RESUMO
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. CONCLUSION: 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.
Assuntos
Doença da Artéria Coronariana , Predisposição Genética para Doença , Polimorfismo de Nucleotídeo Único , Pró-Proteína Convertase 9 , Receptores de LDL , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Alelos , Apolipoproteína B-100 , Apolipoproteínas B/genética , Estudos de Casos e Controles , Doença da Artéria Coronariana/genética , Desoxirribonuclease EcoRI/genética , Egito/epidemiologia , Frequência do Gene/genética , Estudos de Associação Genética , Genótipo , População do Norte da África , Polimorfismo de Nucleotídeo Único/genética , Pró-Proteína Convertase 9/genética , Receptores de LDL/genética , Fatores de RiscoRESUMO
BACKGROUND: Coronary artery disease (CAD) is the main cause of death in Egypt. Many LDL-R gene locus single nucleotide polymorphisms (SNP) are found to be associated with the risk of CAD. This research aimed to assess the allelic and genotypic frequencies of rs1122608 SNP and their association with the extent of vessel affection and lipid profile in a population of Egyptians.100 CAD patients and 100 healthy controls of Egyptians were included. PCR-RFLP was used to genotype rs1122608 SNPs. RESULTS: Significantly higher proportion of 'T' allele among patient (risk allele). This association is of low strength (Ï lies between 0.1 and 0.3). A participant with 'T' allele has 1.95 times higher odds to exhibit CAD versus a participant with 'G' allele. Significantly higher proportion of 'T/T' genotype among cases versus control (risk genotype). This association is of low strength (Cramer's V lies between 0.1 and 0.3). A participant with 'T/T' genotype has 4.5 times higher odds to exhibit CAD versus a participant with 'G/G'. Gensini score showed no significant association with rs1122608 genotypes (p = 0.863). CONCLUSIONS: The mutant GT and TT genotypes and minor T allele of rs1122608 were positively correlated with CAD and considered as independent risk factors for CAD.
RESUMO
Nephrotic dyslipidemia is a risk factor for the development of systemic atherosclerosis, and may aggravate glomerulosclerosis and enhance progression of glomerular disease. The greatest and most consistent reductions in LDL-cholesterol are achieved with HMG-CoA reductase inhibitors but their efficacy and safety in long-term therapy need to be evaluated. In this study, we gave fluvastatin to 21 nephrotic patients and followed then up clinically, neurophysiologically and by laboratory tests. There was an improvement in the lipogram, with reductions of triglycerides (TG) (33%) and LDL (35%) at three months. There was no clinical manifestation of myopathy and CPK was normal. Electromyographic data showed significant decreases in the amplitude and duration of motor unit action potentials in the proximal muscles with statin therapy, but these changes did not amount to classic myopathy. We conclude that fluvastatin is a safe drug for long-term use in dyslipidemic nephrotic patients. However, we suggest further studies to verify whether the early electromyography (EMG) changes observed in this study may progress or not on its longer term use.