眼睑黄色瘤与高胆固醇血症中遗传因素的相关性研究  

Study on the correlation between xanthelasma palpebrarum and the genetic factor of hypercholesterolemia

作　　者：王璟 黄春梅 唐浩英 戴东霞 刘永初 陈玉梅 Jing Wang;Chun-Mei Huang;Hao-Ying Tang;Dong-Xia Dai;Yong-Chu Liu;Yu-Mei Chen(Department of Ophthalmology,Foshan Sanshui District People's Hospital,Foshan 528100,Guangdong Province,China;Aegicare(Shenzhen)Technology Co.,Ltd.,Shenzhen 518109,China)

机构地区：[1]中国广东省佛山市三水区人民医院眼科,528100 [2]深圳安吉康尔医学检验实验室,广东省深圳市518109

出　　处：《国际眼科杂志》2023年第4期689-693,共5页International Eye Science

基　　金：佛山市自筹经费类科技计划项目(No.1920001001244)

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。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.

关 键 词：眼睑黄色瘤 血脂异常 遗传因素 发病机制 高通量测序 

分 类 号：R589.2[医药卫生—内分泌] R77[医药卫生—内科学]