Universidad de Córdoba, Spain.

出版信息

Lipids Health Dis. 2011 Apr 9;10:50. doi: 10.1186/1476-511X-10-50.

DOI:10.1186/1476-511X-10-50

PMID:21477332

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3083367/

Abstract

BACKGROUND

Heterozygous Familial Hypercholesterolemia (FH) is a genetic disorder characterized by a high risk of cardiovascular disease. Certain polymorphisms of the factor VII gene have been associated with the development of coronary artery disease and there is a known association between factor VII levels and polymorphic variants in this gene. To date, no study has evaluated the association between factor VII and coronary artery disease in patients with FH.

RESULTS

This case-control study comprised 720 patients (546 with FH and 174 controls). We determined the prevalence and allele frequencies of the R353Q polymorphism of factor VII, the plasma levels of factor VII antigen (FVII Ag) and whether they could be predictive factors for cardiovascular risk. 75% (410) of the patients with FH were RR, 23% (127) RQ and 1.6% (9) QQ; in the control group 75.3% (131) were RR, 21.3% (37) RQ and 3.4% (6) QQ (p = 0.32). No statistically significant associations were observed in the distribution of genotypes and allele frequencies between case (FH) and control groups. Nor did we find differences when we evaluated the relationship between the R353Q polymorphism and cardiovascular risk (including coronary disease, ischemic stroke and peripheral arterial disease), either in the univariate analysis or after adjustment for sex, age, arterial hypertension, body mass index, xanthomas, diabetes, smoking, HDLc and LDLc and lipid-lowering treatment. The FVII Ag concentrations behaved in a similar fashion, with no differences for the interaction between controls and those with FH (RR vs. RQ/QQ; p = 0.96). In the subgroup of patients with FH no association was found among cardiovascular disease, genotype and FVII Ag levels (RR vs. RQ/QQ; p = 0.97).

CONCLUSIONS

Our study did not find a direct relationship between cardiovascular risk in patients with Heterozygous Familial Hypercholesterolemia, the R353Q polymorphism of factor VII and FVII Ag levels.

摘要

背景

杂合子家族性高胆固醇血症（FH）是一种以心血管疾病风险高为特征的遗传性疾病。因子 VII 基因的某些多态性与冠状动脉疾病的发展有关，并且因子 VII 水平与该基因的多态性变异之间存在已知的关联。迄今为止，尚无研究评估 FH 患者中因子 VII 与冠状动脉疾病之间的关系。

结果

本病例对照研究包括 720 例患者（546 例 FH 和 174 例对照）。我们确定了因子 VII 的 R353Q 多态性的流行率和等位基因频率、因子 VII 抗原（FVII Ag）的血浆水平以及它们是否可以作为心血管风险的预测因素。75%（410 例）的 FH 患者为 RR，23%（127 例）为 RQ，1.6%（9 例）为 QQ；对照组中，75.3%（131 例）为 RR，21.3%（37 例）为 RQ，3.4%（6 例）为 QQ（p=0.32）。在病例（FH）和对照组之间，基因型和等位基因频率的分布没有观察到统计学上的显著关联。我们也没有发现 R353Q 多态性与心血管风险（包括冠心病、缺血性卒中和外周动脉疾病）之间的关系存在差异，无论是在单变量分析还是在调整性别、年龄、动脉高血压、体重指数、黄斑瘤、糖尿病、吸烟、高密度脂蛋白胆固醇和低密度脂蛋白胆固醇和降脂治疗后。因子 VII Ag 浓度的行为也类似，对照组与 FH 患者之间的相互作用没有差异（RR 与 RQ/QQ；p=0.96）。在 FH 患者亚组中，心血管疾病、基因型和 FVII Ag 水平之间没有发现关联（RR 与 RQ/QQ；p=0.97）。