Published online Sep 26, 2025. doi: 10.4330/wjc.v17.i9.110278
Revised: June 25, 2025
Accepted: August 11, 2025
Published online: September 26, 2025
Processing time: 99 Days and 5 Hours
Coronary heart disease (CHD) is a prominent cause of mortality and disability worldwide. Like most complex diseases, the risk of CHD in individuals is regulated by the interaction between genetic factors and lifestyle. APOE and SLCO1B1 genetic polymorphisms and LPA KIV-2 copy number variation may influence the development and progression of CHD. Clarifying gene polymor
To investigate the influence of APOE and SLCO1B1 gene polymorphisms, as well as LPA KIV-2 copy number variation on CHD in the Teochew population.
A total of 324 patients with CHD and 143 control participants were involved in this study. Single nucleotide polymorphisms rs429358 and rs7412 in the APOE gene, and rs2306283 and rs4149056 in the SLCO1B1 gene were analyzed via high-resolution melting curve analysis. Additionally, PCR was performed to detect KIV-2 copy number variations. Clinical risk factors and potential effects on CHD patients were subsequently assessed.
In the CHD group, the frequencies of APOE allele ε2, ε3, ε4 were 8.02%, 82.97%, and 9.10%, respectively. Compared to the control groups (13.29%, 79.37%, and 7.34%, respectively), the ε2 allele frequency showed a significant difference (8.02% vs 13.29%, P = 0.012). SLCO1B1 allele frequencies in the CHD group were not significantly different from those in the control group (*1a: 26.69% vs 25.52%, *1b: 61.17% vs 65.38%, *5: 0.15% vs 0.35%, *15: 11.83% vs 8.74%). The number of copies of the KIV-2 gene was significantly lower in the CHD group when compared to controls (23.35 ± 8.78 vs 27.21 ± 9.48; P < 0.01). Logistic regression analysis revealed that sex, age, hypertension, diabetes, smoking, the ε2 allele and KIV-2 copy number were factors influencing the presence of CHD.
In the Teochew population, the APOE ε2 allele and a higher KIV-2 copy number were associated with a reduced risk of CHD. In contrast, the APOE ε4 allele and SLCO1B1 gene were not associated with CHD.
Core Tip: In this study of 324 patients with coronary heart disease (CHD) and 143 control participants, we analysed polymorphisms in the APOE and SLCO1B1 genes, as well as LPA KIV-2 copy number variation in the Teochew population of southern China. We confirmed that both APOE ε2 allele and higher KIV-2 copy number are associated with a reduced risk of CHD in the Teochew population, whereas neither the APOE ε4 allele nor SLCO1B1 gene showed any association.