Jia-Xin Xu, Ye Wu, Lin Zhang, Yong-Hao Wu, Chun-Lai Li, Fen Lin
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Clarifying gene polymorphisms can guide clinical precision and prevention, thereby improving treatment outcomes.</p><p><strong>Aim: </strong>To investigate the influence of <i>APOE</i> and <i>SLCO1B1</i> gene polymorphisms, as well as <i>LPA KIV-2</i> copy number variation on CHD in the Teochew population.</p><p><strong>Methods: </strong>A total of 324 patients with CHD and 143 control participants were involved in this study. Single nucleotide polymorphisms rs429358 and rs7412 in the <i>APOE</i> gene, and rs2306283 and rs4149056 in the <i>SLCO1B1</i> gene were analyzed <i>via</i> high-resolution melting curve analysis. Additionally, PCR was performed to detect <i>KIV-2</i> copy number variations. Clinical risk factors and potential effects on CHD patients were subsequently assessed.</p><p><strong>Results: </strong>In the CHD group, the frequencies of <i>APOE</i> 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% <i>vs</i> 13.29%, <i>P</i> = 0.012). <i>SLCO1B1</i> allele frequencies in the CHD group were not significantly different from those in the control group (*1a: 26.69% <i>vs</i> 25.52%, *1b: 61.17% <i>vs</i> 65.38%, *5: 0.15% <i>vs</i> 0.35%, *15: 11.83% <i>vs</i> 8.74%). The number of copies of the <i>KIV-2</i> gene was significantly lower in the CHD group when compared to controls (23.35 ± 8.78 <i>vs</i> 27.21 ± 9.48; <i>P</i> < 0.01). Logistic regression analysis revealed that sex, age, hypertension, diabetes, smoking, the ε2 allele and <i>KIV-2</i> copy number were factors influencing the presence of CHD.</p><p><strong>Conclusion: </strong>In the Teochew population, the <i>APOE</i> ε2 allele and a higher <i>KIV-2</i> copy number were associated with a reduced risk of CHD. In contrast, the <i>APOE</i> ε4 allele and <i>SLCO1B1</i> gene were not associated with CHD.</p>","PeriodicalId":23800,"journal":{"name":"World Journal of Cardiology","volume":"17 9","pages":"110278"},"PeriodicalIF":2.8000,"publicationDate":"2025-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12476606/pdf/","citationCount":"0","resultStr":"{\"title\":\"Correlation of <i>APOE</i>, <i>SLCO1B1</i> and <i>LPA KIV-2</i> gene polymorphisms with coronary heart disease in the Teochew population.\",\"authors\":\"Jia-Xin Xu, Ye Wu, Lin Zhang, Yong-Hao Wu, Chun-Lai Li, Fen Lin\",\"doi\":\"10.4330/wjc.v17.i9.110278\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>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. <i>APOE</i> and <i>SLCO1B1</i> genetic polymorphisms and <i>LPA KIV-2</i> copy number variation may influence the development and progression of CHD. Clarifying gene polymorphisms can guide clinical precision and prevention, thereby improving treatment outcomes.</p><p><strong>Aim: </strong>To investigate the influence of <i>APOE</i> and <i>SLCO1B1</i> gene polymorphisms, as well as <i>LPA KIV-2</i> copy number variation on CHD in the Teochew population.</p><p><strong>Methods: </strong>A total of 324 patients with CHD and 143 control participants were involved in this study. Single nucleotide polymorphisms rs429358 and rs7412 in the <i>APOE</i> gene, and rs2306283 and rs4149056 in the <i>SLCO1B1</i> gene were analyzed <i>via</i> high-resolution melting curve analysis. Additionally, PCR was performed to detect <i>KIV-2</i> copy number variations. Clinical risk factors and potential effects on CHD patients were subsequently assessed.</p><p><strong>Results: </strong>In the CHD group, the frequencies of <i>APOE</i> 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% <i>vs</i> 13.29%, <i>P</i> = 0.012). <i>SLCO1B1</i> allele frequencies in the CHD group were not significantly different from those in the control group (*1a: 26.69% <i>vs</i> 25.52%, *1b: 61.17% <i>vs</i> 65.38%, *5: 0.15% <i>vs</i> 0.35%, *15: 11.83% <i>vs</i> 8.74%). The number of copies of the <i>KIV-2</i> gene was significantly lower in the CHD group when compared to controls (23.35 ± 8.78 <i>vs</i> 27.21 ± 9.48; <i>P</i> < 0.01). Logistic regression analysis revealed that sex, age, hypertension, diabetes, smoking, the ε2 allele and <i>KIV-2</i> copy number were factors influencing the presence of CHD.</p><p><strong>Conclusion: </strong>In the Teochew population, the <i>APOE</i> ε2 allele and a higher <i>KIV-2</i> copy number were associated with a reduced risk of CHD. In contrast, the <i>APOE</i> ε4 allele and <i>SLCO1B1</i> gene were not associated with CHD.</p>\",\"PeriodicalId\":23800,\"journal\":{\"name\":\"World Journal of Cardiology\",\"volume\":\"17 9\",\"pages\":\"110278\"},\"PeriodicalIF\":2.8000,\"publicationDate\":\"2025-09-26\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12476606/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"World Journal of Cardiology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.4330/wjc.v17.i9.110278\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"CARDIAC & CARDIOVASCULAR SYSTEMS\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"World Journal of Cardiology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.4330/wjc.v17.i9.110278","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"CARDIAC & CARDIOVASCULAR SYSTEMS","Score":null,"Total":0}
引用次数: 0
摘要
背景：冠心病（CHD）是世界范围内导致死亡和残疾的主要原因。像大多数复杂的疾病一样，个人患冠心病的风险是由遗传因素和生活方式之间的相互作用调节的。APOE和SLCO1B1基因多态性和LPA KIV-2拷贝数变异可能影响冠心病的发生和进展。阐明基因多态性可以指导临床精准和预防，从而提高治疗效果。目的：探讨APOE和SLCO1B1基因多态性及LPA KIV-2拷贝数变异对潮州人群冠心病的影响。方法：对324例冠心病患者和143例对照组进行研究。采用高分辨率熔融曲线分析APOE基因rs429358和rs7412单核苷酸多态性，SLCO1B1基因rs2306283和rs4149056单核苷酸多态性。此外，采用PCR检测KIV-2拷贝数变异。随后评估临床危险因素及其对冠心病患者的潜在影响。结果：冠心病组APOE等位基因ε2、ε3、ε4的频率分别为8.02%、82.97%、9.10%；与对照组（分别为13.29%、79.37%和7.34%）相比，ε2等位基因频率差异显著（8.02% vs 13.29%, P = 0.012）。冠心病组SLCO1B1等位基因频率与对照组无显著差异（*1a: 26.69% vs 25.52%, *1b: 61.17% vs 65.38%, *5: 0.15% vs 0.35%, *15: 11.83% vs 8.74%）。冠心病组KIV-2基因拷贝数明显低于对照组（23.35±8.78 vs 27.21±9.48;P < 0.01）。Logistic回归分析显示，性别、年龄、高血压、糖尿病、吸烟、ε2等位基因和KIV-2拷贝数是影响冠心病发生的因素。结论：在潮州人群中，APOE ε2等位基因和较高的KIV-2拷贝数与降低冠心病风险相关。相反，APOE ε4等位基因和SLCO1B1基因与冠心病无相关性。
Correlation of APOE, SLCO1B1 and LPA KIV-2 gene polymorphisms with coronary heart disease in the Teochew population.
Background: 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 polymorphisms can guide clinical precision and prevention, thereby improving treatment outcomes.
Aim: 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.
Methods: 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.
Results: 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.
Conclusion: 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.
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