Department of Clinical Pathology, Faculty of Medicine, Mansoura University, Mansoura, Egypt.
Department of Cardiology, Faculty of Medicine, Mansoura University, Mansoura, Egypt.
Mol Biol Rep. 2024 Jun 14;51(1):752. doi: 10.1007/s11033-024-09607-1.
Many studies have focused on the significance of lipid regulatory genes in the pathophysiology of Coronary artery disease (CAD). ApoB XbaI (rs693) and EcoRI (rs1042031) single nucleoid polymorphisms (SNPs) were investigated to detect whether they are risk factors for CAD. Till now, this association remains uncertain. SMARCA4 (rs1122608) SNP has directly related to dyslipidemia. Loss of function mutations (LOF) in PCSK9 result in a reduction in LDL cholesterol and are associated with protection from the development of CAD.
This study was conducted on 54 CAD patients who were admitted at Internal Medicine Specialized Hospital (Cardiology Department) and 47 healthy controls. Peripheral blood samples were taken from both groups. DNA was extracted from EDTA-blood samples, then PCR- RFLP for ApoB XbaI (rs693) and EcoRI (rs1042031), SMARCA4 (rs1122608) and PCSK9 (rs505151) SNPs was done.
No statistically significant difference was found between patients and controls as regard EcoRI SNP. XbaI (rs693) X + X + genotype was significantly higher in control group (P = 0.0355). SMARCA4 (TT, GT + TT) genotypes, and T allele (P < 0.001); PCSK9 AG genotype and G allele (P = 0.027 and 0.032 respectively) were more frequent in CAD patients than controls.
SMARCA4 (rs1122608) and PCSK9 (rs505151) SNPs are significantly accompanying with the risk of CAD development in the Egyptian population. X + X + genotype appeared to have a protective effect against CAD. However, no observed association between EcoRI (rs1042031) and the risk of CAD development was found.
许多研究都集中在脂质调节基因在冠心病（CAD）的病理生理学中的意义上。研究了载脂蛋白 B XbaI(rs693)和 EcoRI(rs1042031)单核苷酸多态性(SNPs)，以检测它们是否是 CAD 的危险因素。到目前为止，这种相关性仍然不确定。SMARCA4(rs1122608)SNP 与血脂异常直接相关。PCSK9 的功能丧失突变(LOF)导致 LDL 胆固醇降低，并与 CAD 发展的保护有关。
本研究纳入了 54 名在内科专科医院（心内科）就诊的 CAD 患者和 47 名健康对照者。两组均采集外周血样。从 EDTA 血样中提取 DNA，然后进行 PCR-RFLP 检测 ApoB XbaI(rs693)和 EcoRI(rs1042031)、SMARCA4(rs1122608)和 PCSK9(rs505151)SNP。
患者和对照组 EcoRI SNP 无统计学差异。对照组 XbaI(rs693)X+X+基因型显著升高(P=0.0355)。SMARCA4(TT、GT+TT)基因型和 T 等位基因(P<0.001)；PCSK9 AG 基因型和 G 等位基因(P=0.027 和 0.032)在 CAD 患者中比对照组更常见。
SMARCA4(rs1122608)和 PCSK9(rs505151)SNP 与埃及人群 CAD 发病风险显著相关。X+X+基因型似乎对 CAD 有保护作用。然而，未观察到 EcoRI(rs1042031)与 CAD 发病风险之间存在相关性。
