A preliminary study of apolipoprotein B assay combined with whole exome sequencing for accurate diagnosis of hyperlipidemia
10.3760/cma.j.cn114452-20250320-00177
- VernacularTitle:载脂蛋白B检测结合全外显子组测序用于高脂血症精准诊断的初步研究
- Author:
Chang ZHAO
1
;
Fang ZHENG
1
;
Xueping QIU
1
;
Liang CAO
1
;
Fan WANG
1
;
Ruiyang ZHU
1
;
Daoxi QI
1
;
Shuyang SHENG
1
Author Information
1. 武汉大学中南医院检验科，武汉 430071
- Publication Type:Journal Article
- Keywords:
Familial hyperlipidemia;
Whole exome sequencing;
Apolipoprotein B;
Genetic counseling
- From:
Chinese Journal of Laboratory Medicine
2025;48(7):895-901
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To investigate the use of apolipoprotein B (ApoB) diagnostic algorithm for hyperlipidemia typing combined with whole exome sequencing in the precise diagnosis of familial hyperlipidemia.Methods:A retrospective observational study was conducted by collecting clinical information on all patients who attended our hospital, and had their lipid levels tested from January 2023 to May 2024, including 440 patients with low-density lipoprotein cholesterol (LDL-C)>4.10 mmol/L. Family history, current lipid levels, medication use, and comorbidities were collected by telephone follow-ups. Among them, 10 patients had a family history of hyperlipidemia. Peripheral venous blood samples were collected from patients with a family history of hyperlipidemia, and whole exome sequencing was performed.Results:According to the Fredrickson typing of WHO, 10 patients (P1 to P10) could be categorized into two groups, of which only type Ⅱa could be excluded in 6 cases, and the typing could not be determined in 4 cases. The ApoB diagnostic algorithm of hyperlipidemia typing could classify patients P1 and P2 as type Ⅱa, patients P3 to P7, P9 and P10 as type Ⅱb, and patient P8 as type Ⅴ, respectively. Whole exome sequencing detected mutations in LDLR, PCSK9, C5AR2, KIF12, ALMS1, ABCG5, COL4A3, and MTTP genes.Conclusion:The ApoB diagnostic algorithm for hyperlipidemia can be used for accurate typing of hyperlipidemia, and ApoB could be recommended as a routine lipid testing parameter. The ApoB diagnostic algorithm for hyperlipidemia combined with whole exome sequencing could be used for the accurate typing of patients with familial hyperlipidemia and defining the underlying gene mutations.
