载脂蛋白 B 与 LDLR 基因之间的连锁不平衡及其与缺血性脑卒中的显著相关性

Linkage Disequilibrium between LDLR and Genes and its Significant Association with Ischemic Stroke.

机构信息

Clinical Laboratory, Quanzhou First Hospital Affiliated to Fujian Medical University, 362000 Quanzhou, Fujian, China.

出版信息

J Integr Neurosci. 2023 Jul 11;22(4):94. doi: 10.31083/j.jin2204094.

DOI:10.31083/j.jin2204094

PMID:37519169

Abstract

BACKGROUND

To analyze the polymorphism distribution of low density lipoprotein receptor , , gene in ischemic stroke, and explore the linkage disequilibrium among them. The correlation between the linkage disequilibrium and ischemic stroke was further analyzed.

METHODS

The levels of serum lipid (triglyceride, cholesterol, high density lipoprotein cholesterol, low density lipoprotein cholesterol, apolipoprotein A1, apolipoprotein B) and , , polymorphism of low density lipoprotein receptor gene were tested in patients with ischemic stroke (n = 140), healthy control (n = 129) and patients with other cerebrovascular diseases (n = 122). Chi-square test was used to compare the gene frequency and allele frequency of each group. Both the linkage disequilibrium of the three genes and the alleles correlated with ischemic stroke were analyzed. The correlation of linkage disequilibrium gene and ischemic stroke was analyzed with logistic binary regression.

RESULTS

In the ischemic stroke group, significant difference was observed in frequencies and allelic frequencies of low density lipoprotein receptor (LDLR) and . No difference of was found. Linkage disequilibrium was found for and (D' = 0.927, R2 = 0.509). Allelic genes correlate with ischemic stroke included of (X2 = 46.105, < 0.001) and of (X2 = 20.436, < 0.001).

CONCLUSIONS

Linkage disequilibrium existed between LDLR and genes. With the wild type gene (WT) (: ) as reference, : , and increased the risk of ischemic stroke, which might be a genetic marker used for the screen of high-risk population contributing to the prevention of the disease.

摘要

背景

分析缺血性脑卒中患者低密度脂蛋白受体基因、、多态性分布，探讨三者之间的连锁不平衡，并进一步分析其与缺血性脑卒中的相关性。

方法

采用病例对照研究方法，选取缺血性脑卒中患者 140 例、其他脑血管病患者 122 例及健康对照者 129 例，检测血清血脂（甘油三酯、胆固醇、高密度脂蛋白胆固醇、低密度脂蛋白胆固醇、载脂蛋白 A1、载脂蛋白 B）水平及低密度脂蛋白受体基因、、多态性，比较各组基因频率和等位基因频率，分析 3 个基因的连锁不平衡及与缺血性脑卒中相关的等位基因，采用 logistic 二元回归分析连锁不平衡基因与缺血性脑卒中的相关性。

结果

与健康对照组比较，缺血性脑卒中组低密度脂蛋白受体（LDLR）基因和多态性差异有统计学意义（），而基因多态性差异无统计学意义（）。、之间存在连锁不平衡（D'=0.927，R2=0.509）。与缺血性脑卒中相关的等位基因包括基因的（X2=46.105，＜0.001）和基因的（X2=20.436，＜0.001）。