[关键词]
[摘要]
目的：探讨眼睑黄色瘤(XP)与高胆固醇血症中遗传因素的相关性，为揭示其发病机制提供依据。
方法：选取2019-11/2021-01在佛山市三水区人民医院眼科就诊的XP患者29例，抽取外周静脉血，通过二代测序(NGS)技术检测患者的基因突变情况，同时分析患者的血脂情况。
结果：纳入的XP患者中有21例检出基因突变，其中13例为高胆固醇血症患者，8例为正常胆固醇患者，发生突变的基因包括STAP1、APOB、LDLRAP1、LDLR、PCSK9和APOE，基因突变类型包括3-UTR变异、框内缺失、错义变异、5-UTR变异、同义突变、内含子突变、可变剪接体变异、非编码转录外显子突变和非编码转录突变。
结论：高胆固醇血症的遗传因素与XP疾病之间有一定的相关性。
[Key word]
[Abstract]
AIM: To investigate the correlation between xanthelasma palpebrarum(XP)and the genetic factor of hypercholesterolemia and provide a basis for the elucidation of the pathogenesis of xanthelasma palpebrarum.
METHODS: A total of 29 patients with XP who treated in the ophthalmology department of Foshan Sanshui District People's Hospital from November 2019 to January 2021 were selected. Peripheral blood was drawn, and the Next Generation Sequencing(NGS)technology was used to detect the genetic mutations of patients, while blood lipids of XP patients were analyzed.
RESULTS: Gene mutations were detected in 21 patients with XP, among which 13 cases had hypercholesterolemia and 8 cases had normal cholesterol levels. Genes including STAP1, APOB, LDLRAP1, LDLR, PCSK9 and APOE mutated, and the types of gene mutation included 3-UTR mutation, in-frame deletion, missense mutation, 5-UTR mutation, synonymous mutation, intronic mutation, alternative splice variant, non coding transcript exon variant, and non coding transcript variant.
CONCLUSION: There is a correlation between genetic factors of hypercholesterolemia and XP.
[中图分类号]
[基金项目]
佛山市自筹经费类科技计划项目(No.1920001001244)
