Related Experiment Video
Updated: Jun 13, 2026

A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene
Published on: April 1, 2019
CXCL12 rs1801157 Polymorphism Is Associated with Antiatherogenic Lipoprotein Subfraction Profile Independent of
İnci Deniz1,2, Ayça Türer Cabbar3, Fatma Tuba Akdeniz4
1Department of Molecular Medicine, Institute of Health Sciences, Yeditepe University, Istanbul 34755, Turkey.
Insights
The CXCL12 rs1801157 gene variant does not directly impact coronary artery disease risk but influences lipoprotein profiles. It promotes beneficial HDL subfractions and reduces harmful LDL particles, suggesting an indirect protective role in cardiovascular health.
Area of Science:
- Genetics and Cardiovascular Disease
- Lipid Metabolism and Atherosclerosis
Background:
- Cardiovascular diseases are a leading global cause of mortality.
- The C-X-C motif chemokine ligand 12 (CXCL12) gene is linked to atherosclerosis, but its role in lipoprotein subfractions is unclear.
Purpose of the Study:
- To investigate the association between the CXCL12 rs1801157 single nucleotide polymorphism (SNP) and coronary artery disease (CAD) risk.
- To evaluate the relationship between this polymorphism and low-density lipoprotein (LDL) and high-density lipoprotein (HDL) subfraction profiles.
Main Methods:
- A case-control study involving 139 CAD patients and 125 healthy controls.
- Genotyping via TaqMan real-time PCR and lipoprotein subfractions analyzed using the Lipoprint system.
- Multivariable logistic and linear regression analyses adjusted for cardiovascular risk factors.
Main Results:
- No significant differences in rs1801157 genotype or allele distributions between CAD patients and controls.
- The polymorphism was not an independent predictor of CAD risk.
- TT homozygous carriers showed higher large HDL and intermediate HDL levels, and lower small LDL concentrations, independent of confounders.
Conclusions:
- The CXCL12 rs1801157 variant does not directly affect CAD susceptibility.
- This polymorphism modulates lipoprotein quality, promoting larger HDL and reducing atherogenic small LDL particles.
- An indirect cardioprotective role is suggested through modulation of lipid metabolism.
Abstract:
Background/Objectives: Cardiovascular diseases remain a leading cause of global mortality. The C-X-C motif chemokine ligand 12 (CXCL12) gene has been implicated in atherosclerosis; however, its relationship with lipoprotein subfraction profiles remains unclear. The primary objective of this study was to investigate the association between the CXCL12 rs1801157 C>T single nucleotide polymorphism (SNP) and coronary artery disease (CAD) risk in a Turkish population. The secondary objective was to evaluate the relationship between this polymorphism and LDL and HDL lipoprotein subfraction profiles. Methods: This case-control study included 139 patients with angiographically confirmed CAD and 125 healthy controls. Genotyping was performed using TaqMan real-time polymerase chain reaction (PCR). Low-density lipoprotein (LDL) and high-density lipoprotein (HDL) subfractions were analyzed using the Lipoprint® polyacrylamide gel electrophoresis system. Multivariable logistic and linear regression analyses were performed, adjusting for age, sex, body mass index (BMI), and major cardiovascular risk factors. Results: No significant differences in rs1801157 genotype or allele distributions were observed between groups (overall χ2 = 0.459, p = 0.796). Logistic regression confirmed that the polymorphism was not an independent predictor of CAD risk (CT: OR = 1.396, p = 0.409; TT: OR = 1.458, p = 0.694). HDL-C was an independent protective factor (OR = 0.952, 95% CI: 0.910-0.996; p = 0.029). Notably, TT homozygous carriers exhibited significantly higher large HDL (p = 0.018) and intermediate HDL (p < 0.001) subfraction levels and markedly lower small LDL concentrations (p < 0.001). Multivariable linear regression confirmed these associations were independent of age, sex, and BMI. Conclusions: The CXCL12 rs1801157 variant does not directly influence CAD susceptibility but modulates lipoprotein quality by promoting larger HDL subfractions and reducing atherogenic small LDL particles, suggesting an indirect cardioprotective role through lipid metabolism.
Related Concept Videos
Atherosclerosis III: Management
Pharmacogenomics: Identification of New Drug Targets
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu
Coronary Artery Disease IV: Preventive Measures
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase
Coronary Artery Disease I: Introduction