[关键词]
[摘要]
目的：探讨眼睑黄色瘤与巨噬细胞清道夫受体1(MSR1)基因单核苷酸多态性(SNP)的相关性。
方法：分别抽取20例眼睑黄色瘤患者和20例健康者的空腹外周静脉血，应用Sanger测序方法进行MSR1基因型SNP检测，眼睑黄色瘤患者同时进行血脂、α-脂蛋白水平、颈动脉彩超等检查。
结果：眼睑黄色瘤患者和健康人MSR1基因型SNP分布无显著差异，但部分合并颈动脉硬化和高血脂症的患者MSR1外显子区域S2-SNP1、S5-SNP2、S5-SNP4位点发生纯合突变。
结论：眼睑黄色瘤与抗动脉粥样硬化受体MSR1基因型SNP具有相关性。
[Key word]
[Abstract]
AIM: To study the single nucleotide polymorphisms(SNPs)of Macrophage Scavenger Receptor 1(MSR1)gene in xanthelasma palpebrarum patients.
METHODS: We drew peripheral venous blood from 20 xanthelasma palpebrarum patients and 20 healthy participants. We detected the SNPs of MSR1 gene with Sanger sequencing, examined serum lipids and α-lipoprotein of the patients, and scanned carotid arteries of the patients with color ultrasound. After that, we kept on observation of the participants.
RESULTS: There was no significant difference in the SNPs of MSR1 genotype between xanthelasma palpebrarum patients and healthy participants. However, in some patients with carotid atherosclerosis and hyperlipidemia, there were homozygous mutations at S2-SNP1, S5-SNP2 and S5-SNP4 in the exon region of MSR1 gene, which were related to atherosclerosis.
CONCLUSION: Xanthelasma palpebrarum is related to SNPs of MSR1 in atherosclerosis.
[中图分类号]
[基金项目]
安徽省合肥市第二人民医院光华基金项目(No.2017-135-04)
