# Association of apolipoprotein E gene polymorphisms with risk of coronary artery disease in a Han Chinese population at middle and high altitude in China

**Authors:** Fanrong Zeng, Xinyi Zhang, Meng Zhang, Hongli Liu, Yuan Li, Fan Ye, Xuejiao Chen, Fangyi Zhu, Lihong Zhai

PMC · DOI: 10.3389/fendo.2026.1765770 · 2026-02-03

## TL;DR

This study found that a specific APOE gene variant is linked to a higher risk of heart disease in Han Chinese people living at middle and high altitudes.

## Contribution

The study identifies the APOE ε3ε4 genotype as an independent predictor of CAD in a Han Chinese population at high altitudes.

## Key findings

- APOE ε3ε4 and ε4ε4 genotypes and ε4 allele frequencies were significantly different between CAD and non-CAD groups.
- CAD patients with the ε4 allele had higher Apo-B/Apo-A1, Apo-B, and LDL-C levels.
- The ε3ε4 genotype was an independent predictor for CAD (OR = 1.514, p = 0.014).

## Abstract

This study investigated the impact of APOE gene polymorphisms on the development of coronary artery disease (CAD) in the Han Chinese population at middle and high altitudes, focusing on lipid level regulation and atherosclerosis.

This retrospective case-control study involved 628 CAD patients and 628 matched controls without CAD. ApoE genotyping was conducted using PCR-chip technology, and genotype and allele frequencies were compared between groups. Multivariate logistic regression analyzed the link between ApoE polymorphisms and CAD risk in populations at middle and high altitudes.

The data revealed significant differences in APOE gene ε3ε4 and ε4ε4 genotypes, as well as ε4 allele frequencies, 1256 CAD and non-CAD cases (p < 0.05). CAD patients with the ε4 allele had higher Apo-B/Apo-A1, Apo-B, and LDL-C levels than those with the ε2 or ε3 alleles. Furthermore, multifactorial logistic regression analysis indicated that the APOE gene’s ε3ε4 genotype (OR = 1.514, 95% CI = 1.087 - 2.109, p = 0.014) is an independent predictor for CAD.

These findings validated that the APOE gene’s ε3ε4 genotype is a potential predictor for CAD onset in Han Chinese individuals at middle and high altitudes.

## Linked entities

- **Genes:** APOE (apolipoprotein E) [NCBI Gene 348]
- **Proteins:** APOE (apolipoprotein E), APOB (apolipoprotein B), APOA1 (apolipoprotein A1)
- **Diseases:** coronary artery disease (MONDO:0005010), atherosclerosis (MONDO:0005311)

## Full-text entities

- **Genes:** APOB (apolipoprotein B) [NCBI Gene 338] {aka FCHL2, FLDB, LDLCQ4, apoB-100, apoB-48}, APOA1 (apolipoprotein A1) [NCBI Gene 335] {aka AMYLD3, HPALP2, apo(a)}, AOPEP (aminopeptidase O (putative)) [NCBI Gene 84909] {aka AP-O, APO, C90RF3, C9orf3, DYT31, ONPEP}, APOE (apolipoprotein E) [NCBI Gene 348] {aka AD2, APO-E, ApoE4, LDLCQ5, LPG}, LDLR (low density lipoprotein receptor) [NCBI Gene 3949] {aka LDLCQ2}
- **Diseases:** CAD (MESH:D003324), ischemic heart disease (MESH:D017202), Cardiovascular Diseases (MESH:D002318), myocardial infarction (MESH:D009203), Cerebrovascular Disease (MESH:D002561), thrombotic (MESH:D013927), atherogenic (MESH:D050197), ventricular hypertrophy (MESH:D024741), death (MESH:D003643), Hypertension (MESH:D006973), stenosis (MESH:D003251), hypoxia (MESH:D000860), hypoxemic (MESH:D012131), DM (MESH:D003920), endothelial dysfunction (MESH:D014652), angina (MESH:D000787), inflammation (MESH:D007249), Disease (MESH:D004194), HL (MESH:C538324), coronary heart disease (MESH:D003327), acute coronary syndrome (MESH:D054058), dyslipidemia (MESH:D050171)
- **Chemicals:** alcohol (MESH:D000438), polyphenols (MESH:D059808), lipid (MESH:D008055), Cys (MESH:D003545), fatty acid (MESH:D005227), Arg (MESH:D001120), carbohydrate (MESH:D002241), LDL-C (-), 25-hydroxyvitamin D (MESH:C104450), blood glucose (MESH:D001786), cholesterol (MESH:D002784), TG (MESH:D014280), vitamin D (MESH:D014807), oxygen (MESH:D010100), salt (MESH:D012492)
- **Species:** Homo sapiens (human, species) [taxon 9606]
- **Mutations:** 388C, rs429328, 112 (Cys to Arg, 526C

## Figures

2 figures with captions in the complete paper: https://tomesphere.com/paper/PMC12909196/full.md

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Source: https://tomesphere.com/paper/PMC12909196