# Genetic Analysis and Clinical Effect of ACE2 Gene Variants (rs2285666 and rs4646188) on Coronary Syndrome in Dyslipidaemia Patients

**Authors:** Shaimaa Y. Abdulfattah, Sumaya Saady

PMC · DOI: 10.18295/2075-0528.2967 · Sultan Qaboos University Medical Journal · 2026-02-12

## TL;DR

This study found that specific genetic variations in the ACE2 gene are linked to increased risk of coronary artery disease in people with dyslipidaemia.

## Contribution

The study identifies ACE2 gene variants rs2285666 and rs4646188 as risk factors for coronary artery disease in dyslipidaemia patients.

## Key findings

- The T-allele of rs2285666 increases CAD risk in both males and females with dyslipidaemia.
- The G-allele of rs4646188 is significantly associated with CAD risk in both sexes.
- Both gene variants are linked to dyslipidaemia-related lipid profile changes.

## Abstract

This study aimed to investigate the association of two intronic polymorphisms of the ACE2 gene (rs2285666 and rs4646188) with coronary artery disease (CAD) in Iraqi patients with dyslipidaemia.

This case-control study was conducted from March to September 2023 at the Iraqi Center of Heart Disease, Baghdad, Iraq, and included patients with CAD and dyslipidaemia. Genotyping was performed using TaqMan probes and real-time qPCR.

A total of 170 participants were included in this study. Demographic, echocardiographic, and lipid profile data were analysed, revealing significant differences in age, left ventricular ejection fraction %, LV systolic diameter, LV diastolic diameter and lipid parameters. The T-allele of rs2285666 was significantly associated with CAD risk in both females (odds ratio [OR] = 2.06, 95% confidence interval [CI]: 1.06–4; P = 0.032) and males (OR = 3, 95% CI: 0.96–9.39; P = 0.05). Similarly, the G-allele of rs4646188 showed a significant association in both sexes (OR = 2.03, 95% CI: 0.99–4.15; P = 0.05) and (OR = 2.71, 95% CI: 1.07–6.93; P = 0.38). The polymorphisms were also linked to dyslipidaemia, with rs2285666 (CT+TT in females; P <0.001) and rs4646188 (G-allele in males; P = 0.037) associated with elevated total cholesterol levels. reduced high-density lipoprotein levels were linked to rs2285666 (T-allele in males; P = 0.034) and rs4646188 (AG+GG; P <0.001). Increased low-density lipoprotein levels were associated with rs2285666 (CT+TT; P = 0.006 in females; T-allele; P = 0.018 in males) and rs4646188 (G-allele in males; P = 0.022). Elevated triglyceride levels were linked to rs2285666 (CT+TT; P = 0.01) and rs4646188 (AG+GG; P = 0.001) in females.

The T-allele of rs2285666 and the G-allele of rs4646188 were identified as potential risk factors for CAD in both sexes, with their effects influenced by dyslipidaemia status.

## Linked entities

- **Genes:** ACE2 (angiotensin converting enzyme 2) [NCBI Gene 59272]
- **Diseases:** coronary artery disease (MONDO:0005010), dyslipidaemia (MONDO:0002525)

## Full-text entities

- **Genes:** ACE2 (angiotensin converting enzyme 2) [NCBI Gene 59272] {aka ACEH}, REN (renin) [NCBI Gene 5972] {aka ADTKD4, HNFJ2, RTD}
- **Diseases:** cardiovascular damage (MESH:D002318), MI (MESH:D009203), ischaemic stroke (MESH:D002544), myocardial hypertrophy (MESH:D006984), CHD (MESH:D006330), death (MESH:D003643), blood pressure (MESH:D006973), AF (MESH:D014693), Lipid disorder (MESH:D011017), T2DM (MESH:D003924), heart failure (MESH:D006333), cardiac hypertrophy (MESH:D006332), renal and liver disfunction (MESH:D017093), Heart Disease (MESH:D006331), CAD (MESH:D003324), malignant tumour (MESH:D009369), DM (MESH:D003920), cardioembolic stroke (MESH:D000083262), CAS (MESH:D016893), Coronary Syndrome (MESH:D054058), EH (MESH:D000075222), autoimmune disease (MESH:D001327), stroke (MESH:D020521)
- **Chemicals:** HDL-C (-), glucose (MESH:D005947), lipid (MESH:D008055), TG (MESH:D014280), cholesterol (MESH:D002784), aspirin (MESH:D001241)
- **Species:** Homo sapiens (human, species) [taxon 9606]
- **Mutations:** C>T, rs4646188, rs2074192, rs4646142, rs2106809, C for T, rs1978124, G8790A

## Full text

_Full body text omitted from this summary view._ Fetch the complete paper as Markdown: https://tomesphere.com/paper/PMC12969405/full.md

## Figures

3 figures with captions in the complete paper: https://tomesphere.com/paper/PMC12969405/full.md

## References

33 references — full list in the complete paper: https://tomesphere.com/paper/PMC12969405/full.md

---
Source: https://tomesphere.com/paper/PMC12969405