Abstract：
BACKGROUND: 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.
METHODS: 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.
RESULTS: 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.
CONCLUSIONS: 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.
METHODS: 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.
RESULTS: 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.
CONCLUSIONS: 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.
摘要：
背景：许多研究集中在脂质调节基因在冠状动脉疾病（CAD）病理生理学中的意义。研究了ApoBXbaI（rs693）和EcoRI（rs1042031）单核多态性（SNP），以检测它们是否是CAD的危险因素。到现在为止,这种联系仍然不确定。SMARCA4(rs1122608)SNP与血脂异常直接相干。PCSK9中的功能缺失突变（LOF）导致LDL胆固醇降低，并与防止CAD发展有关。
方法：本研究对内科专科医院（心内科）收治的54名冠心病患者和47名健康对照进行。两组均采集外周血。从EDTA血液样本中提取DNA,然后是ApoBXbaI(rs693)和EcoRI(rs1042031)的PCR-RFLP，进行SMARCA4(rs1122608)和PCSK9(rs505151)SNP。
结果：在EcoRISNP方面，患者和对照组之间没有发现统计学上的显著差异。XbaI(rs693)X+X+基因型明显高于对照组(P=0.0355)。SMARCA4(TT,GT+TT)基因型，和T等位基因（P<0.001）；PCSK9AG基因型和G等位基因（分别为P=0.027和0.032）在CAD患者中的频率高于对照组。
结论：SMARCA4(rs1122608)和PCSK9(rs505151)SNP在埃及人群中显著伴随CAD发展的风险。X+X+基因型似乎对CAD具有保护作用。然而,未发现EcoRI(rs1042031)与CAD发展风险之间存在显著关联.
方法：本研究对内科专科医院（心内科）收治的54名冠心病患者和47名健康对照进行。两组均采集外周血。从EDTA血液样本中提取DNA,然后是ApoBXbaI(rs693)和EcoRI(rs1042031)的PCR-RFLP，进行SMARCA4(rs1122608)和PCSK9(rs505151)SNP。
结果：在EcoRISNP方面，患者和对照组之间没有发现统计学上的显著差异。XbaI(rs693)X+X+基因型明显高于对照组(P=0.0355)。SMARCA4(TT,GT+TT)基因型，和T等位基因（P<0.001）；PCSK9AG基因型和G等位基因（分别为P=0.027和0.032）在CAD患者中的频率高于对照组。
结论：SMARCA4(rs1122608)和PCSK9(rs505151)SNP在埃及人群中显著伴随CAD发展的风险。X+X+基因型似乎对CAD具有保护作用。然而,未发现EcoRI(rs1042031)与CAD发展风险之间存在显著关联.
