Related Experiment Video
Updated: Apr 27, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
A single nucleotide polymorphism in the stromal cell-derived factor 1 gene is associated with coronary heart disease
Lei Feng1, Shi-Yan Nian2, Ying-Lu Hao3
1Department of Laboratory Medicine, Nanfang Hospital, Southern Medical University, Guangzhou 510515, China. fengleii@kmmu.edu.cn.
Insights
Genetic variations in the stromal cell-derived factor 1 (SDF-1) gene are linked to coronary heart disease (CHD). The GG genotype of rs1801157 is an independent risk factor for CHD in the Chinese population.
Area of Science:
- Genetics
- Cardiovascular Disease
- Molecular Biology
Background:
- Coronary heart disease (CHD) is a leading global cause of mortality.
- Genetic predisposition is a significant non-modifiable risk factor for CHD.
- The stromal cell-derived factor 1 (SDF-1) gene plays a role in cardiovascular health.
Purpose of the Study:
- To investigate the association between a specific single nucleotide polymorphism (SNP) in the SDF-1 gene (rs1801157) and the risk of CHD.
- To identify genetic and clinical risk factors for CHD in a Chinese population.
Main Methods:
- Recruited 84 Chinese patients with CHD and 253 healthy controls.
- Genotyped the SDF-1 rs1801157 polymorphism.
- Utilized multivariate logistic regression analysis to evaluate associations with CHD.
Main Results:
- The GG genotype of SDF-1 rs1801157 was significantly more frequent in the CHD group (59.5%) compared to controls (49.8%) (p=0.036).
- The GG genotype was identified as an independent risk factor for CHD (OR=2.31, 95% CI=1.21-5.23).
- Male sex, advanced age, hypertension, and elevated LDL-C, low HDL-C, and high TG levels were also independent risk factors.
Conclusions:
- The GG genotype of the SDF-1 rs1801157 polymorphism is associated with an increased risk of coronary heart disease in the studied Chinese population.
- This genetic variant, along with established clinical factors, contributes to CHD development.
- Further research may elucidate the functional mechanisms linking SDF-1 variants to CHD pathogenesis.
Abstract:
Coronary heart disease (CHD) is highly prevalent globally and a major cause of mortality. Genetic predisposition is a non-modifiable risk factor associated with CHD. Eighty-four Chinese patients with CHD and 253 healthy Chinese controls without CHD were recruited. Major clinical data were collected, and a single nucleotide polymorphism (SNP) in the stromal cell-derived factor 1 (SDF-1) gene at position 801 (G to A, rs1801157) in the 3'-untranslated region was identified. The correlation between rs1801157 genotypes and CHD was evaluated by a multivariate logistic regression analysis. The allele frequency in the CHD and control groups was in Hardy-Weinberg equilibrium (HWE) (p>0.05). The frequency of the GG genotype in the CHD group (59.5%) was significantly higher than that in the control group (49.8%) (p=0.036). A number of variables, including male sex, age, presence of hypertension, and the levels of low-density lipoprotein cholesterol (LDL-C), high-density lipoprotein cholesterol (HDL-C), triglycerides (TG), uric acid, and total bilirubin, were associated with CHD in a primary univariate analysis. In a multivariable logistic regression analysis, the GG genotype (GG:AA, odds ratio (OR)=2.31, 95% confidence interval (CI)=1.21-5.23), male sex, advanced age (≥60 years), presence of hypertension, LDL-C level≥3.33 mg/dL, HDL-C level<1.03 mg/dL, and TG level≥1.7 mg/dL were independent risk factors for CHD.
Related Concept Videos
Single Nucleotide Polymorphisms-SNPs
Pharmacogenomics: Identification of New Drug Targets
Genome-wide Association Studies-GWAS
GWAS does not require the identification of the target gene involved in...
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase
Pharmacogenetics of Drug Transporters: P-Glycoprotein and Solute Carrier Transporters

